Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000104884 Gene ID 2068 Accession 3434
Symbol ERCC2 Alias EM9;TTD;XPD;TTD1;COFS2;TFIIH Full Name ERCC excision repair 2, TFIIH core complex helicase subunit
Status Confidence Length 21082 bases Strand Minus strand
Position 19 : 45349837 - 45370918 RNA binding domain ResIII
Summary The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

RNA binding domains (RBDs)

Transcripts

Phenotypes

GWAS

Protein-Protein Interaction (PPI)

Paralogs

Orthologs

Gene Ontology

Expression