GTF2E2

Chr 8p12

general transcription factor IIE subunit 2

Aliases:: TFIIE-B, FE, TF2E2
MANE:: ENST00000355904.9

OMIM: 189964 ↗NCBI: 2961 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GTF2E2 · P29084

v62025-08-01

Predicted Aligned Error matrix for GTF2E2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.2/ 100

Low

291 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)46%
Low(50–70)31%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

trichothiodystrophy
0.68
HIV infectious disease
0.58
neurodegenerative disease
0.48
open-angle glaucoma
0.42
glaucoma
0.32
male reproductive organ cancer
0.19
hereditary disease
0.19
blepharitis
0.09
neoplasm
0.09
cancer
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription initiation factor IIE subunit beta

Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase