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
Apart APOE, no variants appeared to be associated with aging with a genome-wide level of significance

Variants (9)

ABCA7

1.
Identifier
rs3764650
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser

Gene details

HGNC symbol
ABCA7
Aliases
AD9; ABCX; ABCA-SSN 
Common name
ATP binding cassette subfamily A member 7 
Description
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
OMIM
605414
Ensembl
ENSG00000064687
UniProt/Swiss-Prot
ABCA7_HUMAN
Entrez Gene
10347
UniGene
134514
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Abca7
Rattus norvegicus
Abca7

BIN1

1.
Identifier
rs744373
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser

Gene details

HGNC symbol
BIN1
Aliases
AMPH2; AMPHL; SH3P9 
Common name
bridging integrator 1 
Description
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
OMIM
601248
Ensembl
ENSG00000136717
UniProt/Swiss-Prot
A0A024RAE9_HUMAN
Entrez Gene
274
UniGene
193163
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:rp71-68g1.4
Drosophila melanogaster
Amph
Mus musculus
Bin1
Rattus norvegicus
Bin1

CD2AP

1.
Identifier
rs1485780
Cytogenetic Location
6p12.3
UCSC Genome Browser
View 6p12.3 on the UCSC genome browser

Gene details

HGNC symbol
CD2AP
Aliases
CMS 
Common name
CD2 associated protein 
Description
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
OMIM
604241
Ensembl
ENSG00000198087
UniProt/Swiss-Prot
CD2AP_HUMAN
Entrez Gene
23607
UniGene
485518
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y44E3A.4
Danio rerio
cd2ap
Mus musculus
Cd2ap
Rattus norvegicus
Cd2ap

CD33

1.
Identifier
rs3865444
Cytogenetic Location
19q13.41
UCSC Genome Browser
View 19q13.41 on the UCSC genome browser

Gene details

HGNC symbol
CD33
Aliases
p67; SIGLEC3; SIGLEC-3 
Common name
CD33 molecule 
Description
OMIM
159590
Ensembl
ENSG00000105383
UniProt/Swiss-Prot
CD33_HUMAN
Entrez Gene
945
UniGene
83731
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CLU

1.
Identifier
rs11136000
Cytogenetic Location
8p21.1
UCSC Genome Browser
View 8p21.1 on the UCSC genome browser

Gene details

HGNC symbol
CLU
Aliases
CLI; AAG4; APOJ; CLU1; CLU2; KUB1; SGP2; APO-J; SGP-2; SP-40; TRPM2; TRPM-2; NA1/NA2 
Common name
clusterin 
Description
The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]
OMIM
185430
Ensembl
ENSG00000120885
UniProt/Swiss-Prot
CLUS_HUMAN
Entrez Gene
1191
UniGene
436657
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
clu
Mus musculus
Clu
Rattus norvegicus
Clu

In other databases

GenAge human genes
  • This gene is present as CLU
GenAge microarray genes
  • This gene is present as CLU

CR1

1.
Identifier
rs3818361
Cytogenetic Location
1q32.2
UCSC Genome Browser
View 1q32.2 on the UCSC genome browser

Gene details

HGNC symbol
CR1
Aliases
KN; C3BR; C4BR; CD35 
Common name
complement C3b/C4b receptor 1 (Knops blood group) 
Description
This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]
OMIM
120620
Ensembl
ENSG00000203710
UniProt/Swiss-Prot
CR1_HUMAN
Entrez Gene
1378
UniGene
334019
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
CG10186

EPHA1-AS1

1.
Identifier
rs11767557
Cytogenetic Location
7q35
UCSC Genome Browser
View 7q35 on the UCSC genome browser

Gene details

HGNC symbol
EPHA1-AS1
Aliases
 
Common name
EPHA1 antisense RNA 1 
Description
OMIM
Ensembl
ENSG00000229153
UniProt/Swiss-Prot
Entrez Gene
285965
UniGene
642649
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MS4A6A

1.
Identifier
rs610932
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser

Gene details

HGNC symbol
MS4A6A
Aliases
CDA01; MS4A6; 4SPAN3; CD20L3; MST090; MSTP090; 4SPAN3.2 
Common name
membrane spanning 4-domains A6A 
Description
This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
OMIM
606548
Ensembl
ENSG00000110077
UniProt/Swiss-Prot
A0A024R516_HUMAN
Entrez Gene
64231
UniGene
523702
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ms4a6c
Rattus norvegicus
Ms4a6c

PICALM

1.
Identifier
rs3851179
In Other Studies (IDs)
324
Cytogenetic Location
11q14.2
UCSC Genome Browser
View 11q14.2 on the UCSC genome browser

Gene details

HGNC symbol
PICALM
Aliases
LAP; CALM; CLTH 
Common name
phosphatidylinositol binding clathrin assembly protein 
Description
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Other longevity studies of this gene
1
OMIM
603025
Ensembl
ENSG00000073921
UniProt/Swiss-Prot
A0A024R5L7_HUMAN
Entrez Gene
8301
UniGene
163893
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
picalm
Mus musculus
Picalm
Rattus norvegicus
Picalm

References

Shi et al. (2012)

Other variants which are also part of this study