ERCC3

Chr 2

ERCC excision repair 3, TFIIH core complex helicase subunit

Also known as: BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB

NCBI Gene: 2071ENSG00000163161UniProt: P19447

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtXeroderma pigmentosum complementation group B
UniProtTrichothiodystrophy 2, photosensitive

Clinical highlights

Gene-disease validity (ClinGen)
xeroderma pigmentosum group B · ARDefinitivesufficient evidence for diagnostic panels
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.
1
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
LOF
Mechanism· G2P
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GeneReview available — ERCC3
Authoritative clinical overview · Recommended first read
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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?
0.79LOEUF
pLI 0.000
Z-score 2.68
OE 0.56 (0.40–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.93Z-score
OE missense 0.87 (0.80–0.95)
379 obs / 433.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.40–0.79)
0≤0.351.4
Missense OE?0.87 (0.80–0.95)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 24 / 43.0Missense obs/exp: 379 / 433.6Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ERCC3 · protein map & ClinVar variants

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

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