ERCC2
Chr 19ARERCC excision repair 2, TFIIH core complex helicase subunit
Also known as: COFS2, CXPD, EM9, TFIIH, TTD, TTD1, XPD
The ERCC2 protein functions as an ATP-dependent DNA helicase that is essential for transcription-coupled nucleotide excision repair and serves as a core component of the TFIIH transcription factor complex. Autosomal recessive mutations cause xeroderma pigmentosum group D (a cancer-prone syndrome with extreme sun sensitivity), trichothiodystrophy (characterized by brittle hair and developmental abnormalities), and cerebrooculofacioskeletal syndrome. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERCC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools