HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
8 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.
GTF2F1
general transcription factor IIF subunit 1
Chromosome 19 · 19p13.3
NCBI Gene: 2962Ensembl: ENSG00000125651.15HGNC: HGNC:4652UniProt: P35269
182PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II general transcription initiation factor bindingnegative regulation of protein bindingpositive regulation of transcription by RNA polymerase IInucleusHIV infectionneurodegenerative diseaseinfluenzaacrocephalosyndactyly
✦AI Summary

GTF2F1 encodes the RAP74 subunit of TFIIF, a general transcription initiation factor that binds RNA polymerase II and recruits it to promoters in collaboration with TFIIB 1. TFIIF functions as a heterodimer with the GTF2F2-encoded RAP30 subunit 2 and promotes both transcription initiation and elongation 3. Beyond basal transcription, GTF2F1 regulates T cell activation by promoting elongation of protein-coding genes through mTORC1-dependent mechanisms 3. In the ovary, GTF2F1 expression in germ cells is vital for primordial follicle formation by regulating JNK signaling pathways; heterozygous variants in GTF2F1 were identified in premature ovarian insufficiency (POI) patients with dosage-dependent effects on protein levels 4. GTF2F1 is also a substrate for nuclear GSK3 phosphorylation, linking mTORC1 signaling to nuclear gene expression and cell proliferation 5. Clinically, GTF2F1 appears associated with cisplatin resistance in cervical cancer and rare duplications linked to inflammatory bowel disease susceptibility, and it has been identified as a potential biomarker in bladder cancer 678. The GTF2F1 gene is located at chromosome 19.3 1.

Sources cited
1
TFIIF binds RNA polymerase II and recruits it to promoters; GTF2F1 encodes the 74-kDa RAP74 subunit; gene is located at chromosome 19p13.3
PMID: 8486367
2
GTF2F1 and GTF2F2 form the TFIIF heterodimer; single copy genes scattered across genome; evolutionary origin of transcription apparatus
PMID: 7835093
3
GTF2F1 promotes transcription elongation in T cells through mTORC1; regulates protein-coding gene expression during T cell activation
PMID: 35039641
4
GTF2F1 in germ cells vital for primordial follicle formation via JNK signaling; heterozygous variants identified in POI patients with dosage-dependent effects
PMID: 38149096
5
GTF2F1 is phosphorylated by nuclear GSK3; links mTORC1 signaling to nuclear events and cell proliferation
PMID: 31492813
6
GTF2F1 identified as differentially expressed protein in cisplatin-resistant cervical cancer
PMID: 40298920
7
GTF2F1 rare duplications associated with inflammatory bowel disease susceptibility
PMID: 31185018
8
GTF2F1 identified as potential biomarker exclusively detected in non-muscle invasive bladder cancer tumors
PMID: 41587934
Disease Associationsⓘ20
HIV infectionOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
acrocephalosyndactylyOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
influenzaOpen Targets
0.37Weak
strokeOpen Targets
0.09Suggestive
dermatomyositisOpen Targets
0.01Suggestive
mixed connective tissue diseaseOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
AstigmatismOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
paraneoplastic neurologic syndromeOpen Targets
0.00Suggestive
polyarteritis nodosaOpen Targets
0.00Suggestive
Sjogren syndromeOpen Targets
0.00Suggestive
synovial sarcomaOpen Targets
0.00Suggestive
Enterovirus infectious diseaseOpen Targets
0.00Suggestive
metabolic diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2HProtein interaction100%POLR2FProtein interaction100%POLR2AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
87%
Brain
67%
Lung
48%
Heart
43%
Liver
40%
Gene Interaction Network
Click a node to explore
GTF2F1POLR2LPOLR2KPOLR2EPOLR2HPOLR2FPOLR2A
PROTEIN STRUCTURE
Preparing viewer…
PDB1I27 · 1.02 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.47–0.80]
RankingsWhere GTF2F1 stands among ~20K protein-coding genes
  • #2,382of 20,598
    Most Researched182 · top quartile
  • #6,678of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedGTF2F1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Single-cell RNA-seq identified novel genes involved in primordial follicle formation.
PMID: 38149096
Front Endocrinol (Lausanne) · 2023
1.00
2
LINE1 are spliced in non-canonical transcript variants to regulate T cell quiescence and exhaustion.
PMID: 35039641
Nat Genet · 2022
0.88
3
Assignment of the human GTF2F1 gene to chromosome 19p13.3.
PMID: 8486367
Genomics · 1993
0.75
4
Investigating Cisplatin Resistance in Squamous Cervical Cancer: Proteomic Insights into DNA Repair Pathways and Omics-Based Drug Repurposing.
PMID: 40298920
J Proteome Res · 2025
0.63
5
Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.
PMID: 31185018
PLoS One · 2019
0.50