LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
A genome-wide linkage scan on human longevity was performed in 279 families with multiple long-lived siblings
Conclusions
One locus on chromosome 9q31-34 was borderline significant and a peak on 12q24 was detected in a subset of the data. There was also modest evidence for a peak on 4q22-25.
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

Homologs in model organisms

Danio rerio
tp53
Mus musculus
Tp53
Rattus norvegicus
Tp53

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Trp53
GenAge human genes
  • This gene is present as TP53
CellAge
  • This gene is present as TP53

References

Boyden and Kunkel (2010)

Other variants which are also part of this study