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)
- Gene summary:
- ABCA7 (1)
- BIN1 (1)
- CD2AP (1)
- CD33 (1)
- CLU (1)
- CR1 (1)
- EPHA1-AS1 (1)
- MS4A6A (1)
- PICALM (1)
ABCA7
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
BIN1
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
In other databases
- CellAge
- This gene is present as BIN1
CD2AP
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
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
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
In other databases
CR1
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
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
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
PICALM
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