LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- American, English, Irish
- Study Design
- 10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
- Conclusions
- Some signals were at best tentative but may merit study in larger sample sets
Variants (41)
- Gene summary:
- No gene (14)
- ANK2 (1)
- ART3 (1)
- CNR1 (1)
- CNTN5 (1)
- CYTH3 (3)
- ERBB4 (1)
- ERICH5 (1)
- FAM19A1 (2)
- FAT4 (1)
- FRMD4A (1)
- GRIA4 (1)
- LRIF1 (1)
- MOB3B (1)
- NAAA (2)
- OR5F2P (1)
- PDLIM5 (1)
- PXYLP1 (1)
- SDAD1 (2)
- SLCO1B1 (1)
- ST6GAL1 (1)
- UCK2 (1)
- UMAD1 (1)
No gene
ANK2
Gene details
- HGNC symbol
- ANK2
- Aliases
- LQT4; ANK-2; brank-2
- Common name
- ankyrin 2
- Description
- This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
- OMIM
- 106410
- Ensembl
- ENSG00000145362
- UniProt/Swiss-Prot
- A0A024RDI4_HUMAN
- Entrez Gene
- 287
- UniGene
- 620557
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- CR388002.1
- Mus musculus
- Ank2
- Rattus norvegicus
- Ank2
ART3
Gene details
- HGNC symbol
- ART3
- Aliases
- ARTC3
- Common name
- ADP-ribosyltransferase 3
- Description
- This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
- OMIM
- 603086
- Ensembl
- ENSG00000156219
- UniProt/Swiss-Prot
- NAR3_HUMAN
- Entrez Gene
- 419
- UniGene
- 24976
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-163m16.7
- Mus musculus
- Art3
- Rattus norvegicus
- Art3
CNR1
Gene details
- HGNC symbol
- CNR1
- Aliases
- CB1; CNR; CB-R; CB1A; CB1R; CANN6; CB1K5
- Common name
- cannabinoid receptor 1
- Description
- This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]
- OMIM
- 114610
- Ensembl
- ENSG00000118432
- UniProt/Swiss-Prot
- CNR1_HUMAN
- Entrez Gene
- 1268
- UniGene
- 75110
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as CNR1
CNTN5
Gene details
- HGNC symbol
- CNTN5
- Aliases
- NB-2; HNB-2s
- Common name
- contactin 5
- Description
- The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 607219
- Ensembl
- ENSG00000149972
- UniProt/Swiss-Prot
- CNTN5_HUMAN
- Entrez Gene
- 53942
- UniGene
- 656783
- HapMap
- View on HapMap
Homologs in model organisms
CYTH3
Gene details
- HGNC symbol
- CYTH3
- Aliases
- GRP1; ARNO3; PSCD3; cytohesin-3
- Common name
- cytohesin 3
- Description
- This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 605081
- Ensembl
- ENSG00000008256
- UniProt/Swiss-Prot
- CYH3_HUMAN
- Entrez Gene
- 9265
- UniGene
- 487479
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100537448
- Mus musculus
- Cyth3
- Rattus norvegicus
- Cyth3
ERBB4
Gene details
- HGNC symbol
- ERBB4
- Aliases
- HER4; ALS19; p180erbB4
- Common name
- erb-b2 receptor tyrosine kinase 4
- Description
- This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. 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
- 600543
- Ensembl
- ENSG00000178568
- UniProt/Swiss-Prot
- ERBB4_HUMAN
- Entrez Gene
- 2066
- UniGene
- 390729
- HapMap
- View on HapMap
Homologs in model organisms
ERICH5
Gene details
- HGNC symbol
- ERICH5
- Aliases
- C8orf47
- Common name
- glutamate rich 5
- Description
- OMIM
- Ensembl
- ENSG00000177459
- UniProt/Swiss-Prot
- ERIC5_HUMAN
- Entrez Gene
- 203111
- UniGene
- 171455
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- uncharacterized_Q8K0
- Rattus norvegicus
- LOC681820
FAM19A1
Gene details
- HGNC symbol
- FAM19A1
- Aliases
- TAFA1; TAFA-1
- Common name
- family with sequence similarity 19 member A1, C-C motif chemokine like
- Description
- This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000183662
- UniProt/Swiss-Prot
- F19A1_HUMAN
- Entrez Gene
- 407738
- UniGene
- 655061
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- CR631124.1
- Mus musculus
- Fam19a1
- Rattus norvegicus
- Fam19a1
FAT4
Gene details
- HGNC symbol
- FAT4
- Aliases
- FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548
- Common name
- FAT atypical cadherin 4
- Description
- The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
- OMIM
- 612411
- Ensembl
- ENSG00000196159
- UniProt/Swiss-Prot
- B3KU84_HUMAN
- Entrez Gene
- 79633
- UniGene
- 563205
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- cdh-1
- Danio rerio
- uncharacterized_F1RE
- Drosophila melanogaster
- ft
- Mus musculus
- Fat4
- Rattus norvegicus
- Fat4
FRMD4A
Gene details
- HGNC symbol
- FRMD4A
- Aliases
- FRMD4; CCAFCA; bA295P9.4
- Common name
- FERM domain containing 4A
- Description
- This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
- OMIM
- 616305
- Ensembl
- ENSG00000151474
- UniProt/Swiss-Prot
- FRM4A_HUMAN
- Entrez Gene
- 55691
- UniGene
- 330463
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-220f12.1
- Mus musculus
- Frmd4a
- Rattus norvegicus
- Frmd4a
GRIA4
Gene details
- HGNC symbol
- GRIA4
- Aliases
- GLUR4; GLURD; GluA4; GLUR4C
- Common name
- glutamate ionotropic receptor AMPA type subunit 4
- Description
- Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]
- OMIM
- 138246
- Ensembl
- ENSG00000152578
- UniProt/Swiss-Prot
- GRIA4_HUMAN
- Entrez Gene
- 2893
- UniGene
- 503743
- HapMap
- View on HapMap
Homologs in model organisms
LRIF1
Gene details
- HGNC symbol
- LRIF1
- Aliases
- RIF1; C1orf103
- Common name
- ligand dependent nuclear receptor interacting factor 1
- Description
- OMIM
- 615354
- Ensembl
- ENSG00000121931
- UniProt/Swiss-Prot
- LRIF1_HUMAN
- Entrez Gene
- 55791
- UniGene
- 25245
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- si:ch211-261n11.6
- Mus musculus
- Lrif1
- Rattus norvegicus
- Lrif1
MOB3B
Gene details
- HGNC symbol
- MOB3B
- Aliases
- MOB1D; C9orf35; MOBKL2B
- Common name
- MOB kinase activator 3B
- Description
- The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008]
- OMIM
- Ensembl
- ENSG00000120162
- UniProt/Swiss-Prot
- MOB3B_HUMAN
- Entrez Gene
- 79817
- UniGene
- 369022
- HapMap
- View on HapMap
Homologs in model organisms
NAAA
Gene details
- HGNC symbol
- NAAA
- Aliases
- PLT; ASAHL
- Common name
- N-acylethanolamine acid amidase
- Description
- This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 607469
- Ensembl
- ENSG00000138744
- UniProt/Swiss-Prot
- NAAA_HUMAN
- Entrez Gene
- 27163
- UniGene
- 437365
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y55D5A.3
- Mus musculus
- Naaa
- Rattus norvegicus
- Naaa
OR5F2P
Gene details
- HGNC symbol
- OR5F2P
- Aliases
- Common name
- olfactory receptor family 5 subfamily F member 2 pseudogene
- Description
- Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 81194
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
PDLIM5
Gene details
- HGNC symbol
- PDLIM5
- Aliases
- L9; ENH; LIM; ENH1
- Common name
- PDZ and LIM domain 5
- Description
- This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
- OMIM
- 605904
- Ensembl
- ENSG00000163110
- UniProt/Swiss-Prot
- A0A024RDE8_HUMAN
- Entrez Gene
- 10611
- UniGene
- 480311
- HapMap
- View on HapMap
Homologs in model organisms
PXYLP1
Gene details
- HGNC symbol
- PXYLP1
- Aliases
- XYLP; ACPL2; HEL124
- Common name
- 2-phosphoxylose phosphatase 1
- Description
- OMIM
- Ensembl
- ENSG00000155893
- UniProt/Swiss-Prot
- B7Z3R9_HUMAN
- Entrez Gene
- 92370
- UniGene
- 657887
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_ZK809.9
- Danio rerio
- acpl2
- Drosophila melanogaster
- CG15385
- Mus musculus
- Acpl2
- Rattus norvegicus
- Acpl2
SDAD1
Gene details
- HGNC symbol
- SDAD1
- Aliases
- Common name
- SDA1 domain containing 1
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000198301
- UniProt/Swiss-Prot
- B4DT66_HUMAN
- Entrez Gene
- 55153
- UniGene
- 632604
- HapMap
- View on HapMap
Homologs in model organisms
SLCO1B1
Gene details
- HGNC symbol
- SLCO1B1
- Aliases
- LST1; HBLRR; LST-1; OATP2; OATPC; OATP-C; OATP1B1; SLC21A6
- Common name
- solute carrier organic anion transporter family member 1B1
- Description
- This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]
- OMIM
- 604843
- Ensembl
- ENSG00000134538
- UniProt/Swiss-Prot
- A0A024RAU7_HUMAN
- Entrez Gene
- 10599
- UniGene
- 449738
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
ST6GAL1
Gene details
- HGNC symbol
- ST6GAL1
- Aliases
- ST6N; SIAT1; ST6GalI
- Common name
- ST6 beta-galactoside alpha-2,6-sialyltransferase 1
- Description
- This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Three transcript variants encoding two different isoforms have been described. [provided by RefSeq, Aug 2009]
- OMIM
- 109675
- Ensembl
- ENSG00000073849
- UniProt/Swiss-Prot
- SIAT1_HUMAN
- Entrez Gene
- 6480
- UniGene
- 207459
- HapMap
- View on HapMap
Homologs in model organisms
UCK2
Gene details
- HGNC symbol
- UCK2
- Aliases
- UK; UMPK; TSA903
- Common name
- uridine-cytidine kinase 2
- Description
- This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]
- OMIM
- 609329
- Ensembl
- ENSG00000143179
- UniProt/Swiss-Prot
- A0A024R912_HUMAN
- Entrez Gene
- 7371
- UniGene
- 458360
- HapMap
- View on HapMap
Homologs in model organisms
UMAD1
Gene details
- HGNC symbol
- UMAD1
- Aliases
- RPA3OS; RPA3-AS1
- Common name
- UBAP1-MVB12-associated (UMA) domain containing 1
- Description
- OMIM
- Ensembl
- ENSG00000219545
- UniProt/Swiss-Prot
- A4D104_HUMAN
- Entrez Gene
- 729852
- UniGene
- 652371
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found