AlphaFold predicted structure
GTF2H5 · Q6ZYL4
Mean pLDDT
68.9/ 100
Low
71 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)62%
- Low(50–70)28%
- Very low(< 50)10%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GTF2H5
Chr 6q25.3general transcription factor IIH subunit 5
- Aliases:
- FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH
- MANE:
- ENST00000607778.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalXeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
BIALLELIC, autosomal or pseudoautosomalWhite matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomalAnophthalmia or microphthalmia
COVID-19 research
Unknown
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Disease associations (Open Targets)
trichothiodystrophy 3, photosensitive
0.73trichothiodystrophy
0.69photosensitive trichothiodystrophy
0.60HIV infectious disease
0.59trichothiodystrophy 1, photosensitive
0.46hearing loss disorder
0.34placenta praevia
0.26neurodegenerative disease
0.21Delayed myelination
0.18hereditary disease
0.18
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
General transcription factor IIH subunit 5
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell
Diseases associated with GTF2H5
Curated MONDO disease pages that list GTF2H5 among their top associated genes.