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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GTF2E2
general transcription factor IIE subunit 2
Chromosome 8 Β· 8p12
NCBI Gene: 2961Ensembl: ENSG00000197265.10HGNC: HGNC:4651UniProt: P29084
103PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosoltranscription factor TFIID complexprotein bindingRNA polymerase II general transcription initiation factor activitytrichothiodystrophyHIV infectionneurodegenerative diseaseopen-angle glaucoma
✦AI Summary

GTF2E2 (general transcription factor IIE subunit 2) is a critical component of the RNA polymerase II transcription initiation machinery. Its primary function is to recruit TFIIH to the preinitiation complex and stimulate TFIIH's kinase and ATPase activities, with both factors required for promoter clearance 1. GTF2E2 operates within the nucleoplasm and nucleus, interacting with transcription factor complexes to facilitate transcription initiation 1. Beyond canonical transcription, GTF2E2 demonstrates broader oncogenic roles. Pan-cancer analysis reveals elevated GTF2E2 expression in most malignancies, with diagnostic potential across 20 cancer types 1. In endometrial carcinoma, GTF2E2 knockdown inhibits cell proliferation, migration, and invasion while inducing ferroptosis through GPX4 downregulation and ACSL4 upregulation 1. In glioblastoma, GTF2E2 upregulates CDC20 expression and promotes malignant progression, with expression regulated by miR-340-5p 23. GTF2E2 also functions as a rate-limiting subunit in transcription factor complex assembly 4. Clinically, biallelic GTF2E2 mutations cause non-photosensitive trichothiodystrophy (NPS-TTD), characterized by cysteine-deficient brittle hair and neuroectodermal abnormalities 56. GTF2E2 emerges as both a potential cancer biomarker and therapeutic target.

Sources cited
1
GTF2E2 is elevated in most cancers with diagnostic potential; promotes UCEC progression and regulates ferroptosis through GPX4/ACSL4 pathway
PMID: 40267151
2
GTF2E2 upregulates CDC20 expression in glioblastoma and associates with poor prognosis
PMID: 32147549
3
GTF2E2 is regulated by miR-340-5p and affects CCND1 expression to promote glioblastoma progression
PMID: 37845349
4
GTF2E2 functions as rate-limiting subunit in transcription factor complex assembly with GTF2E1
PMID: 29032074
5
Biallelic GTF2E2 mutations cause non-photosensitive trichothiodystrophy with brittle hair phenotype
PMID: 31374204
6
GTF2E2 gene variants are associated with trichothiodystrophy and PIBIDS syndrome phenotypes
PMID: 30580289
Disease Associationsβ“˜21
trichothiodystrophyOpen Targets
0.68Moderate
HIV infectionOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
open-angle glaucomaOpen Targets
0.45Moderate
glaucomaOpen Targets
0.35Weak
male reproductive organ cancerOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
blepharitisOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
ThrombocytopeniaOpen Targets
0.06Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.05Suggestive
thrombocytopenia 4Open Targets
0.05Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
platelet-type bleeding disorder 15Open Targets
0.04Suggestive
platelet-type bleeding disorder 10Open Targets
0.04Suggestive
thrombocytopenia 2Open Targets
0.04Suggestive
atherosclerosisOpen Targets
0.04Suggestive
Trichothiodystrophy 6, non-photosensitiveUniProt
Pathogenic Variants2
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr)Pathogenic
Trichothiodystrophy 6, nonphotosensitive
β˜…β˜†β˜†β˜†2023β†’ Residue 187
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro)Pathogenic
Trichothiodystrophy 6, nonphotosensitive
β˜†β˜†β˜†β˜†2025β†’ Residue 150
View on ClinVar β†—
Related Genes
POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%POLR2DProtein interaction100%POLR2HProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
96%
Lung
69%
Brain
53%
Heart
44%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
GTF2E2POLR2BPOLR2LPOLR2KPOLR2EPOLR2DPOLR2H
PROTEIN STRUCTURE
Preparing viewer…
PDB5GPY Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.40Tolerant
Observed/Expected LoF0.35 [0.14–1.11]
RankingsWhere GTF2E2 stands among ~20K protein-coding genes
  • #4,648of 20,598
    Most Researched103 Β· top quartile
  • #4,313of 5,498
    Most Pathogenic Variants2
  • #11,326of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedGTF2E2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pan-cancer analysis and validation show GTF2E2's diagnostic, prognostic, and immunological roles in regulating ferroptosis in endometrial cancer.
PMID: 40267151
PLoS One Β· 2025
1.00
2
Bioinformatical Analysis of Gene Expression Omnibus Database Associates TAF7/CCNB1, TAF7/CCNA2, and GTF2E2/CDC20 Pathways with Glioblastoma Development and Prognosis.
PMID: 32147549
World Neurosurg Β· 2020
0.90
3
GTF2E2 downregulated by miR-340-5p inhibits the malignant progression of glioblastoma.
PMID: 37845349
Cancer Gene Ther Β· 2023
0.80
4
Kidney Cancer Biomarker Selection Using Regularized Survival Models.
PMID: 35954157
Cells Β· 2022
0.70
5
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
PMID: 28017375
Am J Hum Genet Β· 2017
0.60