LongevityMap Gene
Gene details
- HGNC symbol
- FHIT
- Aliases
- FRA3B; AP3Aase
- Common name
- fragile histidine triad
- Description
- This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
- Cytogenetic Location
- 3p14.2
- UCSC Genome Browser
- View 3p14.2 on the UCSC genome browser
- OMIM
- 601153
- Ensembl
- ENSG00000189283
- UniProt/Swiss-Prot
- A0A024R366_HUMAN
- Entrez Gene
- 2272
- UniGene
- 655995
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- FHIT (1 of many)
- Danio rerio
- fhit
- Mus musculus
- Fhit
- Saccharomyces cerevisiae
- HNT2
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs10510828
- Reference