FHIT fragile histidine triad diadenosine triphosphatase
Gene ID: 2272, updated on 2-Nov-2024Gene type: protein coding
Also known as: FRA3B; AP3Aase
- See all available tests in GTR for this gene
- Go to complete Gene record for FHIT
- Go to Variation Viewer for FHIT variants
Summary
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study (GWAS) for bronchopulmonary dysplasia. GeneReviews: Not available | |
| A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. GeneReviews: Not available | |
| Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. GeneReviews: Not available | |
| Genetic variants associated with breast size also influence breast cancer risk. GeneReviews: Not available | |
| Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. GeneReviews: Not available | |
| Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. GeneReviews: Not available | |
| Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. GeneReviews: Not available | |
| Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). GeneReviews: Not available | |
| Genome-wide association study of maternal and inherited loci for conotruncal heart defects. GeneReviews: Not available | |
| Genome-wide association study of recurrent early-onset major depressive disorder. GeneReviews: Not available | |
| Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. GeneReviews: Not available | |
| Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. GeneReviews: Not available | |
| Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D. GeneReviews: Not available | |
| Variants in several genomic regions associated with asperger disorder. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Haploinsufficency |
Genomic context
- Location:
- 3p14.2
- Sequence:
- Chromosome: 3; NC_000003.12 (59747277..61251452, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FHIT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FHIT database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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