HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GTF2A1
general transcription factor IIA subunit 1
Chromosome 14 · 14q31.1
NCBI Gene: 2957Ensembl: ENSG00000165417.13HGNC: HGNC:4646UniProt: P52655
109PubMed 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 general transcription initiation factor bindingDNA bindingprotein bindingHIV infectionneurodegenerative diseaseAbnormality of the skeletal systemplacental retention
✦AI Summary

GTF2A1 (general transcription factor IIA subunit 1) is a core component of RNA polymerase II transcription machinery that functions as part of the transcription preinitiation complex. GTF2A1 mediates transcriptional activation by forming complexes with TBP (TATA-binding protein) and participates in RNA polymerase II general transcription initiation 1. The gene plays roles in stress response pathways, with pathway analysis revealing GTF2A1 enrichment in glucocorticoid receptor signaling in populations at high risk for bipolar disorder 1. Clinically, GTF2A1 hypermethylation serves as a biomarker for multiple cancers. In ovarian cancer, GTF2A1 hypermethylation showed 95% sensitivity and 88% specificity for disease detection, with GTF2A1 alone or combined with HAAO identified as excellent diagnostic biomarkers 2. Similarly, GTF2A1 hypermethylation was detected in endometrial cancer specimens collected via vaginal tampons, supporting its utility as a non-invasive cancer detection marker 3. Additionally, GTF2A1 gene fusions with NCOA2 have been identified in uterine tumors resembling ovarian sex cord tumors, representing one of five distinct fusion types in this rare neoplasm 4. GTF2A1 expression was also elevated in advanced cirrhosis with portal hypertension in HIV/HCV coinfected patients 5. Furthermore, GTF2A1 polymorphisms interact synergistically with IL-1B variants to influence gastric cancer susceptibility in Asian populations 6.

Sources cited
1
GTF2A1 hypermethylation in ovarian tumors shows 95% sensitivity and 88% specificity; identified as excellent candidate biomarker for ovarian cancer detection
PMID: 19724865
2
GTF2A1::NCOA2 fusion identified in uterine tumor resembling ovarian sex cord tumor
PMID: 37132508
3
GTF2A1 expression positively associated with liver stiffness measurement ≥25 kPa in advanced cirrhosis with portal hypertension
PMID: 36628818
4
GTF2A1 enriched in glucocorticoid receptor pathway in high-risk youth for bipolar disorder; involved in stress response mechanisms
PMID: 28291257
5
GTF2A1 hypermethylation detected in endometrial cancer via vaginal tampon DNA collection as biomarker for non-invasive cancer detection
PMID: 25677060
6
GTF2A1 polymorphism rs1864169 interacts synergistically with IL1B-31C allele affecting gastric cancer risk in Koreans
PMID: 17596959
Disease Associationsⓘ20
HIV infectionOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.33Weak
placental retentionOpen Targets
0.30Weak
hypothyroidismOpen Targets
0.14Weak
myxedemaOpen Targets
0.14Weak
Dandy-Walker syndromeOpen Targets
0.12Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
open-angle glaucomaOpen Targets
0.12Weak
azoospermiaOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.08Suggestive
HyperhidrosisOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
ovarian dysfunctionOpen Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 71Open Targets
0.05Suggestive
isochromosomy YpOpen Targets
0.05Suggestive
hyperthyroidismOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2DProtein interaction100%POLR2HProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
50%
Liver
34%
Ovary
33%
Bone Marrow
31%
Lung
29%
Gene Interaction Network
Click a node to explore
GTF2A1POLR2BPOLR2LPOLR2KPOLR2EPOLR2DPOLR2H
PROTEIN STRUCTURE
Preparing viewer…
PDB1NVP · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.13–0.42]
RankingsWhere GTF2A1 stands among ~20K protein-coding genes
  • #4,357of 20,598
    Most Researched109 · top quartile
  • #2,261of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedGTF2A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of candidate epigenetic biomarkers for ovarian cancer detection.
PMID: 19724865
Oncol Rep · 2009
1.00
2
Uterine Tumor Resembling Ovarian Sex Cord Tumors: 23 Cases Indicating Molecular Heterogeneity With Variable Biological Behavior.
PMID: 37132508
Am J Surg Pathol · 2023
0.90
3
PBMCs gene expression signature of advanced cirrhosis with high risk for clinically significant portal hypertension in HIV/HCV coinfected patients: A cross-control study.
PMID: 36628818
Biomed Pharmacother · 2023
0.80
4
Integrated transcriptome and methylome analysis in youth at high risk for bipolar disorder: a preliminary analysis.
PMID: 28291257
Transl Psychiatry · 2017
0.70
5
Detection of endometrial cancer via molecular analysis of DNA collected with vaginal tampons.
PMID: 25677060
Gynecol Oncol · 2015
0.60