ERCC2
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:126340 Ensembl IDEnsembl:ENSG00000104884 HGNC IDHGNC:HGNC:3434 PHARMGKB IDPA27848 Map Location19q13.32 | |||||
GO terms in ERCC2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IBA | GO:0004003 | ATP-dependent DNA helicase activity |
| MF | IEA | GO:0004003 | ATP-dependent DNA helicase activity |
| MF | IDA | GO:0004672 | protein kinase activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: ERCC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERCC2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1601 | Fluoropyrimidine Activity |
| wikipathways | WP405 | Eukaryotic Transcription Initiation |
| smpdb | SMP00478 | Nucleotide Excision Repair |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
| pharmgkb | PA165291507 | Fluoropyrimidine Pathway, Pharmacodynamics |
| pharmgkb | PA165292163 | Doxorubicin Pathway (Cancer Cell), Pharmacodynamics |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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