LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- German
- Study Design
- Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
- Conclusions
- Fifteen SNPs had indicative association with longevity, even if not statistically significant after correcting for multiple hypothesis testing. None of these SNPs were validated in the follow-up analysis. Since rs12741354 (in ASTN1) was nearly significant, it was further investigated in French centenarians but it failed to be associated with longevity.
Variants (16)
- Gene summary:
- No gene (9)
- ASTN1 (1)
- LOC105378963 (1)
- LOC107987427 (1)
- MOG (1)
- NEDD4L (1)
- TP53 (1)
- ZFP57 (1)
No gene
ASTN1
Gene details
- HGNC symbol
- ASTN1
- Aliases
- ASTN
- Common name
- astrotactin 1
- Description
- Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]
- OMIM
- 600904
- Ensembl
- ENSG00000152092
- UniProt/Swiss-Prot
- A6H8Y4_HUMAN
- Entrez Gene
- 460
- UniGene
- 495897
- HapMap
- View on HapMap
Homologs in model organisms
LOC105378963
Gene details
- HGNC symbol
- LOC105378963
- Aliases
- Common name
- uncharacterized LOC105378963
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105378963
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LOC107987427
Gene details
- HGNC symbol
- LOC107987427
- Aliases
- Common name
- uncharacterized LOC107987427
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107987427
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
MOG
Gene details
- HGNC symbol
- MOG
- Aliases
- BTN6; BTNL11; MOGIG2; NRCLP7
- Common name
- myelin oligodendrocyte glycoprotein
- Description
- The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
- OMIM
- 159465
- Ensembl
- ENSG00000204655
- UniProt/Swiss-Prot
- MOG_HUMAN
- Entrez Gene
- 4340
- UniGene
- 141308
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- cabz01076234.2
- Danio rerio
- zgc:123297
- Danio rerio
- CABZ01059909.1
- Danio rerio
- zgc:175177
- Danio rerio
- CABZ01059909.2
- Danio rerio
- CABZ01059912.2
- Danio rerio
- zgc:162154
- Mus musculus
- Mog
- Rattus norvegicus
- Mog
NEDD4L
Gene details
- HGNC symbol
- NEDD4L
- Aliases
- RSP5; PVNH7; NEDD4-2; NEDD4.2; hNEDD4-2
- Common name
- neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
- Description
- This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
- OMIM
- 606384
- Ensembl
- ENSG00000049759
- UniProt/Swiss-Prot
- A0A024R281_HUMAN
- Entrez Gene
- 23327
- UniGene
- 185677
- HapMap
- View on HapMap
Homologs in model organisms
TP53
Gene details
- HGNC symbol
- TP53
- Aliases
- P53; BCC7; LFS1; TRP53
- Common name
- tumor protein p53
- Description
- This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
- Other longevity studies of this gene
- 47
- OMIM
- 191170
- Ensembl
- ENSG00000141510
- UniProt/Swiss-Prot
- A0A087WT22_HUMAN
- Entrez Gene
- 7157
- UniGene
- 437460
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- tp53
- Mus musculus
- Trp53
- Rattus norvegicus
- LOC100910954
In other databases
ZFP57
Gene details
- HGNC symbol
- ZFP57
- Aliases
- TNDM1; ZNF698; C6orf40; bA145L22; bA145L22.2
- Common name
- ZFP57 zinc finger protein
- Description
- The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
- OMIM
- 612192
- Ensembl
- ENSG00000204644
- UniProt/Swiss-Prot
- B7ZW61_HUMAN
- Entrez Gene
- 346171
- UniGene
- 156326
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Zfp57
- Rattus norvegicus
- Zfp57
- Rattus norvegicus
- AABR07055919.1