LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Central)
- Study Design
- A cross-sectional population study of 1072 individuals (18–106 years old) was performed and TP53 variants were analyzed
- Conclusions
- The variant rs1042522 affects females longevity, showing significant associations with longevity in the comparison of individuals >91 years old with individuals aged 73-91 years old. The TP53 P72 allele is significantly underrepresented in the >91 years old women group.
- Identifier
- rs1042522
- In Other Studies (IDs)
- 381 1979
- Cytogenetic Location
- 17p13.1
- UCSC Genome Browser
- View 17p13.1 on the UCSC genome browser
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