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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GTF2H1
general transcription factor IIH subunit 1
Chromosome 11 · 11p15.1
NCBI Gene: 2965Ensembl: ENSG00000110768.13HGNC: HGNC:4655UniProt: A0A384MTQ8
171PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear thyroid hormone receptor bindingtranscription factor TFIIH core complextranscription factor TFIIH holo complexprotein bindingHIV infectionneurodegenerative diseasehair colorAlzheimer disease
✦AI Summary

GTF2H1 encodes a core subunit of the general transcription factor IIH (TFIIH) complex, which plays dual roles in RNA polymerase II transcription initiation and nucleotide excision repair (NER) of DNA damage 1. The protein functions by promoting promoter opening and escape during transcription initiation, while in DNA repair, TFIIH opens DNA around lesions to facilitate damaged oligonucleotide excision and replacement 1. GTF2H1 expression is regulated by SWI/SNF chr11 remodeling complexes, and its downregulation compromises TFIIH stability and function in both transcription and NER 1. Disease relevance includes significant associations with lung cancer susceptibility through genetic polymorphisms. Multiple studies demonstrate that GTF2H1 variants affect lung cancer risk in Chinese populations, with specific SNPs showing both protective and risk-associated effects 23. Functional regulatory variants in GTF2H1 promoter regions that decrease transcriptional activity are associated with increased non-small cell lung cancer risk 4. The clinical significance extends to potential therapeutic targeting, as GTF2H1 levels may serve as predictive markers for platinum drug sensitivity in SWI/SNF-deficient cancer cells, given the interconnection between TFIIH function and DNA repair capacity 1.

Sources cited
1
GTF2H1 is regulated by SWI/SNF complexes and functions in TFIIH complex for transcription and DNA repair
PMID: 30287812
2
GTF2H1 polymorphisms are associated with lung cancer risk in Chinese Han population
PMID: 36384536
3
GTF2H1 genetic variants affect lung cancer susceptibility and transcriptional activation
PMID: 18692935
4
Functional regulatory variants in GTF2H1 promoter contribute to non-small cell lung cancer risk
PMID: 39631147
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
HIV infectionOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.19Weak
hair colorOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.14Weak
neoplasmOpen Targets
0.12Weak
Abnormal sperm morphologyOpen Targets
0.12Weak
oligospermiaOpen Targets
0.12Weak
Reduced sperm motilityOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.10Weak
Back painOpen Targets
0.10Weak
amyotrophic lateral sclerosisOpen Targets
0.10Weak
glioblastoma multiformeOpen Targets
0.10Weak
head and neck squamous cell carcinomaOpen Targets
0.10Weak
inclusion body myositisOpen Targets
0.10Suggestive
ovarian cancerOpen Targets
0.10Suggestive
infectionOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCNT1Protein interaction100%CCNT2Protein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2DProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
89%
Lung
75%
Liver
74%
Brain
71%
Bone Marrow
56%
Gene Interaction Network
Click a node to explore
GTF2H1CCNT1CCNT2POLR2LPOLR2KPOLR2EPOLR2D
PROTEIN STRUCTURE
Preparing viewer…
PDB7EGB · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.20 [0.10–0.42]
RankingsWhere GTF2H1 stands among ~20K protein-coding genes
  • #2,577of 20,598
    Most Researched171 · top quartile
  • #2,177of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedGTF2H1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Phosphorylation of ULK1 (hATG1) by AMP-activated protein kinase connects energy sensing to mitophagy.
PMID: 21205641
Science · 2011
1.00
2
CHIP ameliorates nonalcoholic fatty liver disease via promoting K63- and K27-linked STX17 ubiquitination to facilitate autophagosome-lysosome fusion.
PMID: 39353976
Nat Commun · 2024
0.90
3
Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
PMID: 36384536
BMC Cancer · 2022
0.80
4
DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1.
PMID: 30287812
Nat Commun · 2018
0.70
5
A comprehensive identification of potential molecular targets and small drugs candidate for melanoma cancer using bioinformatics and network-based screening approach.
PMID: 37534476
J Biomol Struct Dyn · 2024
0.64