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 |
|---|---|---|---|---|---|
| ERCC excision repair 2, TFIIH core complex helicase subunit | MIM:126340 | Ensembl:ENSG00000104884 | HGNC:HGNC:3434 | PA27848 | 19q13.32 |
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 |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IDA | GO:0008094 | DNA-dependent ATPase activity |
| MF | TAS | GO:0008094 | DNA-dependent ATPase activity |
| MF | IBA | GO:0008353 | RNA polymerase II carboxy-terminal domain kinase activity |
| MF | IDA | GO:0008353 | RNA polymerase II carboxy-terminal domain kinase activity |
| MF | IDA | GO:0043139 | 5'-3' DNA helicase activity |
| MF | IBA | GO:0043141 | ATP-dependent 5'-3' DNA helicase activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0047485 | protein N-terminus binding |
| MF | IEA | GO:0051539 | 4 iron, 4 sulfur cluster binding |
| BP | IBA | GO:0000019 | regulation of mitotic recombination |
| BP | IBA | GO:0000717 | nucleotide-excision repair, DNA duplex unwinding |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IDA | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | TAS | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | IGI | GO:0006289 | nucleotide-excision repair |
| BP | NAS | GO:0006289 | nucleotide-excision repair |
| BP | TAS | GO:0006293 | nucleotide-excision repair, preincision complex stabilization |
| BP | TAS | GO:0006294 | nucleotide-excision repair, preincision complex assembly |
| BP | TAS | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | TAS | GO:0006361 | transcription initiation from RNA polymerase I promoter |
| BP | TAS | GO:0006363 | termination of RNA polymerase I transcription |
| BP | IBA | GO:0006366 | transcription by RNA polymerase II |
| BP | IDA | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
| BP | TAS | GO:0006368 | transcription elongation from RNA polymerase II promoter |
| BP | TAS | GO:0006370 | 7-methylguanosine mRNA capping |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | IMP | GO:0006915 | apoptotic process |
| BP | IBA | GO:0006979 | response to oxidative stress |
| BP | IMP | GO:0006979 | response to oxidative stress |
| BP | IMP | GO:0007059 | chromosome segregation |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0008283 | cell proliferation |
| BP | IBA | GO:0009411 | response to UV |
| BP | IGI | GO:0009650 | UV protection |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IEA | GO:0016032 | viral process |
| BP | IEA | GO:0021510 | spinal cord development |
| BP | IEA | GO:0030198 | extracellular matrix organization |
| BP | IEA | GO:0030282 | bone mineralization |
| BP | IEA | GO:0032289 | central nervous system myelin formation |
| BP | IEA | GO:0032508 | DNA duplex unwinding |
| BP | IBA | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IMP | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IEA | GO:0035264 | multicellular organism growth |
| BP | IMP | GO:0035315 | hair cell differentiation |
| BP | IEA | GO:0040016 | embryonic cleavage |
| BP | IEA | GO:0043249 | erythrocyte maturation |
| BP | IEA | GO:0043388 | positive regulation of DNA binding |
| BP | IBA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0045951 | positive regulation of mitotic recombination |
| BP | IEA | GO:0048568 | embryonic organ development |
| BP | IEA | GO:0048820 | hair follicle maturation |
| BP | IEA | GO:0060218 | hematopoietic stem cell differentiation |
| BP | TAS | GO:0070911 | global genome nucleotide-excision repair |
| BP | IMP | GO:1901990 | regulation of mitotic cell cycle phase transition |
| CC | IEA | GO:0000439 | core TFIIH complex |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005669 | transcription factor TFIID complex |
| CC | IDA | GO:0005675 | holo TFIIH complex |
| CC | TAS | GO:0005675 | holo TFIIH complex |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005819 | spindle |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0019907 | cyclin-dependent protein kinase activating kinase holoenzyme complex |
| CC | IDA | GO:0071817 | MMXD complex |
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 |
| kegg | hsa03022 | Basal transcription factors - Homo sapiens (human) |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| reactome | R-HSA-112382 | Formation of RNA Pol II elongation complex |
| reactome | R-HSA-113418 | Formation of the Early Elongation Complex |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-162587 | HIV Life Cycle |
| reactome | R-HSA-162599 | Late Phase of HIV Life Cycle |
| reactome | R-HSA-162906 | HIV Infection |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-167152 | Formation of HIV elongation complex in the absence of HIV Tat |
| reactome | R-HSA-167158 | Formation of the HIV-1 Early Elongation Complex |
| reactome | R-HSA-167160 | RNA Pol II CTD phosphorylation and interaction with CE during HIV infection |
| reactome | R-HSA-167161 | HIV Transcription Initiation |
| reactome | R-HSA-167162 | RNA Polymerase II HIV Promoter Escape |
| reactome | R-HSA-167169 | HIV Transcription Elongation |
| reactome | R-HSA-167172 | Transcription of the HIV genome |
| reactome | R-HSA-167200 | Formation of HIV-1 elongation complex containing HIV-1 Tat |
| reactome | R-HSA-167246 | Tat-mediated elongation of the HIV-1 transcript |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2564830 | Cytosolic iron-sulfur cluster assembly |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-427413 | NoRC negatively regulates rRNA expression |
| reactome | R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| reactome | R-HSA-5663205 | Infectious disease |
| reactome | R-HSA-5696395 | Formation of Incision Complex in GG-NER |
| reactome | R-HSA-5696398 | Nucleotide Excision Repair |
| reactome | R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| reactome | R-HSA-5696400 | Dual Incision in GG-NER |
| reactome | R-HSA-674695 | RNA Polymerase II Pre-transcription Events |
| reactome | R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex |
| reactome | R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) |
| reactome | R-HSA-6782135 | Dual incision in TC-NER |
| reactome | R-HSA-6782210 | Gap-filling DNA repair synthesis and ligation in TC-NER |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| reactome | R-HSA-72086 | mRNA Capping |
| reactome | R-HSA-73762 | RNA Polymerase I Transcription Initiation |
| reactome | R-HSA-73772 | RNA Polymerase I Promoter Escape |
| reactome | R-HSA-73776 | RNA Polymerase II Promoter Escape |
| reactome | R-HSA-73777 | RNA Polymerase I Chain Elongation |
| reactome | R-HSA-73779 | RNA Polymerase II Transcription Pre-Initiation And Promoter Opening |
| reactome | R-HSA-73854 | RNA Polymerase I Promoter Clearance |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73863 | RNA Polymerase I Transcription Termination |
| reactome | R-HSA-73864 | RNA Polymerase I Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-75953 | RNA Polymerase II Transcription Initiation |
| reactome | R-HSA-75955 | RNA Polymerase II Transcription Elongation |
| reactome | R-HSA-76042 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
| reactome | R-HSA-77075 | RNA Pol II CTD phosphorylation and interaction with CE |
| reactome | R-HSA-8953854 | Metabolism of RNA |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD698 | Neratinib | 2 |
| iGMDRD341 | Triacsin c | 2 |
| iGMDRD523 | Cyanoquinoline, 11 | 2 |
| iGMDRD116 | CD437 | 3 |
| iGMDRD160 | Cis-Platin | 5 |
| iGMDRD148 | Pifithrin-mu | 1 |
| iGMDRD322 | FK 866 | 2 |
| iGMDRD505 | Pevonedistat | 5 |
| iGMDRD300 | Tozasertib | 2 |
| iGMDRD886 | Compound 1541A | 1 |
| iGMDRD263 | AACOCF3 | 3 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD68 | Paclitaxel | 1 |
| iGMDRD267 | Oligomycin A | 5 |
| iGMDRD77 | Itraconazole | 5 |
| iGMDRD705 | Nakiterpiosin | 1 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD288 | Carboplatin | 1 |
| iGMDRD103 | SN-38 | 5 |
| iGMDRD251 | ML162 | 2 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD152 | 179324-69-7 | 2 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD144 | NSC95397 | 5 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD268 | Cerulenin | 2 |
| iGMDRD23 | Gossypol | 2 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD780 | PP-30 | 3 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD318 | PAC-1 | 5 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD138 | PX 12 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC2
CLASSFICATION
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