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18 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GTF2B
general transcription factor IIB
Chromosome 1 · 1p22.2
NCBI Gene: 2959Ensembl: ENSG00000137947.13HGNC: HGNC:4648UniProt: Q00403
199PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II core promoter sequence-specific DNA bindingRNA polymerase II complex bindingtranscription by RNA polymerase IItranscription initiation at RNA polymerase II promoterHIV infectionhypertensionessential hypertensioninsomnia
✦AI Summary

GTF2B (general transcription factor IIB) is a fundamental component of the RNA polymerase II transcriptional machinery that plays essential roles in transcription initiation and regulation. As a core transcription factor, GTF2B functions in pre-initiation complex formation and RNA polymerase II recruitment at promoter regions, forming a critical bridge between TATA-binding protein (TBP) and the polymerase complex 1. The protein binds to specific DNA recognition elements (BRE sequences) both upstream and downstream of TATA boxes in a TBP-independent manner and modulates transcription start site selection 1. Beyond its general transcriptional role, GTF2B exhibits regulatory functions in specific cellular contexts. In growth hormone-secreting pituitary adenomas, GTF2B transcriptionally regulates AIP (aryl hydrocarbon receptor-interacting protein) expression, influencing tumor aggressiveness and phenotypes 1. GTF2B also responds to cellular stress conditions, with its expression being modulated under hypoxic conditions in glioma cells 2. Recent studies have implicated GTF2B in various pathological processes, including its identification as a potential biomarker in hepatic ischemia-reperfusion injury 3, lupus nephritis with monkeypox infection 4, and age-related multimorbidity 5. Additionally, GTF2B has been identified as a tumor-associated antigen with diagnostic potential in colorectal cancer screening 6.

Sources cited
1
GTF2B regulates AIP protein expression in growth hormone-secreting pituitary adenomas and functions as a transcription factor forming bridges between TBP and RNA polymerase II complex
PMID: 34932801
2
GTF2B expression is modulated under hypoxic conditions in glioma cells
PMID: 29235836
3
GTF2B is identified as a differentially expressed cuproptosis-related gene in hepatic ischemia-reperfusion injury
PMID: 38935114
4
GTF2B serves as a critical biomarker in lupus nephritis with monkeypox virus infection
PMID: 40253531
5
GTF2B is identified as a high-confidence gene with putative causal roles in age-related multimorbidity
PMID: 41405793
6
GTF2B functions as a tumor-associated antigen with diagnostic value for colorectal cancer detection
PMID: 26915739
Disease Associationsⓘ20
HIV infectionOpen Targets
0.58Moderate
hypertensionOpen Targets
0.42Moderate
essential hypertensionOpen Targets
0.32Weak
insomniaOpen Targets
0.32Weak
corneal ulcerOpen Targets
0.32Weak
goutOpen Targets
0.29Weak
Abnormality of the gastrointestinal tractOpen Targets
0.27Weak
infectious diseaseOpen Targets
0.24Weak
cardiovascular diseaseOpen Targets
0.13Weak
Increased blood pressureOpen Targets
0.10Weak
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
self-injurious ideationOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.04Suggestive
malignant colon neoplasmOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DR1Protein interaction100%POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2HProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
36%
Brain
36%
Liver
35%
Lung
34%
Heart
25%
Gene Interaction Network
Click a node to explore
GTF2BDR1POLR2BPOLR2LPOLR2KPOLR2EPOLR2H
PROTEIN STRUCTURE
Preparing viewer…
PDB7NVU · 2.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.55 [0.36–0.88]
RankingsWhere GTF2B stands among ~20K protein-coding genes
  • #2,123of 20,598
    Most Researched199 · top quartile
  • #7,739of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedGTF2B
Sources retrieved18 papers
Response time—
📄 Sources
18▼
1
Trophoblast Cell Subtypes and Dysfunction in the Placenta of Individuals with Preeclampsia Revealed by Single‑Cell RNA Sequencing.
PMID: 35289305
Mol Cells · 2022
1.00
2
Comprehensive analysis of cuproptosis-related genes involved in immune infiltration and their use in the diagnosis of hepatic ischemia-reperfusion injury: an experimental study.
PMID: 38935114
Int J Surg · 2025
0.90
3
Integrative bioinformatics analysis reveals STAT1, ORC2, and GTF2B as critical biomarkers in lupus nephritis with Monkeypox virus infection.
PMID: 40253531
Sci Rep · 2025
0.80
4
Genetic links between multimorbidity and human aging.
PMID: 41405793
Geroscience · 2025
0.70
5
Transcription factor GTF2B regulates AIP protein expression in growth hormone-secreting pituitary adenomas and influences tumor phenotypes.
PMID: 34932801
Neuro Oncol · 2022
0.60