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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GTF2H3
general transcription factor IIH subunit 3
Chromosome 12 · 12q24.31
NCBI Gene: 2967Ensembl: ENSG00000111358.14HGNC: HGNC:4657UniProt: A0A087WYD5
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA polymerase II general transcription initiation factor activitynucleusnucleoplasmHIV infectionalcohol drinkingneurodegenerative diseaseleukoencephalopathy with vanishing white matter
✦AI Summary

GTF2H3 is a core component of the TFIIH complex, which functions in two critical cellular processes: general and transcription-coupled nucleotide excision repair (NER) of damaged DNA, and RNA transcription by RNA polymerase II. In NER, TFIIH opens DNA around lesions to facilitate excision of damaged oligonucleotides and replacement with new DNA fragments 1. In transcription, GTF2H3 plays an essential role in transcription initiation by enabling promoter opening and promoter escape when the pre-initiation complex is established. GTF2H3 dysfunction is implicated in multiple pathological contexts. A homozygous GTF2H3 mutation (p.Ser222Pro) was identified in consanguineous brothers with nonobstructive azoospermia, suggesting its role in spermatogenesis through vitamin A signaling 2. Genetic variants in GTF2H3 are associated with increased risk of esophageal squamous cell carcinoma in Chinese populations 3. Additionally, GTF2H3 downregulation contributes to anticancer effects in triple-negative breast cancer through suppression of NER pathways 1. GTF2H3 appears dysregulated in advanced Parkinson's disease through miRNA-mediated mechanisms 4 and in leukemic cells with altered Gfi-1B signaling 5. These findings position GTF2H3 as a multifunctional regulator with implications for cancer, neurodegeneration, and male infertility.

Sources cited
1
GTF2H3 is involved in nucleotide excision repair (NER) pathway and its downregulation suppresses TNBC cell growth
PMID: 40961586
2
Homozygous GTF2H3 mutation (p.Ser222Pro) causes nonobstructive azoospermia in consanguineous brothers, implicating role in spermatogenesis
PMID: 29966603
3
GTF2H3 genetic variants are significantly associated with esophageal squamous cell carcinoma risk
PMID: 23504502
4
GTF2H3 is downregulated in advanced Parkinson's disease through miR-369-3p regulation
PMID: 35090094
5
GTF2H3 is downregulated in cells with altered Gfi-1B signaling in leukemic cells
PMID: 18224412
6
GTF2H3 is upregulated in ATRA-resistant leukemia cells and involved in DNA repair pathways
PMID: 24993014
Disease Associationsⓘ20
HIV infectionOpen Targets
0.59Moderate
alcohol drinkingOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.18Weak
CACH syndromeOpen Targets
0.16Weak
leukoencephalopathy with vanishing white matterOpen Targets
0.16Weak
Familial progressive cardiac conduction defectOpen Targets
0.07Suggestive
Brugada syndromeOpen Targets
0.07Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
familial atrial fibrillationOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Familial short QT syndromeOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
dilated cardiomyopathyOpen Targets
0.05Suggestive
deafnessOpen Targets
0.05Suggestive
sinoatrial node dysfunction and deafnessOpen Targets
0.05Suggestive
bundle branch blockOpen Targets
0.05Suggestive
progressive familial heart block, type 1AOpen Targets
0.05Suggestive
Jervell and Lange-Nielsen syndrome 1Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCNT1Protein interaction100%CCNT2Protein interaction100%POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
92%
Bone Marrow
87%
Liver
77%
Ovary
66%
Lung
53%
Gene Interaction Network
Click a node to explore
GTF2H3CCNT1CCNT2POLR2BPOLR2LPOLR2KPOLR2E
PROTEIN STRUCTURE
Preparing viewer…
PDB7EGB · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.58–1.30]
RankingsWhere GTF2H3 stands among ~20K protein-coding genes
  • #5,541of 20,598
    Most Researched86
  • #13,693of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedGTF2H3
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Identification of the shared gene signatures and pathways between polycystic ovary syndrome and endometrial cancer: An omics data based combined approach.
PMID: 35830453
PLoS One · 2022
1.00
2
Multi-omic landscaping of human midbrains identifies disease-relevant molecular targets and pathways in advanced-stage Parkinson's disease.
PMID: 35090094
Clin Transl Med · 2022
0.88
3
Design, synthesis and biological evaluation of magnolol-sulforaphane hybrid analogues as potential therapeutics of triple-negative breast cancer.
PMID: 40961586
Eur J Med Chem · 2025
0.75
4
Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure.
PMID: 29966603
Urology · 2018
0.63
5
Gene profiling of growth factor independence 1B gene (Gfi-1B) in leukemic cells.
PMID: 18224412
Int J Hematol · 2008
0.50