GTF2E2 Chromosome 8
General transcription factor IIE subunit 2
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What This Gene Does
The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
General transcription factor IIE complex subunits
Locus Type
gene with protein product
Location
8p12
Ensembl
ENSG00000197265
Associated Conditions (3)
GTF2E2-related disorder
Trichothiodystrophy 6
nonphotosensitive
Key Variants
RS2229299
Conflicting classifications of pathogenicity
GTF2E2-related disorder, GTF2E2-related disorder
Health Risk
RS875989846
Pathogenic
Trichothiodystrophy 6, nonphotosensitive, Trichothiodystrophy 6
Health Risk
RS875989847
Pathogenic
Trichothiodystrophy 6, nonphotosensitive, Trichothiodystrophy 6
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2229299 | Health Risk | Conflicting classifications of pathogenicity | GTF2E2-related disorder, GTF2E2-related disorder |
| RS875989846 | Health Risk | Pathogenic | Trichothiodystrophy 6, nonphotosensitive, Trichothiodystrophy 6 |
| RS875989847 | Health Risk | Pathogenic | Trichothiodystrophy 6, nonphotosensitive, Trichothiodystrophy 6 |