LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
- Conclusions
- No SNP was significantly associated with mortality after correcting for multiple testing, but 14 independent SNPs were associated with time to death at a suggestive threshold
Variants (14)
- Gene summary:
- ATG4C (1)
- BIN2 (1)
- COL5A1 (1)
- GRAMD1B (1)
- HECW2 (1)
- HIP1 (1)
- KCNQ4 (1)
- LMO4 (1)
- LOC107987043 (1)
- MYLK4 (1)
- NETO1 (1)
- ORC5 (1)
- OTOL1 (1)
- VWA5A (1)
ATG4C
Gene details
- HGNC symbol
- ATG4C
- Aliases
- APG4C; AUTL1; AUTL3; APG4-C
- Common name
- autophagy related 4C cysteine peptidase
- Description
- Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]
- OMIM
- 611339
- Ensembl
- ENSG00000125703
- UniProt/Swiss-Prot
- ATG4C_HUMAN
- Entrez Gene
- 84938
- UniGene
- 7353
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- atg-4.2
- Danio rerio
- atg4c
- Drosophila melanogaster
- CG6194-RA
- Mus musculus
- Atg4c
- Rattus norvegicus
- Atg4c
- Schizosaccharomyces pombe
- atg4
In other databases
- GenAge model organism genes
- A homolog of this gene for Caenorhabditis elegans is present as atg-4.2
BIN2
Gene details
- HGNC symbol
- BIN2
- Aliases
- BRAP-1
- Common name
- bridging integrator 2
- Description
- OMIM
- 605936
- Ensembl
- ENSG00000110934
- UniProt/Swiss-Prot
- A0A087X188_HUMAN
- Entrez Gene
- 51411
- UniGene
- 14770
- HapMap
- View on HapMap
Homologs in model organisms
COL5A1
Gene details
- HGNC symbol
- COL5A1
- Aliases
- EDSC
- Common name
- collagen type V alpha 1 chain
- Description
- This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
- OMIM
- 120215
- Ensembl
- ENSG00000130635
- UniProt/Swiss-Prot
- A0A024R8E5_HUMAN
- Entrez Gene
- 1289
- UniGene
- 210283
- HapMap
- View on HapMap
Homologs in model organisms
GRAMD1B
Gene details
- HGNC symbol
- GRAMD1B
- Aliases
- Common name
- GRAM domain containing 1B
- Description
- OMIM
- Ensembl
- ENSG00000023171
- UniProt/Swiss-Prot
- A0A024R3M2_HUMAN
- Entrez Gene
- 57476
- UniGene
- 144725
- HapMap
- View on HapMap
Homologs in model organisms
HECW2
Gene details
- HGNC symbol
- HECW2
- Aliases
- NEDL2; NDHSAL
- Common name
- HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
- Description
- This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
- OMIM
- 617245
- Ensembl
- ENSG00000138411
- UniProt/Swiss-Prot
- HECW2_HUMAN
- Entrez Gene
- 57520
- UniGene
- 633212
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- hecw-1
- Danio rerio
- uncharacterized_F1R8
- Mus musculus
- Hecw2
- Rattus norvegicus
- Hecw2
HIP1
Gene details
- HGNC symbol
- HIP1
- Aliases
- SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma
- Common name
- huntingtin interacting protein 1
- Description
- The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
- OMIM
- 601767
- Ensembl
- ENSG00000127946
- UniProt/Swiss-Prot
- B4DK46_HUMAN
- Entrez Gene
- 3092
- UniGene
- 329266
- HapMap
- View on HapMap
Homologs in model organisms
KCNQ4
Gene details
- HGNC symbol
- KCNQ4
- Aliases
- DFNA2; KV7.4; DFNA2A
- Common name
- potassium voltage-gated channel subfamily Q member 4
- Description
- The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 603537
- Ensembl
- ENSG00000117013
- UniProt/Swiss-Prot
- B3KQH8_HUMAN
- Entrez Gene
- 9132
- UniGene
- 473058
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Kcnq4
LMO4
Gene details
- HGNC symbol
- LMO4
- Aliases
- Common name
- LIM domain only 4
- Description
- This gene encodes a cysteine-rich protein that contains two LIM domains but lacks a DNA-binding homeodomain. The encoded protein may play a role as a transcriptional regulator or as an oncogene. [provided by RefSeq, Aug 2008]
- OMIM
- 603129
- Ensembl
- ENSG00000143013
- UniProt/Swiss-Prot
- LMO4_HUMAN
- Entrez Gene
- 8543
- UniGene
- 436792
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_Y1A5A.1
- Danio rerio
- lmo4b
- Drosophila melanogaster
- CG5708
- Mus musculus
- Lmo4
- Rattus norvegicus
- Lmo4
LOC107987043
Gene details
- HGNC symbol
- LOC107987043
- Aliases
- Common name
- uncharacterized LOC107987043
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107987043
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
MYLK4
Gene details
- HGNC symbol
- MYLK4
- Aliases
- SgK085
- Common name
- myosin light chain kinase family member 4
- Description
- OMIM
- Ensembl
- ENSG00000145949
- UniProt/Swiss-Prot
- MYLK4_HUMAN
- Entrez Gene
- 340156
- UniGene
- 127830
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Mylk4
- Rattus norvegicus
- LOC100911165
NETO1
Gene details
- HGNC symbol
- NETO1
- Aliases
- BCTL1; BTCL1
- Common name
- neuropilin and tolloid like 1
- Description
- This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in mice encodes a protein that plays a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
- OMIM
- 607973
- Ensembl
- ENSG00000166342
- UniProt/Swiss-Prot
- A0A024R375_HUMAN
- Entrez Gene
- 81832
- UniGene
- 465407
- HapMap
- View on HapMap
Homologs in model organisms
ORC5
Gene details
- HGNC symbol
- ORC5
- Aliases
- ORC5L; ORC5P; ORC5T; PPP1R117
- Common name
- origin recognition complex subunit 5
- Description
- The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
- OMIM
- 602331
- Ensembl
- ENSG00000164815
- UniProt/Swiss-Prot
- A4D0P7_HUMAN
- Entrez Gene
- 5001
- UniGene
- 432948
- HapMap
- View on HapMap
Homologs in model organisms
OTOL1
Gene details
- HGNC symbol
- OTOL1
- Aliases
- C1QTNF15; C1QTNF16
- Common name
- otolin 1
- Description
- OMIM
- Ensembl
- ENSG00000182447
- UniProt/Swiss-Prot
- OTOL1_HUMAN
- Entrez Gene
- 131149
- UniGene
- 585021
- HapMap
- View on HapMap
Homologs in model organisms
VWA5A
Gene details
- HGNC symbol
- VWA5A
- Aliases
- BCSC1; BCSC-1; LOH11CR2A
- Common name
- von Willebrand factor A domain containing 5A
- Description
- OMIM
- 602929
- Ensembl
- ENSG00000110002
- UniProt/Swiss-Prot
- A0A024R3H3_HUMAN
- Entrez Gene
- 4013
- UniGene
- 152944
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- uncharacterized_E7FF
- Mus musculus
- Vwa5a
- Rattus norvegicus
- Vwa5a