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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FHIT
fragile histidine triad diadenosine triphosphatase
Chromosome 3 · 3p14.2
NCBI Gene: 2272Ensembl: ENSG00000189283.11HGNC: HGNC:3701UniProt: P49789
356PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTumor Suppressor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrioncytosolubiquitin protein ligase bindingidentical protein bindingAbnormality of the skeletal systemmajor depressive disorderobesitydiabetes mellitus
✦AI Summary

FHIT encodes a dinucleoside triphosphate hydrolase located at the fragile site FRA3B on chromosome 3.2. The protein catalyzes hydrolysis of diadenosine triphosphate (Ap3A) to AMP and ADP 1, and exhibits additional enzymatic activities including adenylylsulfatase and adenylylsulfate-ammonia adenylyltransferase functions 2. Beyond its catalytic role in purine metabolism, FHIT functions as a tumor suppressor through multiple mechanisms: it inhibits MDM2-mediated p53 degradation to promote p53-dependent apoptosis 3, modulates CTNNB1-dependent transcription of proliferation genes 4, and enhances mitochondrial calcium uptake to sensitize apoptosis pathways 5. Loss of FHIT expression is among the most common alterations in human cancers including lung, esophageal, gastric, breast, and cervical malignancies 6. Recent evidence reveals FHIT functions as a genome "caretaker" whose loss causes nucleotide imbalance, replication stress, and spontaneous DNA breaks, generating a mutator phenotype that accelerates genomic instability 7. Reduced FHIT expression correlates with poor prognosis, advanced TNM staging, and lymph node metastasis in breast cancer 8. Epigenetic silencing via promoter methylation represents a common mechanism of FHIT inactivation in liver cancer 9.

Sources cited
1
FHIT possesses dinucleoside triphosphate hydrolase activity and cleaves Ap3A to AMP and ADP
PMID: 12574506
2
FHIT exhibits adenylylsulfatase and adenylylsulfate-ammonia adenylyltransferase activities
PMID: 18694747
3
FHIT inhibits MDM2-mediated proteasomal degradation of p53, promoting p53-mediated apoptosis
PMID: 15313915
4
FHIT modulates transcriptional activation by CTNNB1, regulating expression of cell proliferation genes
PMID: 18077326
5
FHIT enhances mitochondrial calcium uptake, sensitizing apoptosis induction
PMID: 19622739
6
FHIT is located at 3p14.2 and is commonly inactivated in lung, esophageal, gastric, breast, and kidney cancers
PMID: 12473516
7
FHIT functions as a genome caretaker; its loss causes nucleotide imbalance, replication stress, and induces a mutator phenotype
PMID: 25283145
8
Reduced FHIT expression in breast cancer correlates with TNM staging, lymph node metastasis, and poor 5-year overall survival
PMID: 30941950
9
FHIT promoter methylation is associated with liver cancer incidence and can be promoted by smoking and alcohol consumption
PMID: 32474857
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.51Moderate
major depressive disorderOpen Targets
0.49Moderate
obesityOpen Targets
0.48Moderate
diabetes mellitusOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.44Moderate
schizophreniaOpen Targets
0.41Moderate
smoking behaviorOpen Targets
0.40Weak
alcohol drinkingOpen Targets
0.39Weak
esophageal adenocarcinomaOpen Targets
0.38Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
pancreatic carcinomaOpen Targets
0.37Weak
papillary thyroid carcinomaOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
lobular breast carcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
Uterine CarcinosarcomaOpen Targets
0.37Weak
Pathogenic Variants1
NM_002012.4(FHIT):c.280-26365_280-26364delPathogenic
Hereditary breast ovarian cancer syndrome
★☆☆☆2021
View on ClinVar ↗
Related Genes
CDKN2AProtein interaction100%ENPP4Protein interaction90%NIT1Protein interaction90%RASSF1Protein interaction89%FDXRProtein interaction88%NUDT2Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
90%
Liver
65%
Brain
63%
Ovary
45%
Lung
30%
Gene Interaction Network
Click a node to explore
FHITCDKN2AENPP4NIT1RASSF1FDXRNUDT2
PROTEIN STRUCTURE
Preparing viewer…
PDB1FIT · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.57LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.73–1.57]
RankingsWhere FHIT stands among ~20K protein-coding genes
  • #868of 20,598
    Most Researched356 · top 5%
  • #4,650of 5,498
    Most Pathogenic Variants1
  • #15,525of 17,882
    Most Constrained (LOEUF)1.57
Genes detectedFHIT
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The FHIT gene product: tumor suppressor and genome "caretaker".
PMID: 25283145
Cell Mol Life Sci · 2014
1.00
2
Do FHIT gene alterations play a role in human solid tumors?
PMID: 29516675
Asia Pac J Clin Oncol · 2018
0.90
3
Fragile gene product, Fhit, in oxidative and replicative stress responses.
PMID: 19486340
Cancer Sci · 2009
0.80
4
FHIT gene abnormalities in both benign and malignant thyroid tumours.
PMID: 10448301
Eur J Cancer · 1999
0.72
5
FHIT: from gene discovery to cancer treatment and prevention.
PMID: 12473516
Lancet Oncol · 2002
0.70