| Gene Symbol | ERCC2 |
|---|---|
| Entrez Gene | 2068 |
| Alt Symbol | COFS2, EM9, TFIIH, TTD, XPD |
| Species | Human |
| Gene Type | protein-coding |
| Description | excision repair cross-complementation group 2 |
| Other Description | BTF2 p80|CXPD|DNA excision repair protein ERCC-2|DNA repair protein complementing XP-D cells|TFIIH 80 kDa subunit|TFIIH basal transcription factor complex 80 kDa subunit|TFIIH basal transcription factor complex helicase XPB subunit|TFIIH basal transcription factor complex helicase XPD subunit|TFIIH basal transcription factor complex helicase subunit|TFIIH p80|basic transcription factor 2 80 kDa subunit|excision repair cross-complementing rodent repair deficiency, complementation group 2|xeroderma pigmentosum complementary group D|xeroderma pigmentosum group D-complementing protein |
| Swissprots | Q8N721 Q2YDY2 Q7KZU6 P18074 Q2TB78 |
| Accessions | AAL48323 AAM45142 EAW57341 EAW57342 P18074 AK092872 AK130849 BAC85446 AK303358 BAG64418 AL535248 BC008346 BC108255 AAI08256 BC110522 AAI10523 BC110523 AAI10524 BG719746 BM769772 BM988142 BT006883 AAP35529 BX376468 CN388234 DA409300 X52221 CAA36463 X52222 CAA36464 XM_011526611 XP_011524913 XR_935763 NM_000400 NP_000391 NM_001130867 NP_001124339 |
| Function | ATP-dependent 5'-3' DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:15494306, ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:8413672}. |
| Subcellular Location | Nucleus {ECO:0000269|PubMed:20797633}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20797633}. |
| Top Pathways | Nucleotide excision repair, Basal transcription factors |