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 time to event after correcting for multiple testing, but 8 independent SNPs predicted event-free survival at a suggestive threshold

Variants (8)

ADGRL4

1.
Identifier
rs11162963
Cytogenetic Location
1p31.1
UCSC Genome Browser
View 1p31.1 on the UCSC genome browser

Gene details

HGNC symbol
ADGRL4
Aliases
ETL; ELTD1; KPG_003 
Common name
adhesion G protein-coupled receptor L4 
Description
OMIM
616419
Ensembl
ENSG00000162618
UniProt/Swiss-Prot
AGRL4_HUMAN
Entrez Gene
64123
UniGene
132314
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
eltd1
Mus musculus
Eltd1
Rattus norvegicus
Eltd1

ATCAY

1.
Identifier
rs10412199
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser

Gene details

HGNC symbol
ATCAY
Aliases
CLAC; BNIP-H 
Common name
ATCAY, caytaxin 
Description
This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
OMIM
608179
Ensembl
ENSG00000167654
UniProt/Swiss-Prot
A0A0S2Z5T8_HUMAN
Entrez Gene
85300
UniGene
418055
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
atcaya
Mus musculus
Atcay
Rattus norvegicus
Atcay

COL6A3

1.
Identifier
rs10202497
Cytogenetic Location
2q37.3
UCSC Genome Browser
View 2q37.3 on the UCSC genome browser

Gene details

HGNC symbol
COL6A3
Aliases
DYT27; UCMD1; BTHLM1 
Common name
collagen type VI alpha 3 chain 
Description
This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
OMIM
120250
Ensembl
ENSG00000163359
UniProt/Swiss-Prot
B7ZW00_HUMAN
Entrez Gene
1293
UniGene
233240
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
col6a3
Mus musculus
Col6a3
Rattus norvegicus
Col6a3

GRIA1

1.
Identifier
rs3112530
Cytogenetic Location
5q33.2
UCSC Genome Browser
View 5q33.2 on the UCSC genome browser

Gene details

HGNC symbol
GRIA1
Aliases
GLUH1; GLUR1; GLURA; GluA1; HBGR1 
Common name
glutamate ionotropic receptor AMPA type subunit 1 
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 with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM
138248
Ensembl
ENSG00000155511
UniProt/Swiss-Prot
GRIA1_HUMAN
Entrez Gene
2890
UniGene
519693
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
gria1b
Drosophila melanogaster
Glu-RI
Mus musculus
Gria1
Rattus norvegicus
Gria1

GRIN2B

1.
Identifier
rs4764043
Cytogenetic Location
12p13.1
UCSC Genome Browser
View 12p13.1 on the UCSC genome browser

Gene details

HGNC symbol
GRIN2B
Aliases
MRD6; NR2B; hNR3; EIEE27; GluN2B; NMDAR2B 
Common name
glutamate ionotropic receptor NMDA type subunit 2B 
Description
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq, Jul 2008]
OMIM
138252
Ensembl
ENSG00000273079
UniProt/Swiss-Prot
NMDE2_HUMAN
Entrez Gene
2904
UniGene
504844
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
grin2bb
Mus musculus
Grin2b
Rattus norvegicus
Grin2b

MECOM

1.
Identifier
rs16852912
Cytogenetic Location
3q26.2
UCSC Genome Browser
View 3q26.2 on the UCSC genome browser

Gene details

HGNC symbol
MECOM
Aliases
EVI1; MDS1; KMT8E; PRDM3; RUSAT2; MDS1-EVI1; AML1-EVI-1 
Common name
MDS1 and EVI1 complex locus 
Description
The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
OMIM
165215
Ensembl
ENSG00000085276
UniProt/Swiss-Prot
A0A0C3SFZ7_HUMAN
Entrez Gene
2122
UniGene
744090
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mecom
Mus musculus
Mecom
Rattus norvegicus
Mecom

ST3GAL3

1.
Identifier
rs2367725
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser

Gene details

HGNC symbol
ST3GAL3
Aliases
ST3N; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII 
Common name
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 
Description
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
OMIM
606494
Ensembl
ENSG00000126091
UniProt/Swiss-Prot
B4DX62_HUMAN
Entrez Gene
6487
UniGene
597915
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
st3gal3a
Mus musculus
St3gal3
Rattus norvegicus
St3gal3

SUCLA2

1.
Identifier
rs8001976
Cytogenetic Location
13q14.2
UCSC Genome Browser
View 13q14.2 on the UCSC genome browser

Gene details

HGNC symbol
SUCLA2
Aliases
A-SCS; A-BETA; MTDPS5; SCS-betaA 
Common name
succinate-CoA ligase ADP-forming beta subunit 
Description
Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
OMIM
603921
Ensembl
ENSG00000136143
UniProt/Swiss-Prot
E5KS60_HUMAN
Entrez Gene
8803
UniGene
743361
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
F47B10.1
Danio rerio
sucla2
Drosophila melanogaster
skap
Mus musculus
Sucla2
Rattus norvegicus
Sucla2
Saccharomyces cerevisiae
LSC2
Schizosaccharomyces pombe
SPCC1620.08

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as LSC2

References

Walter et al. (2011)

Other variants which are also part of this study