LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
Variants (281)
- Gene summary:
- No gene (107)
- ADAMTSL1 (1)
- AIF1 (1)
- ANGEL1 (2)
- APBB2 (1)
- ASIC2 (1)
- ATXN7L3B (1)
- BABAM2 (1)
- BHLHE41 (1)
- BTBD19 (1)
- BTG3 (1)
- BTNL2 (1)
- C2 (1)
- C20orf194 (1)
- C20orf78 (1)
- C9orf3 (1)
- CADM1 (1)
- CAMTA1 (1)
- CCDC85A (1)
- CCDC88C (1)
- CDK14 (1)
- CDK6 (1)
- CDKN2B (1)
- CDKN2B-AS1 (2)
- CGNL1 (1)
- CHST11 (1)
- CLYBL (1)
- CMAHP (1)
- CSF1R (1)
- CSMD3 (1)
- CTNNA2 (2)
- CTNNA3 (1)
- CTNND2 (1)
- DCPS (1)
- DLGAP5 (1)
- DOCK2 (1)
- DOCK8 (1)
- DSG1-AS1 (1)
- DZIP3 (1)
- EBF3 (1)
- EIF4E3 (2)
- ENOX1 (2)
- EPB41L4B (1)
- EQTN (1)
- ERGIC1 (1)
- ESRRG (1)
- FAS (1)
- FGFR1 (1)
- FHIT (1)
- GATA4 (1)
- GBA3 (1)
- GPC6 (1)
- GSG1L (1)
- HS3ST3B1 (1)
- HTR1F (1)
- IL12A (1)
- ITGA1 (1)
- KCTD1 (1)
- KIF13B (1)
- KLRF1 (1)
- LARGE1 (1)
- LINC00032 (1)
- LINC01182 (1)
- LINC01234 (1)
- LINC01250 (1)
- LINC01258 (1)
- LINC02032 (1)
- LINC02045 (1)
- LINC02095 (1)
- LINC02391 (1)
- LINC02463 (1)
- LINGO2 (1)
- LMNA (1)
- LMX1B (1)
- LOC101927668 (1)
- LOC102723654 (1)
- LOC102723834 (1)
- LOC105370031 (1)
- LOC105370656 (1)
- LOC105372161 (1)
- LOC105373215 (1)
- LOC105373220 (1)
- LOC105373714 (1)
- LOC105375731 (1)
- LOC105377739 (1)
- LOC105377865 (1)
- LOC105378178 (1)
- LOC105378852 (1)
- LOC107984303 (1)
- LOC107985305 (1)
- LOC107985988 (1)
- LOC107986178 (2)
- LOC341056 (1)
- LOC387770 (1)
- LOC400655 (1)
- LRP1B (1)
- LY6G6F (1)
- LY86 (1)
- LYPLAL1 (1)
- MIR4500HG (1)
- MKL1 (1)
- MYO9B (1)
- MYT1L (1)
- NAV2 (1)
- NBEA (1)
- NFKB1 (1)
- NR2F2-AS1 (1)
- NR3C1 (1)
- NT5DC1 (1)
- OGDH (1)
- PAPD5 (1)
- PCNX2 (1)
- PGPEP1 (1)
- PHYHIP (1)
- PITPNM3 (1)
- PKNOX2 (1)
- PLEKHA7 (1)
- PLXNA4 (1)
- PPP2R2B (1)
- PREX1 (1)
- PRKN (1)
- PROM1 (1)
- PTAR1 (1)
- RAD51B (2)
- RAD51D (1)
- RARB (1)
- RNF145 (1)
- RNF219-AS1 (1)
- RYR3 (1)
- SEMA6A (1)
- SGSH (1)
- SH2D4A (1)
- SLC25A21 (1)
- SLC4A4 (1)
- SLC6A7 (1)
- SNAP25-AS1 (1)
- SOCS2 (1)
- SOD2 (1)
- SORCS1 (1)
- SORCS2 (1)
- SUMF1 (1)
- SYNE1 (1)
- SYT13 (1)
- TBL1XR1 (1)
- TBXAS1 (1)
- TENM4 (1)
- THSD7B (1)
- TMEM151B (1)
- TMEM2 (1)
- TNFRSF11A (1)
- TNFSF8 (1)
- TOMM40 (1)
- TOX (1)
- TRIM25 (1)
- TTC27 (1)
- TTC6 (1)
- TUSC3 (1)
- UBE2H (1)
- WDR72 (1)
- WRN (2)
- WWOX (1)
- XDH (1)
- XKR6 (3)
- ZBTB20 (1)
- ZWINT (1)
No gene
ADAMTSL1
Gene details
- HGNC symbol
- ADAMTSL1
- Aliases
- C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1
- Common name
- ADAMTS like 1
- Description
- This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
- OMIM
- 609198
- Ensembl
- ENSG00000178031
- UniProt/Swiss-Prot
- ATL1_HUMAN
- Entrez Gene
- 92949
- UniGene
- 741483
- HapMap
- View on HapMap
Homologs in model organisms
AIF1
Gene details
- HGNC symbol
- AIF1
- Aliases
- IBA1; IRT1; AIF-1; IRT-1
- Common name
- allograft inflammatory factor 1
- Description
- This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
- OMIM
- 601833
- Ensembl
- ENSG00000204472
- UniProt/Swiss-Prot
- AIF1_HUMAN
- Entrez Gene
- 199
- UniGene
- 76364
- HapMap
- View on HapMap
Homologs in model organisms
ANGEL1
Gene details
- HGNC symbol
- ANGEL1
- Aliases
- Ccr4e; KIAA0759
- Common name
- angel homolog 1
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000013523
- UniProt/Swiss-Prot
- A0A024R6B2_HUMAN
- Entrez Gene
- 23357
- UniGene
- 497448
- HapMap
- View on HapMap
Homologs in model organisms
APBB2
Gene details
- HGNC symbol
- APBB2
- Aliases
- FE65L; FE65L1
- Common name
- amyloid beta precursor protein binding family B member 2
- Description
- The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
- OMIM
- 602710
- Ensembl
- ENSG00000163697
- UniProt/Swiss-Prot
- APBB2_HUMAN
- Entrez Gene
- 323
- UniGene
- 479602
- HapMap
- View on HapMap
Homologs in model organisms
ASIC2
Gene details
- HGNC symbol
- ASIC2
- Aliases
- ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1
- Common name
- acid sensing ion channel subunit 2
- Description
- This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
- Other longevity studies of this gene
- 3
- OMIM
- 601784
- Ensembl
- ENSG00000108684
- UniProt/Swiss-Prot
- ASIC2_HUMAN
- Entrez Gene
- 40
- UniGene
- 368417
- HapMap
- View on HapMap
Homologs in model organisms
ATXN7L3B
Gene details
- HGNC symbol
- ATXN7L3B
- Aliases
- lnc-SCA7
- Common name
- ataxin 7 like 3B
- Description
- OMIM
- 615579
- Ensembl
- ENSG00000253719
- UniProt/Swiss-Prot
- A7L3B_HUMAN
- Entrez Gene
- 552889
- UniGene
- 744849
- HapMap
- View on HapMap
Homologs in model organisms
BABAM2
Gene details
- HGNC symbol
- BABAM2
- Aliases
- BRE; BRCC4; BRCC45
- Common name
- BRISC and BRCA1 A complex member 2
- Description
- This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
- OMIM
- 610497
- Ensembl
- ENSG00000158019
- UniProt/Swiss-Prot
- BRE_HUMAN
- Entrez Gene
- 9577
- UniGene
- 258314
- HapMap
- View on HapMap
Homologs in model organisms
BHLHE41
Gene details
- HGNC symbol
- BHLHE41
- Aliases
- DEC2; hDEC2; BHLHB3; SHARP1
- Common name
- basic helix-loop-helix family member e41
- Description
- This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
- OMIM
- 606200
- Ensembl
- ENSG00000123095
- UniProt/Swiss-Prot
- A0A024RAV8_HUMAN
- Entrez Gene
- 79365
- UniGene
- 177841
- HapMap
- View on HapMap
Homologs in model organisms
BTBD19
Gene details
- HGNC symbol
- BTBD19
- Aliases
- Common name
- BTB domain containing 19
- Description
- OMIM
- Ensembl
- ENSG00000222009
- UniProt/Swiss-Prot
- BTBDJ_HUMAN
- Entrez Gene
- 149478
- UniGene
- 632400
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- bath-35
- Drosophila melanogaster
- CG7102
- Rattus norvegicus
- LOC100361234
BTG3
Gene details
- HGNC symbol
- BTG3
- Aliases
- ANA; TOB5; TOFA; APRO4; TOB55; ANA/BTG3
- Common name
- BTG anti-proliferation factor 3
- Description
- The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
- OMIM
- 605674
- Ensembl
- ENSG00000154640
- UniProt/Swiss-Prot
- BTG3_HUMAN
- Entrez Gene
- 10950
- UniGene
- 473420
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as BTG3
BTNL2
Gene details
- HGNC symbol
- BTNL2
- Aliases
- SS2; BTN7; BTL-II; HSBLMHC1
- Common name
- butyrophilin like 2
- Description
- OMIM
- 606000
- Ensembl
- ENSG00000204290
- UniProt/Swiss-Prot
- A0PJV4_HUMAN
- Entrez Gene
- 56244
- UniGene
- 534471
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100332077
- Mus musculus
- Btnl2
- Rattus norvegicus
- Btnl2
C2
Gene details
- HGNC symbol
- C2
- Aliases
- CO2; ARMD14
- Common name
- complement C2
- Description
- Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
- OMIM
- 613927
- Ensembl
- ENSG00000166278
- UniProt/Swiss-Prot
- A0A0G2JL69_HUMAN
- Entrez Gene
- 717
- UniGene
- 408903
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- C2
C20orf194
Gene details
- HGNC symbol
- C20orf194
- Aliases
- Common name
- chromosome 20 open reading frame 194
- Description
- This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
- OMIM
- 614146
- Ensembl
- ENSG00000088854
- UniProt/Swiss-Prot
- CT194_HUMAN
- Entrez Gene
- 25943
- UniGene
- 516853
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-194c3.5
- Mus musculus
- uncharacterized_Q7TT
- Rattus norvegicus
- RGD1565616
C20orf78
Gene details
- HGNC symbol
- C20orf78
- Aliases
- dJ1068E13.1
- Common name
- chromosome 20 open reading frame 78
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- CT078_HUMAN
- Entrez Gene
- 100128496
- UniGene
- 664484
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
C9orf3
Gene details
- HGNC symbol
- C9orf3
- Aliases
- APO; AP-O; AOPEP; ONPEP; C90RF3
- Common name
- chromosome 9 open reading frame 3
- Description
- This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
- OMIM
- Ensembl
- ENSG00000148120
- UniProt/Swiss-Prot
- AMPO_HUMAN
- Entrez Gene
- 84909
- UniGene
- 434253
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- zgc:162939
- Mus musculus
- Aopep
- Rattus norvegicus
- Aopep
CADM1
Gene details
- HGNC symbol
- CADM1
- Aliases
- BL2; ST17; IGSF4; NECL2; RA175; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1
- Common name
- cell adhesion molecule 1
- Description
- OMIM
- 605686
- Ensembl
- ENSG00000182985
- UniProt/Swiss-Prot
- A0A4Z1_HUMAN
- Entrez Gene
- 23705
- UniGene
- 370510
- HapMap
- View on HapMap
Homologs in model organisms
CAMTA1
Gene details
- HGNC symbol
- CAMTA1
- Aliases
- CANPMR
- Common name
- calmodulin binding transcription activator 1
- Description
- The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
- OMIM
- 611501
- Ensembl
- ENSG00000171735
- UniProt/Swiss-Prot
- CMTA1_HUMAN
- Entrez Gene
- 23261
- UniGene
- 397705
- HapMap
- View on HapMap
Homologs in model organisms
CCDC85A
Gene details
- HGNC symbol
- CCDC85A
- Aliases
- Common name
- coiled-coil domain containing 85A
- Description
- OMIM
- Ensembl
- ENSG00000055813
- UniProt/Swiss-Prot
- CC85A_HUMAN
- Entrez Gene
- 114800
- UniGene
- 117136
- HapMap
- View on HapMap
Homologs in model organisms
CCDC88C
Gene details
- HGNC symbol
- CCDC88C
- Aliases
- DAPLE; HKRP2; SCA40; KIAA1509
- Common name
- coiled-coil domain containing 88C
- Description
- This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
- OMIM
- 611204
- Ensembl
- ENSG00000015133
- UniProt/Swiss-Prot
- B4DZB8_HUMAN
- Entrez Gene
- 440193
- UniGene
- 525536
- HapMap
- View on HapMap
Homologs in model organisms
CDK14
Gene details
- HGNC symbol
- CDK14
- Aliases
- PFTK1; PFTAIRE1
- Common name
- cyclin dependent kinase 14
- Description
- PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]
- OMIM
- 610679
- Ensembl
- ENSG00000058091
- UniProt/Swiss-Prot
- B4DK59_HUMAN
- Entrez Gene
- 5218
- UniGene
- 258576
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- zgc:172096
- Drosophila melanogaster
- Eip63E
- Mus musculus
- Cdk14
- Rattus norvegicus
- Cdk14
CDK6
Gene details
- HGNC symbol
- CDK6
- Aliases
- MCPH12; PLSTIRE
- Common name
- cyclin dependent kinase 6
- Description
- The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
- OMIM
- 603368
- Ensembl
- ENSG00000105810
- UniProt/Swiss-Prot
- CDK6_HUMAN
- Entrez Gene
- 1021
- UniGene
- 119882
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as CDK6
CDKN2B
Gene details
- HGNC symbol
- CDKN2B
- Aliases
- P15; MTS2; TP15; CDK4I; INK4B; p15INK4b
- Common name
- cyclin dependent kinase inhibitor 2B
- Description
- This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
- OMIM
- 600431
- Ensembl
- ENSG00000147883
- UniProt/Swiss-Prot
- CDN2B_HUMAN
- Entrez Gene
- 1030
- UniGene
- 72901
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100329528
- Mus musculus
- Cdkn2b
- Rattus norvegicus
- Cdkn2b
In other databases
CDKN2B-AS1
Gene details
- HGNC symbol
- CDKN2B-AS1
- Aliases
- ANRIL; p15AS; PCAT12; CDKN2BAS; CDKN2B-AS; NCRNA00089
- Common name
- CDKN2B antisense RNA 1
- Description
- This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
- Other longevity studies of this gene
- 2
- OMIM
- 613149
- Ensembl
- ENSG00000240498
- UniProt/Swiss-Prot
- Entrez Gene
- 100048912
- UniGene
- 493614
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CGNL1
Gene details
- HGNC symbol
- CGNL1
- Aliases
- JACOP; PCING
- Common name
- cingulin like 1
- Description
- This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]
- OMIM
- 607856
- Ensembl
- ENSG00000128849
- UniProt/Swiss-Prot
- CGNL1_HUMAN
- Entrez Gene
- 84952
- UniGene
- 148989
- HapMap
- View on HapMap
Homologs in model organisms
CHST11
Gene details
- HGNC symbol
- CHST11
- Aliases
- C4ST; C4ST1; C4ST-1; HSA269537
- Common name
- carbohydrate sulfotransferase 11
- Description
- The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
- OMIM
- 610128
- Ensembl
- ENSG00000171310
- UniProt/Swiss-Prot
- A0A024RBL0_HUMAN
- Entrez Gene
- 50515
- UniGene
- 17569
- HapMap
- View on HapMap
Homologs in model organisms
CLYBL
Gene details
- HGNC symbol
- CLYBL
- Aliases
- CLB
- Common name
- citrate lyase beta like
- Description
- OMIM
- 609686
- Ensembl
- ENSG00000125246
- UniProt/Swiss-Prot
- CLYBL_HUMAN
- Entrez Gene
- 171425
- UniGene
- 655642
- HapMap
- View on HapMap
Homologs in model organisms
CMAHP
Gene details
- HGNC symbol
- CMAHP
- Aliases
- CMAH; CSAH
- Common name
- cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
- Description
- Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]
- OMIM
- 603209
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 8418
- UniGene
- 484918
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CSF1R
Gene details
- HGNC symbol
- CSF1R
- Aliases
- FMS; CSFR; FIM2; HDLS; C-FMS; CD115; CSF-1R; M-CSF-R
- Common name
- colony stimulating factor 1 receptor
- Description
- The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
- OMIM
- 164770
- Ensembl
- ENSG00000182578
- UniProt/Swiss-Prot
- CSF1R_HUMAN
- Entrez Gene
- 1436
- UniGene
- 586219
- HapMap
- View on HapMap
Homologs in model organisms
CSMD3
Gene details
- HGNC symbol
- CSMD3
- Aliases
- Common name
- CUB and Sushi multiple domains 3
- Description
- OMIM
- 608399
- Ensembl
- ENSG00000164796
- UniProt/Swiss-Prot
- CSMD3_HUMAN
- Entrez Gene
- 114788
- UniGene
- 91381
- HapMap
- View on HapMap
Homologs in model organisms
CTNNA2
Gene details
- HGNC symbol
- CTNNA2
- Aliases
- CAPR; CTNR; CAP-R; CT114
- Common name
- catenin alpha 2
- Description
- Other longevity studies of this gene
- 1
- OMIM
- 114025
- Ensembl
- ENSG00000066032
- UniProt/Swiss-Prot
- CTNA2_HUMAN
- Entrez Gene
- 1496
- UniGene
- 167368
- HapMap
- View on HapMap
Homologs in model organisms
CTNNA3
Gene details
- HGNC symbol
- CTNNA3
- Aliases
- VR22; ARVD13
- Common name
- catenin alpha 3
- Description
- This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
- Other longevity studies of this gene
- 1
- OMIM
- 607667
- Ensembl
- ENSG00000183230
- UniProt/Swiss-Prot
- A8K141_HUMAN
- Entrez Gene
- 29119
- UniGene
- 21375
- HapMap
- View on HapMap
Homologs in model organisms
CTNND2
Gene details
- HGNC symbol
- CTNND2
- Aliases
- GT24; NPRAP
- Common name
- catenin delta 2
- Description
- This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
- OMIM
- 604275
- Ensembl
- ENSG00000169862
- UniProt/Swiss-Prot
- B4DJU1_HUMAN
- Entrez Gene
- 1501
- UniGene
- 314543
- HapMap
- View on HapMap
Homologs in model organisms
DCPS
Gene details
- HGNC symbol
- DCPS
- Aliases
- ARS; DCS1; HSL1; HINT5; HINT-5; HSPC015
- Common name
- decapping enzyme, scavenger
- Description
- This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5′ mRNA cap structure, which appear in the 3′ → 5′ mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]
- OMIM
- 610534
- Ensembl
- ENSG00000110063
- UniProt/Swiss-Prot
- DCPS_HUMAN
- Entrez Gene
- 28960
- UniGene
- 504249
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- dcs-1
- Danio rerio
- dcps
- Drosophila melanogaster
- CG2091
- Mus musculus
- Dcps
- Rattus norvegicus
- Dcps
- Saccharomyces cerevisiae
- DCS1
- Schizosaccharomyces pombe
- nhm1
In other databases
- CellAge gene expression
- This gene is present as DCPS
DLGAP5
Gene details
- HGNC symbol
- DLGAP5
- Aliases
- DLG7; HURP
- Common name
- DLG associated protein 5
- Description
- OMIM
- Ensembl
- ENSG00000126787
- UniProt/Swiss-Prot
- DLGP5_HUMAN
- Entrez Gene
- 9787
- UniGene
- 77695
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as DLGAP5
DOCK2
Gene details
- HGNC symbol
- DOCK2
- Aliases
- IMD40
- Common name
- dedicator of cytokinesis 2
- Description
- The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. [provided by RefSeq, Oct 2016]
- OMIM
- 603122
- Ensembl
- ENSG00000134516
- UniProt/Swiss-Prot
- DOCK2_HUMAN
- Entrez Gene
- 1794
- UniGene
- 586174
- HapMap
- View on HapMap
Homologs in model organisms
DOCK8
Gene details
- HGNC symbol
- DOCK8
- Aliases
- MRD2; ZIR8; HEL-205
- Common name
- dedicator of cytokinesis 8
- Description
- This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
- OMIM
- 611432
- Ensembl
- ENSG00000107099
- UniProt/Swiss-Prot
- DOCK8_HUMAN
- Entrez Gene
- 81704
- UniGene
- 132599
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_F46H5.4
- Danio rerio
- dock8
- Drosophila melanogaster
- Zir
- Mus musculus
- Dock8
- Rattus norvegicus
- Dock8
DSG1-AS1
Gene details
- HGNC symbol
- DSG1-AS1
- Aliases
- Common name
- DSG1 antisense RNA 1
- Description
- OMIM
- Ensembl
- ENSG00000266729
- UniProt/Swiss-Prot
- Entrez Gene
- 101927718
- UniGene
- 625473
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
DZIP3
Gene details
- HGNC symbol
- DZIP3
- Aliases
- UURF2; PPP1R66; hRUL138
- Common name
- DAZ interacting zinc finger protein 3
- Description
- OMIM
- 608672
- Ensembl
- ENSG00000198919
- UniProt/Swiss-Prot
- DZIP3_HUMAN
- Entrez Gene
- 9666
- UniGene
- 409210
- HapMap
- View on HapMap
Homologs in model organisms
EBF3
Gene details
- HGNC symbol
- EBF3
- Aliases
- COE3; OE-2; EBF-3; HADDS; O/E-2
- Common name
- early B-cell factor 3
- Description
- This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
- OMIM
- 607407
- Ensembl
- ENSG00000108001
- UniProt/Swiss-Prot
- COE3_HUMAN
- Entrez Gene
- 253738
- UniGene
- 591374
- HapMap
- View on HapMap
Homologs in model organisms
EIF4E3
Gene details
- HGNC symbol
- EIF4E3
- Aliases
- eIF-4E3; eIF4E-3
- Common name
- eukaryotic translation initiation factor 4E family member 3
- Description
- EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 609896
- Ensembl
- ENSG00000163412
- UniProt/Swiss-Prot
- IF4E3_HUMAN
- Entrez Gene
- 317649
- UniGene
- 581355
- HapMap
- View on HapMap
Homologs in model organisms
ENOX1
Gene details
- HGNC symbol
- ENOX1
- Aliases
- CNOX; PIG38; cCNOX; bA64J21.1
- Common name
- ecto-NOX disulfide-thiol exchanger 1
- Description
- The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 610914
- Ensembl
- ENSG00000120658
- UniProt/Swiss-Prot
- A0A024RDT8_HUMAN
- Entrez Gene
- 55068
- UniGene
- 128258
- HapMap
- View on HapMap
Homologs in model organisms
EPB41L4B
Gene details
- HGNC symbol
- EPB41L4B
- Aliases
- CG1; EHM2
- Common name
- erythrocyte membrane protein band 4.1 like 4B
- Description
- OMIM
- 610340
- Ensembl
- ENSG00000095203
- UniProt/Swiss-Prot
- E41LB_HUMAN
- Entrez Gene
- 54566
- UniGene
- 591901
- HapMap
- View on HapMap
Homologs in model organisms
EQTN
Gene details
- HGNC symbol
- EQTN
- Aliases
- AFAF; SPACA8; C9orf11
- Common name
- equatorin
- Description
- OMIM
- Ensembl
- ENSG00000120160
- UniProt/Swiss-Prot
- EQTN_HUMAN
- Entrez Gene
- 54586
- UniGene
- 163070
- HapMap
- View on HapMap
Homologs in model organisms
ERGIC1
Gene details
- HGNC symbol
- ERGIC1
- Aliases
- NET24; ERGIC32; ERGIC-32
- Common name
- endoplasmic reticulum-golgi intermediate compartment 1
- Description
- This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
- OMIM
- Ensembl
- ENSG00000113719
- UniProt/Swiss-Prot
- ERGI1_HUMAN
- Entrez Gene
- 57222
- UniGene
- 509163
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y102A11A.6
- Danio rerio
- ergic1
- Mus musculus
- Ergic1
- Rattus norvegicus
- Ergic1
ESRRG
Gene details
- HGNC symbol
- ESRRG
- Aliases
- ERR3; NR3B3; ERRgamma
- Common name
- estrogen related receptor gamma
- Description
- This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]
- OMIM
- 602969
- Ensembl
- ENSG00000196482
- UniProt/Swiss-Prot
- B7Z5E9_HUMAN
- Entrez Gene
- 2104
- UniGene
- 444225
- HapMap
- View on HapMap
Homologs in model organisms
FAS
Gene details
- HGNC symbol
- FAS
- Aliases
- APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6
- Common name
- Fas cell surface death receptor
- Description
- The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 134637
- Ensembl
- ENSG00000026103
- UniProt/Swiss-Prot
- K9J972_HUMAN
- Entrez Gene
- 355
- UniGene
- 244139
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
FGFR1
Gene details
- HGNC symbol
- FGFR1
- Aliases
- CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1
- Common name
- fibroblast growth factor receptor 1
- Description
- The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
- OMIM
- 136350
- Ensembl
- ENSG00000077782
- UniProt/Swiss-Prot
- A0A0S2Z3Q6_HUMAN
- Entrez Gene
- 2260
- UniGene
- 264887
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
FHIT
Gene details
- HGNC symbol
- FHIT
- Aliases
- FRA3B; AP3Aase
- Common name
- fragile histidine triad
- Description
- This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
- OMIM
- 601153
- Ensembl
- ENSG00000189283
- UniProt/Swiss-Prot
- A0A024R366_HUMAN
- Entrez Gene
- 2272
- UniGene
- 655995
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
GATA4
Gene details
- HGNC symbol
- GATA4
- Aliases
- TOF; ASD2; VSD1; TACHD
- Common name
- GATA binding protein 4
- Description
- This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
- OMIM
- 600576
- Ensembl
- ENSG00000136574
- UniProt/Swiss-Prot
- B3KUF4_HUMAN
- Entrez Gene
- 2626
- UniGene
- 243987
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as GATA4
GBA3
Gene details
- HGNC symbol
- GBA3
- Aliases
- CBG; GLUC; KLRP; CBGL1
- Common name
- glucosylceramidase beta 3 (gene/pseudogene)
- Description
- The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
- OMIM
- 606619
- Ensembl
- ENSG00000249948
- UniProt/Swiss-Prot
- A8K9N1_HUMAN
- Entrez Gene
- 57733
- UniGene
- 653107
- HapMap
- View on HapMap
Homologs in model organisms
- Rattus norvegicus
- Gba3
GPC6
Gene details
- HGNC symbol
- GPC6
- Aliases
- OMIMD1
- Common name
- glypican 6
- Description
- The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
- OMIM
- 604404
- Ensembl
- ENSG00000183098
- UniProt/Swiss-Prot
- GPC6_HUMAN
- Entrez Gene
- 10082
- UniGene
- 444329
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Gpc6
GSG1L
Gene details
- HGNC symbol
- GSG1L
- Aliases
- PRO19651
- Common name
- GSG1 like
- Description
- OMIM
- 617161
- Ensembl
- ENSG00000169181
- UniProt/Swiss-Prot
- B3KY67_HUMAN
- Entrez Gene
- 146395
- UniGene
- 91910
- HapMap
- View on HapMap
Homologs in model organisms
HS3ST3B1
Gene details
- HGNC symbol
- HS3ST3B1
- Aliases
- 3OST3B1; 3-OST-3B; h3-OST-3B
- Common name
- heparan sulfate-glucosamine 3-sulfotransferase 3B1
- Description
- The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
- OMIM
- 604058
- Ensembl
- ENSG00000125430
- UniProt/Swiss-Prot
- HS3SB_HUMAN
- Entrez Gene
- 9953
- UniGene
- 48384
- HapMap
- View on HapMap
Homologs in model organisms
HTR1F
Gene details
- HGNC symbol
- HTR1F
- Aliases
- 5HT6; MR77; 5-HT1F; HTR1EL; 5-HT-1F
- Common name
- 5-hydroxytryptamine receptor 1F
- Description
- OMIM
- 182134
- Ensembl
- ENSG00000179097
- UniProt/Swiss-Prot
- 5HT1F_HUMAN
- Entrez Gene
- 3355
- UniGene
- 248136
- HapMap
- View on HapMap
Homologs in model organisms
IL12A
Gene details
- HGNC symbol
- IL12A
- Aliases
- P35; CLMF; NFSK; NKSF1; IL-12A
- Common name
- interleukin 12A
- Description
- This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 161560
- Ensembl
- ENSG00000168811
- UniProt/Swiss-Prot
- IL12A_HUMAN
- Entrez Gene
- 3592
- UniGene
- 673
- HapMap
- View on HapMap
Homologs in model organisms
ITGA1
Gene details
- HGNC symbol
- ITGA1
- Aliases
- VLA1; CD49a
- Common name
- integrin subunit alpha 1
- Description
- This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
- OMIM
- 192968
- Ensembl
- ENSG00000213949
- UniProt/Swiss-Prot
- ITA1_HUMAN
- Entrez Gene
- 3672
- UniGene
- 644352
- HapMap
- View on HapMap
Homologs in model organisms
KCTD1
Gene details
- HGNC symbol
- KCTD1
- Aliases
- SENS; C18orf5
- Common name
- potassium channel tetramerization domain containing 1
- Description
- OMIM
- 613420
- Ensembl
- ENSG00000134504
- UniProt/Swiss-Prot
- A0A024RC45_HUMAN
- Entrez Gene
- 284252
- UniGene
- 526630
- HapMap
- View on HapMap
Homologs in model organisms
KIF13B
Gene details
- HGNC symbol
- KIF13B
- Aliases
- GAKIN
- Common name
- kinesin family member 13B
- Description
- OMIM
- 607350
- Ensembl
- ENSG00000197892
- UniProt/Swiss-Prot
- KI13B_HUMAN
- Entrez Gene
- 23303
- UniGene
- 444767
- HapMap
- View on HapMap
Homologs in model organisms
KLRF1
Gene details
- HGNC symbol
- KLRF1
- Aliases
- NKp80; CLEC5C
- Common name
- killer cell lectin like receptor F1
- Description
- KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
- OMIM
- 605029
- Ensembl
- ENSG00000150045
- UniProt/Swiss-Prot
- A0A0C4DFN7_HUMAN
- Entrez Gene
- 51348
- UniGene
- 183125
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LARGE1
Gene details
- HGNC symbol
- LARGE1
- Aliases
- LARGE; MDC1D; MDDGA6; MDDGB6
- Common name
- LARGE xylosyl- and glucuronyltransferase 1
- Description
- This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
- OMIM
- 603590
- Ensembl
- ENSG00000133424
- UniProt/Swiss-Prot
- LARG1_HUMAN
- Entrez Gene
- 9215
- UniGene
- 474667
- HapMap
- View on HapMap
Homologs in model organisms
LINC00032
Gene details
- HGNC symbol
- LINC00032
- Aliases
- C9orf14; NCRNA00032
- Common name
- long intergenic non-protein coding RNA 32
- Description
- OMIM
- Ensembl
- ENSG00000283945
- UniProt/Swiss-Prot
- Entrez Gene
- 158035
- UniGene
- 201554
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC01182
Gene details
- HGNC symbol
- LINC01182
- Aliases
- Common name
- long intergenic non-protein coding RNA 1182
- Description
- OMIM
- Ensembl
- ENSG00000250634
- UniProt/Swiss-Prot
- Entrez Gene
- 101929071
- UniGene
- 543714
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC01234
Gene details
- HGNC symbol
- LINC01234
- Aliases
- LCAL84; onco-lncRNA-32
- Common name
- long intergenic non-protein coding RNA 1234
- Description
- OMIM
- Ensembl
- ENSG00000249550
- UniProt/Swiss-Prot
- Entrez Gene
- 100506465
- UniGene
- 211461
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC01250
Gene details
- HGNC symbol
- LINC01250
- Aliases
- Common name
- long intergenic non-protein coding RNA 1250
- Description
- OMIM
- Ensembl
- ENSG00000234423
- UniProt/Swiss-Prot
- Entrez Gene
- 101927554
- UniGene
- 638446
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC01258
Gene details
- HGNC symbol
- LINC01258
- Aliases
- Common name
- long intergenic non-protein coding RNA 1258
- Description
- OMIM
- Ensembl
- ENSG00000249534
- UniProt/Swiss-Prot
- Entrez Gene
- 101928776
- UniGene
- 586147
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC02032
Gene details
- HGNC symbol
- LINC02032
- Aliases
- Common name
- long intergenic non-protein coding RNA 2032
- Description
- OMIM
- Ensembl
- ENSG00000241131
- UniProt/Swiss-Prot
- Entrez Gene
- 100507461
- UniGene
- 112623
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC02045
Gene details
- HGNC symbol
- LINC02045
- Aliases
- Common name
- long intergenic non-protein coding RNA 2045
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105374146
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC02095
Gene details
- HGNC symbol
- LINC02095
- Aliases
- Common name
- long intergenic non-protein coding RNA 2095
- Description
- OMIM
- Ensembl
- ENSG00000228639
- UniProt/Swiss-Prot
- Entrez Gene
- 102723505
- UniGene
- 547482
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC02391
Gene details
- HGNC symbol
- LINC02391
- Aliases
- Common name
- long intergenic non-protein coding RNA 2391
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 101930023
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINC02463
Gene details
- HGNC symbol
- LINC02463
- Aliases
- Common name
- long intergenic non-protein coding RNA 2463
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105370004
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LINGO2
Gene details
- HGNC symbol
- LINGO2
- Aliases
- LERN3; LRRN6C
- Common name
- leucine rich repeat and Ig domain containing 2
- Description
- OMIM
- 609793
- Ensembl
- ENSG00000174482
- UniProt/Swiss-Prot
- LIGO2_HUMAN
- Entrez Gene
- 158038
- UniGene
- 444665
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as LINGO2
LMNA
Gene details
- HGNC symbol
- LMNA
- Aliases
- FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B
- Common name
- lamin A/C
- Description
- The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
- Other longevity studies of this gene
- 12
- OMIM
- 150330
- Ensembl
- ENSG00000160789
- UniProt/Swiss-Prot
- LMNA_HUMAN
- Entrez Gene
- 4000
- UniGene
- 594444
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- lmn-1
- Danio rerio
- lmna
- Drosophila melanogaster
- LamC
- Mus musculus
- Lmna
- Rattus norvegicus
- Lmna
In other databases
LMX1B
Gene details
- HGNC symbol
- LMX1B
- Aliases
- NPS1; LMX1.2
- Common name
- LIM homeobox transcription factor 1 beta
- Description
- This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
- OMIM
- 602575
- Ensembl
- ENSG00000136944
- UniProt/Swiss-Prot
- B7ZLH2_HUMAN
- Entrez Gene
- 4010
- UniGene
- 129133
- HapMap
- View on HapMap
Homologs in model organisms
LOC101927668
Gene details
- HGNC symbol
- LOC101927668
- Aliases
- Common name
- uncharacterized LOC101927668
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 101927668
- UniGene
- 715900
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC102723654
Gene details
- HGNC symbol
- LOC102723654
- Aliases
- Common name
- uncharacterized LOC102723654
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 102723654
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC102723834
Gene details
- HGNC symbol
- LOC102723834
- Aliases
- Common name
- uncharacterized LOC102723834
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 102723834
- UniGene
- 634554
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105370031
Gene details
- HGNC symbol
- LOC105370031
- Aliases
- Common name
- uncharacterized LOC105370031
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105370031
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105370656
Gene details
- HGNC symbol
- LOC105370656
- Aliases
- Common name
- uncharacterized LOC105370656
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105370656
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105372161
Gene details
- HGNC symbol
- LOC105372161
- Aliases
- Common name
- uncharacterized LOC105372161
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105372161
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105373215
Gene details
- HGNC symbol
- LOC105373215
- Aliases
- Common name
- uncharacterized LOC105373215
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105373215
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105373220
Gene details
- HGNC symbol
- LOC105373220
- Aliases
- Common name
- uncharacterized LOC105373220
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105373220
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105373714
Gene details
- HGNC symbol
- LOC105373714
- Aliases
- Common name
- uncharacterized LOC105373714
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105373714
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105375731
Gene details
- HGNC symbol
- LOC105375731
- Aliases
- Common name
- uncharacterized LOC105375731
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105375731
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105377739
Gene details
- HGNC symbol
- LOC105377739
- Aliases
- Common name
- uncharacterized LOC105377739
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105377739
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105377865
Gene details
- HGNC symbol
- LOC105377865
- Aliases
- Common name
- uncharacterized LOC105377865
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105377865
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105378178
Gene details
- HGNC symbol
- LOC105378178
- Aliases
- Common name
- uncharacterized LOC105378178
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105378178
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC105378852
Gene details
- HGNC symbol
- LOC105378852
- Aliases
- Common name
- uncharacterized LOC105378852
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105378852
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107984303
Gene details
- HGNC symbol
- LOC107984303
- Aliases
- Common name
- uncharacterized LOC107984303
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107984303
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107985305
Gene details
- HGNC symbol
- LOC107985305
- Aliases
- Common name
- uncharacterized LOC107985305
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107985305
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107985988
Gene details
- HGNC symbol
- LOC107985988
- Aliases
- Common name
- uncharacterized LOC107985988
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107985988
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107986178
Gene details
- HGNC symbol
- LOC107986178
- Aliases
- Common name
- uncharacterized LOC107986178
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107986178
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC341056
Gene details
- HGNC symbol
- LOC341056
- Aliases
- Common name
- SUMO1 activating enzyme subunit 1 pseudogene
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 341056
- UniGene
- 620309
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC387770
Gene details
- HGNC symbol
- LOC387770
- Aliases
- Common name
- tripartite motif containing 49D1 pseudogene
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 387770
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC400655
Gene details
- HGNC symbol
- LOC400655
- Aliases
- Common name
- uncharacterized LOC400655
- Description
- OMIM
- Ensembl
- ENSG00000263711
- UniProt/Swiss-Prot
- Entrez Gene
- 400655
- UniGene
- 579378
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LRP1B
Gene details
- HGNC symbol
- LRP1B
- Aliases
- LRP-1B; LRPDIT; LRP-DIT
- Common name
- LDL receptor related protein 1B
- Description
- This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 608766
- Ensembl
- ENSG00000168702
- UniProt/Swiss-Prot
- LRP1B_HUMAN
- Entrez Gene
- 53353
- UniGene
- 656461
- HapMap
- View on HapMap
Homologs in model organisms
LY6G6F
Gene details
- HGNC symbol
- LY6G6F
- Aliases
- G6f; NG32; LY6G6; LY6G6D; C6orf21
- Common name
- lymphocyte antigen 6 family member G6F
- Description
- The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]
- OMIM
- 611404
- Ensembl
- ENSG00000204424
- UniProt/Swiss-Prot
- A0A1L6Z9Z3_HUMAN
- Entrez Gene
- 259215
- UniGene
- 591794
- HapMap
- View on HapMap
Homologs in model organisms
LY86
Gene details
- HGNC symbol
- LY86
- Aliases
- MD1; MD-1; MMD-1; dJ80N2.1
- Common name
- lymphocyte antigen 86
- Description
- OMIM
- 605241
- Ensembl
- ENSG00000112799
- UniProt/Swiss-Prot
- LY86_HUMAN
- Entrez Gene
- 9450
- UniGene
- 653138
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- uncharacterized_E7F6
- Mus musculus
- Ly86
- Rattus norvegicus
- Ly86
LYPLAL1
Gene details
- HGNC symbol
- LYPLAL1
- Aliases
- Q96AV0
- Common name
- lysophospholipase like 1
- Description
- OMIM
- 616548
- Ensembl
- ENSG00000143353
- UniProt/Swiss-Prot
- LYPL1_HUMAN
- Entrez Gene
- 127018
- UniGene
- 657617
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- zgc:110848
- Drosophila melanogaster
- CG6567
- Mus musculus
- Lyplal1
- Rattus norvegicus
- Lyplal1
MIR4500HG
Gene details
- HGNC symbol
- MIR4500HG
- Aliases
- Common name
- MIR4500 host gene
- Description
- OMIM
- Ensembl
- ENSG00000228824
- UniProt/Swiss-Prot
- Entrez Gene
- 642345
- UniGene
- 508337
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
MKL1
Gene details
- HGNC symbol
- MKL1
- Aliases
- MAL; BSAC; MRTF-A
- Common name
- megakaryoblastic leukemia (translocation) 1
- Description
- The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
- OMIM
- 606078
- Ensembl
- ENSG00000196588
- UniProt/Swiss-Prot
- A4FUJ8_HUMAN
- Entrez Gene
- 57591
- UniGene
- 654688
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as MRTFA
MYO9B
Gene details
- HGNC symbol
- MYO9B
- Aliases
- MYR5; CELIAC4
- Common name
- myosin IXB
- Description
- This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
- OMIM
- 602129
- Ensembl
- ENSG00000099331
- UniProt/Swiss-Prot
- B0I1T6_HUMAN
- Entrez Gene
- 4650
- UniGene
- 123198
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- hum-7
- Danio rerio
- LOC100332329
- Mus musculus
- Myo9b
- Rattus norvegicus
- Myo9b
MYT1L
Gene details
- HGNC symbol
- MYT1L
- Aliases
- NZF1; MRD39; myT1-L; ZC2H2C2; ZC2HC4B
- Common name
- myelin transcription factor 1 like
- Description
- This gene encodes a member of the zinc finger superfamily of transcription factors. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with autosomal mental retardation-39 and autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
- OMIM
- 613084
- Ensembl
- ENSG00000186487
- UniProt/Swiss-Prot
- MYT1L_HUMAN
- Entrez Gene
- 23040
- UniGene
- 434418
- HapMap
- View on HapMap
Homologs in model organisms
NAV2
Gene details
- HGNC symbol
- NAV2
- Aliases
- HELAD1; RAINB1; POMFIL2; UNC53H2; STEERIN2
- Common name
- neuron navigator 2
- Description
- This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
- OMIM
- 607026
- Ensembl
- ENSG00000166833
- UniProt/Swiss-Prot
- A7E2D6_HUMAN
- Entrez Gene
- 89797
- UniGene
- 64341
- HapMap
- View on HapMap
Homologs in model organisms
NBEA
Gene details
- HGNC symbol
- NBEA
- Aliases
- BCL8B; LYST2
- Common name
- neurobeachin
- Description
- This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
- OMIM
- 604889
- Ensembl
- ENSG00000172915
- UniProt/Swiss-Prot
- B3KXQ8_HUMAN
- Entrez Gene
- 26960
- UniGene
- 491172
- HapMap
- View on HapMap
Homologs in model organisms
NFKB1
Gene details
- HGNC symbol
- NFKB1
- Aliases
- p50; KBF1; p105; EBP-1; CVID12; NF-kB1; NFKB-p50; NFkappaB; NF-kappaB; NFKB-p105; NF-kappa-B
- Common name
- nuclear factor kappa B subunit 1
- Description
- This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 164011
- Ensembl
- ENSG00000109320
- UniProt/Swiss-Prot
- A0A024RDJ4_HUMAN
- Entrez Gene
- 4790
- UniGene
- 618430
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
NR2F2-AS1
Gene details
- HGNC symbol
- NR2F2-AS1
- Aliases
- Common name
- NR2F2 antisense RNA 1
- Description
- OMIM
- Ensembl
- ENSG00000247809
- UniProt/Swiss-Prot
- Entrez Gene
- 644192
- UniGene
- 58690
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
NR3C1
Gene details
- HGNC symbol
- NR3C1
- Aliases
- GR; GCR; GRL; GCCR; GCRST
- Common name
- nuclear receptor subfamily 3 group C member 1
- Description
- This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
- Other longevity studies of this gene
- 4
- OMIM
- 138040
- Ensembl
- ENSG00000113580
- UniProt/Swiss-Prot
- B7Z7I2_HUMAN
- Entrez Gene
- 2908
- UniGene
- 122926
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as NR3C1
NT5DC1
Gene details
- HGNC symbol
- NT5DC1
- Aliases
- LP2642; NT5C2L1; C6orf200
- Common name
- 5'-nucleotidase domain containing 1
- Description
- While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]
- OMIM
- Ensembl
- ENSG00000178425
- UniProt/Swiss-Prot
- NT5D1_HUMAN
- Entrez Gene
- 221294
- UniGene
- 520341
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
OGDH
Gene details
- HGNC symbol
- OGDH
- Aliases
- E1k; OGDC; AKGDH
- Common name
- oxoglutarate dehydrogenase
- Description
- This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
- OMIM
- 613022
- Ensembl
- ENSG00000105953
- UniProt/Swiss-Prot
- A0A140VJQ5_HUMAN
- Entrez Gene
- 4967
- UniGene
- 488181
- HapMap
- View on HapMap
Homologs in model organisms
PAPD5
Gene details
- HGNC symbol
- PAPD5
- Aliases
- TRF4-2
- Common name
- poly(A) RNA polymerase D5, non-canonical
- Description
- OMIM
- 605540
- Ensembl
- ENSG00000121274
- UniProt/Swiss-Prot
- A0A024R6Q7_HUMAN
- Entrez Gene
- 64282
- UniGene
- 514342
- HapMap
- View on HapMap
Homologs in model organisms
PCNX2
Gene details
- HGNC symbol
- PCNX2
- Aliases
- PCNXL2
- Common name
- pecanex homolog 2 (Drosophila)
- Description
- This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]
- OMIM
- Ensembl
- ENSG00000135749
- UniProt/Swiss-Prot
- B3KNZ5_HUMAN
- Entrez Gene
- 80003
- UniGene
- 370605
- HapMap
- View on HapMap
Homologs in model organisms
PGPEP1
Gene details
- HGNC symbol
- PGPEP1
- Aliases
- PGI; PGP; Pcp; PGPI; PAP-I; PGP-I
- Common name
- pyroglutamyl-peptidase I
- Description
- The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
- OMIM
- 610694
- Ensembl
- ENSG00000130517
- UniProt/Swiss-Prot
- PGPI_HUMAN
- Entrez Gene
- 54858
- UniGene
- 131776
- HapMap
- View on HapMap
Homologs in model organisms
PHYHIP
Gene details
- HGNC symbol
- PHYHIP
- Aliases
- PAHX-AP; PAHXAP1; DYRK1AP3
- Common name
- phytanoyl-CoA 2-hydroxylase interacting protein
- Description
- OMIM
- 608511
- Ensembl
- ENSG00000168490
- UniProt/Swiss-Prot
- PHYIP_HUMAN
- Entrez Gene
- 9796
- UniGene
- 334688
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_M01B2.13
- Mus musculus
- Phyhip
- Rattus norvegicus
- Phyhip
PITPNM3
Gene details
- HGNC symbol
- PITPNM3
- Aliases
- NIR1; ACKR6; CORD5; RDGBA3
- Common name
- PITPNM family member 3
- Description
- This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
- OMIM
- 608921
- Ensembl
- ENSG00000091622
- UniProt/Swiss-Prot
- A1A5C9_HUMAN
- Entrez Gene
- 83394
- UniGene
- 183983
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- pitp-1
- Danio rerio
- BX571984.2
- Mus musculus
- Pitpnm3
- Rattus norvegicus
- Pitpnm3
PKNOX2
Gene details
- HGNC symbol
- PKNOX2
- Aliases
- PREP2
- Common name
- PBX/knotted 1 homeobox 2
- Description
- Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
- OMIM
- 613066
- Ensembl
- ENSG00000165495
- UniProt/Swiss-Prot
- B7ZAF3_HUMAN
- Entrez Gene
- 63876
- UniGene
- 278564
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- pknox2
- Mus musculus
- Pknox2
- Rattus norvegicus
- LOC100364346
PLEKHA7
Gene details
- HGNC symbol
- PLEKHA7
- Aliases
- Common name
- pleckstrin homology domain containing A7
- Description
- OMIM
- 612686
- Ensembl
- ENSG00000166689
- UniProt/Swiss-Prot
- E9PKC0_HUMAN
- Entrez Gene
- 144100
- UniGene
- 12332
- HapMap
- View on HapMap
Homologs in model organisms
PLXNA4
Gene details
- HGNC symbol
- PLXNA4
- Aliases
- PLEXA4; PLXNA4A; PLXNA4B; FAYV2820; PRO34003
- Common name
- plexin A4
- Description
- OMIM
- 604280
- Ensembl
- ENSG00000221866
- UniProt/Swiss-Prot
- A0A024R7A6_HUMAN
- Entrez Gene
- 91584
- UniGene
- 511454
- HapMap
- View on HapMap
Homologs in model organisms
PPP2R2B
Gene details
- HGNC symbol
- PPP2R2B
- Aliases
- PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA
- Common name
- protein phosphatase 2 regulatory subunit Bbeta
- Description
- The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
- OMIM
- 604325
- Ensembl
- ENSG00000156475
- UniProt/Swiss-Prot
- 2ABB_HUMAN
- Entrez Gene
- 5521
- UniGene
- 627618
- HapMap
- View on HapMap
Homologs in model organisms
PREX1
Gene details
- HGNC symbol
- PREX1
- Aliases
- P-REX1
- Common name
- phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1
- Description
- The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
- OMIM
- 606905
- Ensembl
- ENSG00000124126
- UniProt/Swiss-Prot
- PREX1_HUMAN
- Entrez Gene
- 57580
- UniGene
- 153310
- HapMap
- View on HapMap
Homologs in model organisms
PRKN
Gene details
- HGNC symbol
- PRKN
- Aliases
- PDJ; AR-JP; LPRS2; PARK2
- Common name
- parkin RBR E3 ubiquitin protein ligase
- Description
- The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 15
- OMIM
- 602544
- Ensembl
- ENSG00000185345
- UniProt/Swiss-Prot
- PRKN2_HUMAN
- Entrez Gene
- 5071
- UniGene
- 132954
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
PROM1
Gene details
- HGNC symbol
- PROM1
- Aliases
- RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061
- Common name
- prominin 1
- Description
- This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
- OMIM
- 604365
- Ensembl
- ENSG00000007062
- UniProt/Swiss-Prot
- A0A0A0N0M1_HUMAN
- Entrez Gene
- 8842
- UniGene
- 614734
- HapMap
- View on HapMap
Homologs in model organisms
PTAR1
Gene details
- HGNC symbol
- PTAR1
- Aliases
- Common name
- protein prenyltransferase alpha subunit repeat containing 1
- Description
- OMIM
- Ensembl
- ENSG00000188647
- UniProt/Swiss-Prot
- PTAR1_HUMAN
- Entrez Gene
- 375743
- UniGene
- 744192
- HapMap
- View on HapMap
Homologs in model organisms
RAD51B
Gene details
- HGNC symbol
- RAD51B
- Aliases
- REC2; R51H2; RAD51L1
- Common name
- RAD51 paralog B
- Description
- The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 602948
- Ensembl
- ENSG00000182185
- UniProt/Swiss-Prot
- A0A024R656_HUMAN
- Entrez Gene
- 5890
- UniGene
- 172587
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- rad51b
- Mus musculus
- Rad51b
- Rattus norvegicus
- LOC100912736
RAD51D
Gene details
- HGNC symbol
- RAD51D
- Aliases
- TRAD; R51H3; BROVCA4; RAD51L3
- Common name
- RAD51 paralog D
- Description
- The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]
- OMIM
- 602954
- Ensembl
- ENSG00000185379
- UniProt/Swiss-Prot
- RA51D_HUMAN
- Entrez Gene
- 5892
- UniGene
- 631757
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as RAD51D
RARB
Gene details
- HGNC symbol
- RARB
- Aliases
- HAP; RRB2; NR1B2; MCOPS12; RARbeta1
- Common name
- retinoic acid receptor beta
- Description
- This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
- OMIM
- 180220
- Ensembl
- ENSG00000077092
- UniProt/Swiss-Prot
- F1D8S6_HUMAN
- Entrez Gene
- 5915
- UniGene
- 543218
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as RARB
RNF145
Gene details
- HGNC symbol
- RNF145
- Aliases
- Common name
- ring finger protein 145
- Description
- OMIM
- Ensembl
- ENSG00000145860
- UniProt/Swiss-Prot
- A8K9Y9_HUMAN
- Entrez Gene
- 153830
- UniGene
- 349306
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y119C1B.5
- Danio rerio
- rnf145
- Mus musculus
- Rnf145
- Rattus norvegicus
- Rnf145
RNF219-AS1
Gene details
- HGNC symbol
- RNF219-AS1
- Aliases
- POU4F1-AS1
- Common name
- RNF219 antisense RNA 1
- Description
- OMIM
- Ensembl
- ENSG00000234377
- UniProt/Swiss-Prot
- Entrez Gene
- 100874222
- UniGene
- 493062
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
RYR3
Gene details
- HGNC symbol
- RYR3
- Aliases
- RYR-3
- Common name
- ryanodine receptor 3
- Description
- The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
- OMIM
- 180903
- Ensembl
- ENSG00000198838
- UniProt/Swiss-Prot
- A0A0U1RRH1_HUMAN
- Entrez Gene
- 6263
- UniGene
- 709373
- HapMap
- View on HapMap
Homologs in model organisms
SEMA6A
Gene details
- HGNC symbol
- SEMA6A
- Aliases
- VIA; SEMA; HT018; SEMAQ; SEMA6A1
- Common name
- semaphorin 6A
- Description
- The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]
- OMIM
- 605885
- Ensembl
- ENSG00000092421
- UniProt/Swiss-Prot
- A0A0A0MQU6_HUMAN
- Entrez Gene
- 57556
- UniGene
- 156967
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as SEMA6A
SGSH
Gene details
- HGNC symbol
- SGSH
- Aliases
- HSS; SFMD; MPS3A
- Common name
- N-sulfoglucosamine sulfohydrolase
- Description
- This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
- OMIM
- 605270
- Ensembl
- ENSG00000181523
- UniProt/Swiss-Prot
- SPHM_HUMAN
- Entrez Gene
- 6448
- UniGene
- 31074
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as SGSH
SH2D4A
Gene details
- HGNC symbol
- SH2D4A
- Aliases
- SH2A; PPP1R38
- Common name
- SH2 domain containing 4A
- Description
- OMIM
- 614968
- Ensembl
- ENSG00000104611
- UniProt/Swiss-Prot
- SH24A_HUMAN
- Entrez Gene
- 63898
- UniGene
- 303208
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_F13B12.6
- Danio rerio
- zgc:56186
- Mus musculus
- Sh2d4a
- Rattus norvegicus
- Sh2d4a
SLC25A21
Gene details
- HGNC symbol
- SLC25A21
- Aliases
- ODC; ODC1
- Common name
- solute carrier family 25 member 21
- Description
- SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]
- OMIM
- 607571
- Ensembl
- ENSG00000183032
- UniProt/Swiss-Prot
- ODC_HUMAN
- Entrez Gene
- 89874
- UniGene
- 730857
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_R11.1
- Danio rerio
- slc25a21
- Drosophila melanogaster
- EG:BACR19J1.2
- Mus musculus
- Slc25a21
- Rattus norvegicus
- Slc25a21
- Saccharomyces cerevisiae
- ODC1
- Schizosaccharomyces pombe
- SPAC328.09
SLC4A4
Gene details
- HGNC symbol
- SLC4A4
- Aliases
- KNBC; NBC1; NBC2; pNBC; HNBC1; hhNMC; kNBC1; SLC4A5; NBCe1-A
- Common name
- solute carrier family 4 member 4
- Description
- This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
- OMIM
- 603345
- Ensembl
- ENSG00000080493
- UniProt/Swiss-Prot
- A0A024RD97_HUMAN
- Entrez Gene
- 8671
- UniGene
- 5462
- HapMap
- View on HapMap
Homologs in model organisms
SLC6A7
Gene details
- HGNC symbol
- SLC6A7
- Aliases
- PROT
- Common name
- solute carrier family 6 member 7
- Description
- This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]
- OMIM
- 606205
- Ensembl
- ENSG00000011083
- UniProt/Swiss-Prot
- SC6A7_HUMAN
- Entrez Gene
- 6534
- UniGene
- 241597
- HapMap
- View on HapMap
Homologs in model organisms
SNAP25-AS1
Gene details
- HGNC symbol
- SNAP25-AS1
- Aliases
- Common name
- SNAP25 antisense RNA 1
- Description
- OMIM
- Ensembl
- ENSG00000227906
- UniProt/Swiss-Prot
- Entrez Gene
- 100131208
- UniGene
- 658178
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
SOCS2
Gene details
- HGNC symbol
- SOCS2
- Aliases
- CIS2; SSI2; Cish2; SSI-2; SOCS-2; STATI2
- Common name
- suppressor of cytokine signaling 2
- Description
- This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
- OMIM
- 605117
- Ensembl
- ENSG00000120833
- UniProt/Swiss-Prot
- A0A024RBD2_HUMAN
- Entrez Gene
- 8835
- UniGene
- 485572
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
SOD2
Gene details
- HGNC symbol
- SOD2
- Aliases
- IPOB; IPO-B; MNSOD; MVCD6; Mn-SOD
- Common name
- superoxide dismutase 2
- Description
- This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
- Other longevity studies of this gene
- 21
- OMIM
- 147460
- Ensembl
- ENSG00000112096
- UniProt/Swiss-Prot
- A0A0C4DFU1_HUMAN
- Entrez Gene
- 6648
- UniGene
- 487046
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- sod-3
- Danio rerio
- sod2
- Drosophila melanogaster
- Sod2
- Mus musculus
- Sod2
- Rattus norvegicus
- Sod2
- Saccharomyces cerevisiae
- SOD2
- Schizosaccharomyces pombe
- SPBC16A3.14
In other databases
SORCS1
Gene details
- HGNC symbol
- SORCS1
- Aliases
- hSorCS
- Common name
- sortilin related VPS10 domain containing receptor 1
- Description
- This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 606283
- Ensembl
- ENSG00000108018
- UniProt/Swiss-Prot
- A8K182_HUMAN
- Entrez Gene
- 114815
- UniGene
- 591915
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- CABZ01076351.1
- Mus musculus
- Sorcs1
- Rattus norvegicus
- Sorcs1
SORCS2
Gene details
- HGNC symbol
- SORCS2
- Aliases
- Common name
- sortilin related VPS10 domain containing receptor 2
- Description
- This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
- OMIM
- 606284
- Ensembl
- ENSG00000184985
- UniProt/Swiss-Prot
- SORC2_HUMAN
- Entrez Gene
- 57537
- UniGene
- 479099
- HapMap
- View on HapMap
Homologs in model organisms
SUMF1
Gene details
- HGNC symbol
- SUMF1
- Aliases
- FGE; UNQ3037; AAPA3037
- Common name
- sulfatase modifying factor 1
- Description
- This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
- Other longevity studies of this gene
- 2
- OMIM
- 607939
- Ensembl
- ENSG00000144455
- UniProt/Swiss-Prot
- SUMF1_HUMAN
- Entrez Gene
- 285362
- UniGene
- 350475
- HapMap
- View on HapMap
Homologs in model organisms
SYNE1
Gene details
- HGNC symbol
- SYNE1
- Aliases
- 8B; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
- Common name
- spectrin repeat containing nuclear envelope protein 1
- Description
- This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
- OMIM
- 608441
- Ensembl
- ENSG00000131018
- UniProt/Swiss-Prot
- A0A0C4DG40_HUMAN
- Entrez Gene
- 23345
- UniGene
- 12967
- HapMap
- View on HapMap
Homologs in model organisms
SYT13
Gene details
- HGNC symbol
- SYT13
- Aliases
- Common name
- synaptotagmin 13
- Description
- This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
- OMIM
- 607716
- Ensembl
- ENSG00000019505
- UniProt/Swiss-Prot
- SYT13_HUMAN
- Entrez Gene
- 57586
- UniGene
- 436643
- HapMap
- View on HapMap
Homologs in model organisms
TBL1XR1
Gene details
- HGNC symbol
- TBL1XR1
- Aliases
- C21; DC42; IRA1; MRD41; TBLR1
- Common name
- transducin beta like 1 X-linked receptor 1
- Description
- This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
- OMIM
- 608628
- Ensembl
- ENSG00000177565
- UniProt/Swiss-Prot
- TBL1R_HUMAN
- Entrez Gene
- 79718
- UniGene
- 714201
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- zgc:110312
- Drosophila melanogaster
- ebi
- Mus musculus
- Tbl1xr1
- Rattus norvegicus
- Tbl1xr1
- Schizosaccharomyces pombe
- hif2
TBXAS1
Gene details
- HGNC symbol
- TBXAS1
- Aliases
- TS; TXS; CYP5; THAS; TXAS; CYP5A1; GHOSAL; BDPLT14
- Common name
- thromboxane A synthase 1
- Description
- This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
- OMIM
- 274180
- Ensembl
- ENSG00000059377
- UniProt/Swiss-Prot
- A0A0A0MSK3_HUMAN
- Entrez Gene
- 6916
- UniGene
- 520757
- HapMap
- View on HapMap
Homologs in model organisms
TENM4
Gene details
- HGNC symbol
- TENM4
- Aliases
- Doc4; ETM5; ODZ4; TNM4; ten-4; Ten-M4
- Common name
- teneurin transmembrane protein 4
- Description
- The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]
- Other longevity studies of this gene
- 3
- OMIM
- 610084
- Ensembl
- ENSG00000149256
- UniProt/Swiss-Prot
- TEN4_HUMAN
- Entrez Gene
- 26011
- UniGene
- 213087
- HapMap
- View on HapMap
Homologs in model organisms
THSD7B
Gene details
- HGNC symbol
- THSD7B
- Aliases
- Common name
- thrombospondin type 1 domain containing 7B
- Description
- OMIM
- Ensembl
- ENSG00000144229
- UniProt/Swiss-Prot
- E7EM75_HUMAN
- Entrez Gene
- 80731
- UniGene
- 68533
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
TMEM151B
Gene details
- HGNC symbol
- TMEM151B
- Aliases
- TMEM193; C6orf137; bA444E17.5
- Common name
- transmembrane protein 151B
- Description
- OMIM
- Ensembl
- ENSG00000178233
- UniProt/Swiss-Prot
- T151B_HUMAN
- Entrez Gene
- 441151
- UniGene
- 632851
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100333401
- Mus musculus
- Tmem151b
- Rattus norvegicus
- Tmem151b
TMEM2
Gene details
- HGNC symbol
- TMEM2
- Aliases
- Common name
- transmembrane protein 2
- Description
- This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]
- OMIM
- 605835
- Ensembl
- ENSG00000135048
- UniProt/Swiss-Prot
- A0A024R229_HUMAN
- Entrez Gene
- 23670
- UniGene
- 494146
- HapMap
- View on HapMap
Homologs in model organisms
TNFRSF11A
Gene details
- HGNC symbol
- TNFRSF11A
- Aliases
- FEO; OFE; ODFR; OSTS; PDB2; RANK; CD265; OPTB7; TRANCER; LOH18CR1
- Common name
- TNF receptor superfamily member 11a
- Description
- The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
- OMIM
- 603499
- Ensembl
- ENSG00000141655
- UniProt/Swiss-Prot
- TNR11_HUMAN
- Entrez Gene
- 8792
- UniGene
- 204044
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- CT573348.1
- Mus musculus
- Tnfrsf11a
- Rattus norvegicus
- Tnfrsf11a
TNFSF8
Gene details
- HGNC symbol
- TNFSF8
- Aliases
- CD153; CD30L; CD30LG; TNLG3A
- Common name
- TNF superfamily member 8
- Description
- The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
- OMIM
- 603875
- Ensembl
- ENSG00000106952
- UniProt/Swiss-Prot
- A0A087X228_HUMAN
- Entrez Gene
- 944
- UniGene
- 494901
- HapMap
- View on HapMap
Homologs in model organisms
TOMM40
Gene details
- HGNC symbol
- TOMM40
- Aliases
- TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E
- Common name
- translocase of outer mitochondrial membrane 40
- Description
- The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
- Other longevity studies of this gene
- 6
- OMIM
- 608061
- Ensembl
- ENSG00000130204
- UniProt/Swiss-Prot
- TOM40_HUMAN
- Entrez Gene
- 10452
- UniGene
- 655909
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as TOMM40
TOX
Gene details
- HGNC symbol
- TOX
- Aliases
- TOX1
- Common name
- thymocyte selection associated high mobility group box
- Description
- The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
- OMIM
- 606863
- Ensembl
- ENSG00000198846
- UniProt/Swiss-Prot
- TOX_HUMAN
- Entrez Gene
- 9760
- UniGene
- 491805
- HapMap
- View on HapMap
Homologs in model organisms
TRIM25
Gene details
- HGNC symbol
- TRIM25
- Aliases
- EFP; Z147; RNF147; ZNF147
- Common name
- tripartite motif containing 25
- Description
- The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]
- OMIM
- 600453
- Ensembl
- ENSG00000121060
- UniProt/Swiss-Prot
- TRI25_HUMAN
- Entrez Gene
- 7706
- UniGene
- 528952
- HapMap
- View on HapMap
Homologs in model organisms
TTC27
Gene details
- HGNC symbol
- TTC27
- Aliases
- Common name
- tetratricopeptide repeat domain 27
- Description
- OMIM
- Ensembl
- ENSG00000018699
- UniProt/Swiss-Prot
- B4DRC7_HUMAN
- Entrez Gene
- 55622
- UniGene
- 468125
- HapMap
- View on HapMap
Homologs in model organisms
TTC6
Gene details
- HGNC symbol
- TTC6
- Aliases
- C14orf25; NCRNA00291
- Common name
- tetratricopeptide repeat domain 6
- Description
- OMIM
- Ensembl
- ENSG00000139865
- UniProt/Swiss-Prot
- Entrez Gene
- 319089
- UniGene
- 659936
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
TUSC3
Gene details
- HGNC symbol
- TUSC3
- Aliases
- M33; N33; MRT7; MRT22; OST3A; D8S1992
- Common name
- tumor suppressor candidate 3
- Description
- This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 601385
- Ensembl
- ENSG00000104723
- UniProt/Swiss-Prot
- TUSC3_HUMAN
- Entrez Gene
- 7991
- UniGene
- 426324
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as OST3
UBE2H
Gene details
- HGNC symbol
- UBE2H
- Aliases
- GID3; UBC8; UBCH; UBCH2; E2-20K
- Common name
- ubiquitin conjugating enzyme E2 H
- Description
- The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]
- OMIM
- 601082
- Ensembl
- ENSG00000186591
- UniProt/Swiss-Prot
- A4D1L5_HUMAN
- Entrez Gene
- 7328
- UniGene
- 643548
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- ubc-8
- Danio rerio
- ube2h
- Drosophila melanogaster
- Ubc-E2H
- Mus musculus
- Ube2h
- Rattus norvegicus
- Ube2h
- Saccharomyces cerevisiae
- UBC8
- Schizosaccharomyces pombe
- ubc8
In other databases
WDR72
Gene details
- HGNC symbol
- WDR72
- Aliases
- AI2A3
- Common name
- WD repeat domain 72
- Description
- This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
- OMIM
- 613214
- Ensembl
- ENSG00000166415
- UniProt/Swiss-Prot
- A0A087WTC3_HUMAN
- Entrez Gene
- 256764
- UniGene
- 122125
- HapMap
- View on HapMap
Homologs in model organisms
WRN
Gene details
- HGNC symbol
- WRN
- Aliases
- RECQ3; RECQL2; RECQL3
- Common name
- Werner syndrome RecQ like helicase
- Description
- This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 25
- OMIM
- 604611
- Ensembl
- ENSG00000165392
- UniProt/Swiss-Prot
- Q59F09_HUMAN
- Entrez Gene
- 7486
- UniGene
- 632050
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- wrn-1
- Danio rerio
- wrn
- Mus musculus
- Wrn
- Rattus norvegicus
- Wrn
- Saccharomyces cerevisiae
- SGS1
In other databases
WWOX
Gene details
- HGNC symbol
- WWOX
- Aliases
- FOR; WOX1; EIEE28; FRA16D; SCAR12; HHCMA56; PRO0128; SDR41C1; D16S432E
- Common name
- WW domain containing oxidoreductase
- Description
- This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
- OMIM
- 605131
- Ensembl
- ENSG00000186153
- UniProt/Swiss-Prot
- WWOX_HUMAN
- Entrez Gene
- 51741
- UniGene
- 461453
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_F32A5.8
- Danio rerio
- wwox
- Drosophila melanogaster
- Wwox
- Mus musculus
- Wwox
- Rattus norvegicus
- Wwox
XDH
Gene details
- HGNC symbol
- XDH
- Aliases
- XO; XOR; XAN1
- Common name
- xanthine dehydrogenase
- Description
- Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]
- Other longevity studies of this gene
- 23
- OMIM
- 607633
- Ensembl
- ENSG00000158125
- UniProt/Swiss-Prot
- XDH_HUMAN
- Entrez Gene
- 7498
- UniGene
- 250
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Drosophila melanogaster is present as ry
XKR6
Gene details
- HGNC symbol
- XKR6
- Aliases
- XRG6; C8orf5; C8orf7; C8orf21
- Common name
- XK related 6
- Description
- Other longevity studies of this gene
- 2
- OMIM
- Ensembl
- ENSG00000171044
- UniProt/Swiss-Prot
- Q96KT3_HUMAN
- Entrez Gene
- 286046
- UniGene
- 657083
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100538317
- Drosophila melanogaster
- CG18635
- Mus musculus
- Xkr6
- Rattus norvegicus
- Xkr6
ZBTB20
Gene details
- HGNC symbol
- ZBTB20
- Aliases
- HOF; DPZF; PRIMS; ODA-8S; ZNF288
- Common name
- zinc finger and BTB domain containing 20
- Description
- This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
- OMIM
- 606025
- Ensembl
- ENSG00000181722
- UniProt/Swiss-Prot
- B2RCW4_HUMAN
- Entrez Gene
- 26137
- UniGene
- 202577
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as ZBTB20
ZWINT
Gene details
- HGNC symbol
- ZWINT
- Aliases
- SIP30; ZWINT1; KNTC2AP; HZwint-1
- Common name
- ZW10 interacting kinetochore protein
- Description
- This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 609177
- Ensembl
- ENSG00000122952
- UniProt/Swiss-Prot
- ZWINT_HUMAN
- Entrez Gene
- 11130
- UniGene
- 591363
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as ZWINT