FHIT Gene (Protein Coding)

Fragile Histidine Triad Diadenosine Triphosphatase

GC03M059747
GIFtS:
44
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 colo... See more...

Aliases for FHIT Gene

Aliases for FHIT Gene

  • Fragile Histidine Triad Diadenosine Triphosphatase 2 3 5
  • Bis(5'-Adenosyl)-Triphosphatase 2 3 4
  • AP3Aase 2 3 4
  • Diadenosine 5',5'''-P1,P3-Triphosphate Hydrolase 3 4
  • Dinucleosidetriphosphatase 3 4
  • AP3A Hydrolase 3 4
  • FRA3B 2 3
  • Fragile Histidine Triad Protein 4
  • Fragile Histidine Triad Gene 2
  • Fragile Histidine Triad 2
  • EC 3.6.1.29 4
  • FHIT 5

External Ids for FHIT Gene

Previous GeneCards Identifiers for FHIT Gene

  • GC03M058591
  • GC03M059076
  • GC03M059592
  • GC03U900473
  • GC03M059692
  • GC03M059712

Summaries for FHIT Gene

Entrez Gene Summary for FHIT Gene

  • 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]

GeneCards Summary for FHIT Gene

FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a Protein Coding gene. Diseases associated with FHIT include Renal Cell Carcinoma, Nonpapillary and Sporadic Breast Cancer. Among its related pathways are Small cell lung cancer and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is HINT1.

UniProtKB/Swiss-Prot Summary for FHIT Gene

  • Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor.

Gene Wiki entry for FHIT Gene

Additional gene information for FHIT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FHIT Gene

Genomics for FHIT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FHIT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03J061249 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.2 -0.3 -256 4.3 SP1 HNRNPL CREB1 GATAD2A PRDM10 TFE3 ZNF512 RFX1 SIX5 IKZF1 FHIT lnc-PTPRG-1 lnc-FEZF2-9 RPL10AP6 piR-61240-174 PTPRG
GH03J061196 Promoter 0.4 EPDnew 600.2 +55.4 55357 0.1 CEBPB FHIT piR-58308-208 lnc-FEZF2-9 RF00017-4031
GH03J061221 Enhancer 0.4 Ensembl 16.3 +29.3 29260 1.2 POLR2A SP1 HNF4A RXRA FHIT piR-58308-209 lnc-FEZF2-9
GH03J061008 Enhancer 0.6 Ensembl ENCODE 9.6 +243.0 242960 3 USF1 SPI1 POLR2A MAX USF2 RAD51 FHIT LOC105377111 piR-38352-374 lnc-FEZF2-9
GH03J060756 Enhancer 0.7 Ensembl ENCODE 9.3 +492.3 492260 6 MNT RUNX3 SPI1 ZNF366 POLR2A MAX POU5F1 FHIT piR-61808-002 PPIAP71 lnc-FEZF2-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FHIT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FHIT

Top Transcription factor binding sites by QIAGEN in the FHIT gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • Sp1

Genomic Locations for FHIT Gene

Genomic Locations for FHIT Gene
chr3:59,747,277-61,251,461
(GRCh38/hg38)
Size:
1,504,185 bases
Orientation:
Minus strand
chr3:59,735,036-61,237,133
(GRCh37/hg19)
Size:
1,502,098 bases
Orientation:
Minus strand

Genomic View for FHIT Gene

Genes around FHIT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FHIT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FHIT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FHIT Gene

Proteins for FHIT Gene

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  • Protein details for FHIT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49789-FHIT_HUMAN
    Recommended name:
    Bis(5'-adenosyl)-triphosphatase
    Protein Accession:
    P49789
    Secondary Accessions:
    • A2IAS9
    • A2IAT0
    • A2IAT6
    • A8K1A9
    • Q45QG9
    • Q6IU12

    Protein attributes for FHIT Gene

    Size:
    147 amino acids
    Molecular mass:
    16858 Da
    Quaternary structure:
    • Homodimer. Interacts with UBE2I. Interacts with MDM2. Interacts with CTNNB1. Identified in a complex with CTNNB1 and LEF1.

    Three dimensional structures from OCA and Proteopedia for FHIT Gene

neXtProt entry for FHIT Gene

Protein Expression for FHIT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FHIT Gene

  • Phosphorylation at Tyr-114 by SRC is required for induction of apoptosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FHIT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FHIT Gene

Domains & Families for FHIT Gene

Gene Families for FHIT Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FHIT Gene

InterPro:
Blocks:
  • Histidine triad (HIT) protein
ProtoNet:

Suggested Antigen Peptide Sequences for FHIT Gene

GenScript: Design optimal peptide antigens:
  • FHIT (A2IAS9_HUMAN)
  • Truncated FHIT (A2IAT0_HUMAN)
  • Fragile histidine triad protein (A2IAT6_HUMAN)
  • Fragile histidine triad protein (FHIT_HUMAN)
  • Diadenosine triphosphate hydrolase (O00298_HUMAN)
genes like me logo Genes that share domains with FHIT: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FHIT Gene

Function for FHIT Gene

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Molecular function for FHIT Gene

UniProtKB/Swiss-Prot Function:
Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5. Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways. Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis. Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake. Functions as tumor suppressor.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + P(1),P(3)-bis(5'-adenosyl) triphosphate = ADP + AMP + 2 H(+); Xref=Rhea:RHEA:13893, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58529, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=3.6.1.29; Evidence={ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15182206, ECO:0000269|PubMed:8794732, ECO:0000269|PubMed:9323207, ECO:0000269|PubMed:9576908};.
GENATLAS Biochemistry:
fragile histidine triad gene member of a superfamily HIT of nucleotide binding proteins,dinucleoside 5',5''' - P1,P3 - triphosphate Ap3A hydrolase,producing multiple transcripts in normal cell lines,non tumor specific,telomeric to PTPRG,encompassing the t(3;8) breakpoint in RCC1 and FRA3B,commonly but inconstantly involved in deletions in cancer cell-lines and in lung,pancreatic (RER+),stomach,kidney,cervical carcinomas and sporadic breast cancer of poor prognosis or in an advanced stage,maybe a tumor suppressor gene in relation to induction of apoptosis and cell cycle alteration and by interacting with microtubules and tubulin (see TSG3C)

Enzyme Numbers (IUBMB) for FHIT Gene

Phenotypes From GWAS Catalog for FHIT Gene

Gene Ontology (GO) - Molecular Function for FHIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA,TAS 8598045
GO:0005515 protein binding IPI 18077326
GO:0016787 hydrolase activity IEA,IDA 8794732
GO:0031625 ubiquitin protein ligase binding IPI 15313915
genes like me logo Genes that share ontologies with FHIT: view
genes like me logo Genes that share phenotypes with FHIT: view

Animal Models for FHIT Gene

MGI Knock Outs for FHIT:

Animal Model Products

CRISPR Products

miRNA for FHIT Gene

miRTarBase miRNAs that target FHIT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FHIT

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FHIT Gene

Localization for FHIT Gene

Subcellular locations from UniProtKB/Swiss-Prot for FHIT Gene

Cytoplasm. Mitochondrion. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FHIT gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FHIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IEA,IDA 15007172
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA 15313915
genes like me logo Genes that share ontologies with FHIT: view

Pathways & Interactions for FHIT Gene

genes like me logo Genes that share pathways with FHIT: view

Pathways by source for FHIT Gene

SIGNOR curated interactions for FHIT Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for FHIT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006163 purine nucleotide metabolic process IDA 9323207
GO:0006915 apoptotic process IEA --
GO:0009117 nucleotide metabolic process TAS 8794732
GO:0015964 diadenosine triphosphate catabolic process IBA 21873635
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP 15313915
genes like me logo Genes that share ontologies with FHIT: view

Drugs & Compounds for FHIT Gene

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(30) Drugs for FHIT Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Interferon beta-1a Approved, Investigational Pharma 221
Interferon beta-1b Approved Pharma 95
Cobalt Approved, Experimental Pharma 200
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0

(20) Additional Compounds for FHIT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
diadenosine triphosphate
  • Adenosine (5')triphospho(5')adenosine
  • Adenosine 5'-triphosphate 5'-adenosine
  • Adenosine(3)triphosphate adenosine
  • Adenosine(5')triphospho(5')adenosine
  • Bis(adenosine)-5'-triphosphate
 56432-02-1
Ganglioside GM3 (d18:1/25:0)
  • (N-Acetylneuraminyl)-D-galactosyl-D-glucosylceramide
  • (N-Acetylneuraminyl)-delta-galactosyl-delta-glucosylceramide
  • alpha-N-Acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide
  • alpha-N-Acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-delta-glucosylceramide
  • Ganglioside GM3
genes like me logo Genes that share compounds with FHIT: view

Transcripts for FHIT Gene

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mRNA/cDNA for FHIT Gene

7 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FHIT

Alternative Splicing Database (ASD) splice patterns (SP) for FHIT Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for FHIT Gene

GeneLoc Exon Structure for
FHIT

Expression for FHIT Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FHIT Gene

mRNA expression in normal human tissues for FHIT Gene
mRNA expression by BioGPS for FHIT GenemRNA expression by GTEx for FHIT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FHIT Gene

This gene is overexpressed in Salivary gland (10.8) and Skin (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FHIT Gene



Protein tissue co-expression partners for FHIT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FHIT

SOURCE GeneReport for Unigene cluster for FHIT Gene:

Hs.655995

mRNA Expression by UniProt/SwissProt for FHIT Gene:

P49789-FHIT_HUMAN
Tissue specificity: Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines.

Evidence on tissue expression from TISSUES for FHIT Gene

  • Nervous system(4.5)
  • Intestine(4.5)
  • Skin(2.8)
  • Lymph node(2.7)
  • Blood(2.6)
  • Kidney(2.6)
  • Thyroid gland(2.5)
  • Lung(2.5)
  • Stomach(2.5)
  • Gall bladder(2.4)
  • Muscle(2.3)
  • Liver(2.2)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FHIT Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with FHIT: view

No data available for mRNA differential expression in normal tissues for FHIT Gene

Orthologs for FHIT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FHIT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FHIT 30 31
  • 98.64 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FHIT 30 31
  • 90.25 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Fhit 30 17 31
  • 87.07 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FHIT 30 31
  • 87.07 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fhit 30
  • 84.58 (n)
Oppossum
(Monodelphis domestica)
 Mammalia FHIT 31
  • 61 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FHIT 31
  • 57 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FHIT 30 31
  • 75.63 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FHIT 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fhit 30
  • 68.95 (n)
Zebrafish
(Danio rerio)
 Actinopterygii fhit 30 31 31
  • 69.89 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAL053C 30
  • 49.87 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C10142g 30
  • 49.86 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HNT2 30 31 33
  • 48.56 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons FHIT 30
  • 58.74 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0120600 30
  • 56.21 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes aph1 30
  • 51.07 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 48 (a)
 OneToOne
Species where no ortholog for FHIT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FHIT Gene

ENSEMBL:
Gene Tree for FHIT (if available)
TreeFam:
Gene Tree for FHIT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FHIT: view image

Paralogs for FHIT Gene

Paralogs for FHIT Gene

genes like me logo Genes that share paralogs with FHIT: view

Variants for FHIT Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FHIT Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708320 Benign: not provided 60,536,957(-) C/A SYNONYMOUS_VARIANT
721413 Likely Benign: not provided 59,752,244(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
741725 Likely Benign: not provided 60,536,894(-) G/A SYNONYMOUS_VARIANT
rs11130760 Association: Lip and oral cavity carcinoma 60,210,809(-) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for FHIT Gene

Structural Variations from Database of Genomic Variants (DGV) for FHIT Gene

Variant ID Type Subtype PubMed ID
dgv1378e212 CNV loss 25503493
dgv1379e212 CNV loss 25503493
dgv1380e212 CNV loss 25503493
dgv178e55 CNV loss 17911159
dgv179e55 CNV loss 17911159
dgv2527n106 CNV tandem duplication 24896259
dgv287n21 CNV loss 19592680
dgv4749n100 CNV gain 25217958
dgv4750n100 CNV loss 25217958
dgv4751n100 CNV loss 25217958
dgv4752n100 CNV loss 25217958
dgv4753n100 CNV gain 25217958
dgv4754n100 CNV gain 25217958
dgv8340n54 CNV gain 21841781
dgv8341n54 CNV loss 21841781
dgv8342n54 CNV loss 21841781
dgv8343n54 CNV loss 21841781
dgv8344n54 CNV loss 21841781
dgv8345n54 CNV loss 21841781
dgv8346n54 CNV loss 21841781
dgv8347n54 CNV loss 21841781
dgv893e214 CNV loss 21293372
dgv894e214 CNV loss 21293372
esv1004832 CNV deletion 20482838
esv1142763 CNV insertion 17803354
esv1172588 CNV insertion 17803354
esv1665801 CNV insertion 17803354
esv1753481 CNV insertion 17803354
esv1998826 CNV deletion 18987734
esv22405 CNV loss 19812545
esv2422232 CNV deletion 17116639
esv24503 CNV loss 19812545
esv2485847 CNV insertion 19546169
esv25096 CNV loss 19812545
esv2510521 CNV insertion 19546169
esv2622202 CNV deletion 19546169
esv2658190 CNV deletion 23128226
esv2659079 CNV deletion 23128226
esv2659090 CNV deletion 23128226
esv2662326 CNV deletion 23128226
esv2662758 CNV deletion 23128226
esv2665389 CNV deletion 23128226
esv2666531 CNV deletion 23128226
esv2667468 CNV deletion 23128226
esv2671216 CNV deletion 23128226
esv2672128 CNV deletion 23128226
esv2673174 CNV deletion 23128226
esv2676628 CNV deletion 23128226
esv2677166 CNV deletion 23128226
esv2725321 CNV deletion 23290073
esv2725322 CNV deletion 23290073
esv2725323 CNV deletion 23290073
esv2725324 CNV deletion 23290073
esv2725325 CNV deletion 23290073
esv2725326 CNV deletion 23290073
esv2725327 CNV deletion 23290073
esv2725328 CNV deletion 23290073
esv2725330 CNV deletion 23290073
esv2725331 CNV deletion 23290073
esv2725332 CNV deletion 23290073
esv275190 CNV gain+loss 21479260
esv2752012 CNV gain 17911159
esv2759151 CNV loss 17122850
esv2759152 CNV gain+loss 17122850
esv2760770 CNV loss 21179565
esv2762330 CNV loss 21179565
esv2763271 CNV gain 21179565
esv2763272 CNV loss 21179565
esv2763273 CNV loss 21179565
esv2763751 CNV loss 21179565
esv3303072 CNV tandem duplication 20981092
esv3303411 CNV mobile element insertion 20981092
esv3304234 CNV mobile element insertion 20981092
esv3306444 CNV mobile element insertion 20981092
esv3307537 CNV mobile element insertion 20981092
esv3348416 CNV insertion 20981092
esv3348935 CNV insertion 20981092
esv3351052 CNV insertion 20981092
esv3351086 CNV insertion 20981092
esv3426110 CNV insertion 20981092
esv34680 CNV loss 17911159
esv3561952 CNV deletion 23714750
esv3561957 CNV deletion 23714750
esv3561964 CNV deletion 23714750
esv3568769 CNV loss 25503493
esv3568770 CNV loss 25503493
esv3568771 CNV loss 25503493
esv3568772 CNV loss 25503493
esv3568773 CNV loss 25503493
esv3568774 CNV loss 25503493
esv3568776 CNV loss 25503493
esv3568777 CNV loss 25503493
esv3568778 CNV loss 25503493
esv3568779 CNV loss 25503493
esv3568783 CNV loss 25503493
esv3568784 CNV loss 25503493
esv3568785 CNV loss 25503493
esv3568791 CNV loss 25503493
esv3568792 CNV loss 25503493
esv3568793 CNV loss 25503493
esv3568794 CNV loss 25503493
esv3568795 CNV loss 25503493
esv3596288 CNV loss 21293372
esv3596289 CNV loss 21293372
esv3596290 CNV loss 21293372
esv3596291 CNV loss 21293372
esv3596292 CNV loss 21293372
esv3596293 CNV loss 21293372
esv3596295 CNV loss 21293372
esv3596296 CNV gain 21293372
esv3596297 CNV loss 21293372
esv3596298 CNV loss 21293372
esv3596299 CNV loss 21293372
esv3596301 CNV loss 21293372
esv3596302 CNV loss 21293372
esv3596303 CNV loss 21293372
esv3596304 CNV loss 21293372
esv3596305 CNV loss 21293372
esv3596306 CNV loss 21293372
esv3596307 CNV loss 21293372
esv3596309 CNV loss 21293372
esv3596311 CNV loss 21293372
esv3596312 CNV loss 21293372
esv3596313 CNV loss 21293372
esv3596315 CNV loss 21293372
esv3596316 CNV gain 21293372
esv3596317 CNV loss 21293372
esv3596318 CNV loss 21293372
esv3596319 CNV loss 21293372
esv3596320 CNV loss 21293372
esv3596321 CNV loss 21293372
esv3596324 CNV loss 21293372
esv3596327 CNV loss 21293372
esv3596330 CNV loss 21293372
esv3596331 CNV gain 21293372
esv3596332 CNV loss 21293372
esv3596333 CNV loss 21293372
esv3596334 CNV gain 21293372
esv3596335 CNV loss 21293372
esv3893703 CNV loss 25118596
esv3893704 CNV loss 25118596
esv3893705 CNV loss 25118596
esv3893706 CNV loss 25118596
esv3893707 CNV loss 25118596
esv3893708 CNV loss 25118596
esv3893709 CNV loss 25118596
esv3893710 CNV loss 25118596
esv3893711 CNV gain 25118596
esv9455 CNV gain 19470904
esv995728 CNV deletion 20482838
nsv1000644 CNV loss 25217958
nsv1001005 CNV loss 25217958
nsv1001134 CNV loss 25217958
nsv1001270 CNV loss 25217958
nsv1002104 CNV loss 25217958
nsv1003387 CNV gain 25217958
nsv1005085 CNV loss 25217958
nsv1007187 CNV loss 25217958
nsv1007432 CNV loss 25217958
nsv1007745 CNV loss 25217958
nsv1008250 CNV loss 25217958
nsv1010945 CNV loss 25217958
nsv1012600 CNV gain 25217958
nsv1012953 CNV loss 25217958
nsv1014064 CNV loss 25217958
nsv1014601 CNV loss 25217958
nsv1014983 CNV gain 25217958
nsv10275 CNV loss 18304495
nsv10276 CNV gain 18304495
nsv1074598 CNV deletion 25765185
nsv1114383 CNV deletion 24896259
nsv1116994 CNV deletion 24896259
nsv1120137 OTHER inversion 24896259
nsv1120455 CNV tandem duplication 24896259
nsv1123657 CNV deletion 24896259
nsv1131704 CNV deletion 24896259
nsv1136729 CNV deletion 24896259
nsv1136730 CNV deletion 24896259
nsv1136731 CNV deletion 24896259
nsv1139120 CNV deletion 24896259
nsv1142359 CNV tandem duplication 24896259
nsv1143052 CNV tandem duplication 24896259
nsv3842 CNV insertion 18451855
nsv3844 CNV insertion 18451855
nsv3845 CNV insertion 18451855
nsv3846 CNV deletion 18451855
nsv437724 CNV loss 16327808
nsv437861 CNV loss 16468122
nsv460563 CNV gain 19166990
nsv460564 CNV loss 19166990
nsv460565 CNV loss 19166990
nsv460569 CNV gain 19166990
nsv460570 CNV loss 19166990
nsv460573 CNV loss 19166990
nsv460574 CNV loss 19166990
nsv470616 CNV loss 18288195
nsv478035 CNV novel sequence insertion 20440878
nsv507096 OTHER sequence alteration 20534489
nsv507097 OTHER sequence alteration 20534489
nsv517248 CNV loss 19592680
nsv518490 CNV loss 19592680
nsv519353 CNV loss 19592680
nsv519729 CNV loss 19592680
nsv519855 CNV loss 19592680
nsv520224 CNV loss 19592680
nsv520671 CNV loss 19592680
nsv522508 CNV loss 19592680
nsv524767 CNV loss 19592680
nsv526066 CNV loss 19592680
nsv527725 CNV loss 19592680
nsv528597 CNV loss 19592680
nsv590382 CNV loss 21841781
nsv590384 CNV loss 21841781
nsv590385 CNV loss 21841781
nsv590386 CNV loss 21841781
nsv590387 CNV gain 21841781
nsv590388 CNV loss 21841781
nsv590389 CNV loss 21841781
nsv590392 CNV gain 21841781
nsv590393 CNV loss 21841781
nsv590394 CNV loss 21841781
nsv590399 CNV gain 21841781
nsv590400 CNV loss 21841781
nsv590401 CNV loss 21841781
nsv590402 CNV loss 21841781
nsv590405 CNV loss 21841781
nsv590406 CNV loss 21841781
nsv590407 CNV loss 21841781
nsv590408 CNV loss 21841781
nsv590409 CNV loss 21841781
nsv590410 CNV loss 21841781
nsv590411 CNV loss 21841781
nsv590414 CNV loss 21841781
nsv590419 CNV loss 21841781
nsv590425 CNV gain 21841781
nsv818143 CNV loss 17921354
nsv834706 CNV gain 17160897
nsv834707 CNV gain 17160897
nsv834708 CNV loss 17160897
nsv834709 CNV gain 17160897
nsv834710 CNV gain 17160897
nsv965171 CNV duplication 23825009
nsv967017 CNV duplication 23825009
nsv997531 CNV loss 25217958
nsv997718 CNV loss 25217958
nsv998548 CNV gain 25217958
nsv998863 CNV loss 25217958
nsv999663 CNV loss 25217958
nsv999794 CNV loss 25217958
nsv999828 CNV loss 25217958

Variation tolerance for FHIT Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FHIT Gene

Human Gene Mutation Database (HGMD)
FHIT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FHIT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FHIT Gene

Disorders for FHIT Gene

MalaCards: The human disease database

(50) MalaCards diseases for FHIT Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FHIT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FHIT_HUMAN
  • Note=A chromosomal aberration involving FHIT has been found in a lymphoblastoid cell line established from a family with renal cell carcinoma and thyroid carcinoma. Translocation t(3;8)(p14.2;q24.1) with RNF139. Although the 3p14.2 breakpoint has been shown to interrupt FHIT in its 5-prime non-coding region, it is unlikely that FHIT is causally related to renal or other malignancies. {ECO:0000269 PubMed:15007172}.
  • Note=Associated with digestive tract cancers. Numerous tumor types are found to have aberrant forms of FHIT protein due to deletions in a coding region of chromosome 3p14.2 including the fragile site locus FRA3B. {ECO:0000269 PubMed:15007172}.

Additional Disease Information for FHIT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FHIT: view

No data available for Genatlas for FHIT Gene

Publications for FHIT Gene

  1. Gene mutations in esophageal mucosa of chagas disease patients. (PMID: 19414370) DA Silva Manoel-Caetano F … Silva AE (Anticancer research 2009) 3 23 41
  2. The tumor suppressor Fhit acts as a repressor of beta-catenin transcriptional activity. (PMID: 18077326) Weiske J … Huber O (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23
  3. Fhit modulation of the Akt-survivin pathway in lung cancer cells: Fhit-tyrosine 114 (Y114) is essential. (PMID: 16407838) Semba S … Huebner K (Oncogene 2006) 3 4 23
  4. The mechanism of action of the fragile histidine triad, Fhit: isolation of a covalent adenylyl enzyme and chemical rescue of H96G-Fhit. (PMID: 15182206) Huang K … Frey PA (Biochemistry 2004) 3 4 23
  5. Synergistic tumor suppression by coexpression of FHIT and p53 coincides with FHIT-mediated MDM2 inactivation and p53 stabilization in human non-small cell lung cancer cells. (PMID: 15313915) Nishizaki M … Ji L (Cancer research 2004) 3 4 23

ExternalLinks

View latest publications for FHIT gene in Mastermind

Products for FHIT Gene

  • Addgene plasmids for FHIT

Sources for FHIT Gene