GTF2H5

Chr 6

general transcription factor IIH subunit 5

Also known as: C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD-A, TTD3, TTDA

NCBI Gene: 404672ENSG00000272047UniProt: Q6ZYL4

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTrichothiodystrophy 3, photosensitive

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.71
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.71LOEUF
pLI 0.045
Z-score 0.58
OE 0.65 (0.26–1.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.06 (0.82–1.38)
40 obs / 37.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.65 (0.26–1.71)
0≤0.351.4
Missense OE?1.06 (0.82–1.38)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 2 / 3.1Missense obs/exp: 40 / 37.9Syn Z: -0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GTF2H5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients