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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GTF2E1
general transcription factor IIE subunit 1
Chromosome 3 · 3q13.33
NCBI Gene: 2960Ensembl: ENSG00000153767.11HGNC: HGNC:4650UniProt: P29083
92PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA polymerase II general transcription initiation factor activitytranscription by RNA polymerase IInucleusHIV infectionneurodegenerative diseasepituitary gland diseasetrauma complication
✦AI Summary

GTF2E1 (general transcription factor IIE subunit 1) is a core component of the basal transcription machinery that recruits TFIIH to the RNA polymerase II preinitiation complex and stimulates TFIIH's kinase and ATPase activities, which are essential for promoter clearance and transcription initiation 1. GTF2E1 functions as a rate-limiting subunit of the TFIIE complex, with its abundance directly regulating the assembly and function of other transcription factor complexes 2. GTF2E1 has significant disease associations. GTF2E1 expression is downregulated in colorectal cancer tissues, and microRNA-452 directly suppresses GTF2E1 transcripts in colorectal cancer cells, suggesting GTF2E1 acts as a tumor suppressor 3. GTF2E1 knockdown alters expression of 166 genes and reduces cell viability in colorectal carcinoma cells, with dysregulation linked to atherosclerosis development, colon carcinoma, and B-cell chr3 lymphocytic leukemia 4. Additionally, GTF2E1 dysregulation is implicated in preeclampsia through impaired TFIIH-mediated transcription in placenta, with GTF2E1 identified as a major regulator of differentially-expressed genes in preeclamptic placentas 1. Beyond transcription, GTF2E1 is required for HIV-1 replication, indicating roles in viral pathogenesis 5.

Sources cited
1
GTF2E1 is a component of TFIIE that modulates TFIIH, and dysregulation of GTF2E1 and basal transcription pathway genes is associated with preeclampsia
PMID: 24885447
2
GTF2E1 is a rate-limiting subunit whose depletion induces decreased abundance of other TFIIE complex members
PMID: 29032074
3
GTF2E1 protein expression is decreased in colorectal cancer tissues and microRNA-452 directly downregulates GTF2E1 transcripts
PMID: 34553694
4
GTF2E1 knockdown alters expression of 166 genes, reduces cell viability, and dysregulation is associated with atherosclerosis, colon carcinoma, and B-cell chronic lymphocytic leukemia
PMID: 39758846
5
GTF2E1 is required for HIV-1 replication in human cells
PMID: 22404213
Disease Associationsⓘ20
HIV infectionOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
pituitary gland diseaseOpen Targets
0.28Weak
trauma complicationOpen Targets
0.08Suggestive
vascular diseaseOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
sialadenitisOpen Targets
0.04Suggestive
atherosclerosisOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
pulmonary arterial hypertensionOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
urinary bladder carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
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
Heart
100%
Brain
88%
Liver
62%
Lung
59%
Ovary
48%
Bone Marrow
42%
Gene Interaction Network
Click a node to explore
GTF2E1POLR2BPOLR2LPOLR2KPOLR2EPOLR2DPOLR2H
PROTEIN STRUCTURE
Preparing viewer…
PDB5GPY · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.77Intermediate
Observed/Expected LoF0.36 [0.23–0.58]
RankingsWhere GTF2E1 stands among ~20K protein-coding genes
  • #5,188of 20,598
    Most Researched92
  • #3,910of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedGTF2E1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Characterization of TFIIE-regulated genes by transcriptome analysis.
PMID: 39758846
Turk J Biol · 2024
1.00
2
Widespread Post-transcriptional Attenuation of Genomic Copy-Number Variation in Cancer.
PMID: 29032074
Cell Syst · 2017
0.80
3
MicroRNA 452 regulates
PMID: 34553694
J Genet · 2021
0.60
4
Nucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.
PMID: 24885447
BMC Genomics · 2014
0.40
5
Identification of cellular proteins required for replication of human immunodeficiency virus type 1.
PMID: 22404213
AIDS Res Hum Retroviruses · 2012
0.20