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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
ERCC excision repair 2, TFIIH core complex helicase subunitMIM:126340Ensembl:ENSG00000104884HGNC:HGNC:3434PA2784819q13.32

GO terms in ERCC2


Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0003677DNA binding
MFIBAGO:0003684damaged DNA binding
MFIBAGO:0004003ATP-dependent DNA helicase activity
MFIEAGO:0004003ATP-dependent DNA helicase activity
MFIDAGO:0004672protein kinase activity
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
MFIPIGO:0008022protein C-terminus binding
MFIDAGO:0008094DNA-dependent ATPase activity
MFTASGO:0008094DNA-dependent ATPase activity
MFIBAGO:0008353RNA polymerase II carboxy-terminal domain kinase activity
MFIDAGO:0008353RNA polymerase II carboxy-terminal domain kinase activity
MFIDAGO:00431395'-3' DNA helicase activity
MFIBAGO:0043141ATP-dependent 5'-3' DNA helicase activity
MFIEAGO:0046872metal ion binding
MFIPIGO:0047485protein N-terminus binding
MFIEAGO:00515394 iron, 4 sulfur cluster binding
BPIBAGO:0000019regulation of mitotic recombination
BPIBAGO:0000717nucleotide-excision repair, DNA duplex unwinding
BPIEAGO:0001666response to hypoxia
BPIEAGO:0001701in utero embryonic development
BPIDAGO:0006283transcription-coupled nucleotide-excision repair
BPTASGO:0006283transcription-coupled nucleotide-excision repair
BPIGIGO:0006289nucleotide-excision repair
BPNASGO:0006289nucleotide-excision repair
BPTASGO:0006293nucleotide-excision repair, preincision complex stabilization
BPTASGO:0006294nucleotide-excision repair, preincision complex assembly
BPTASGO:0006296nucleotide-excision repair, DNA incision, 5'-to lesion
BPTASGO:0006361transcription initiation from RNA polymerase I promoter
BPTASGO:0006363termination of RNA polymerase I transcription
BPIBAGO:0006366transcription by RNA polymerase II
BPIDAGO:0006366transcription by RNA polymerase II
BPTASGO:0006366transcription by RNA polymerase II
BPTASGO:0006367transcription initiation from RNA polymerase II promoter
BPTASGO:0006368transcription elongation from RNA polymerase II promoter
BPTASGO:00063707-methylguanosine mRNA capping
BPIEAGO:0006468protein phosphorylation
BPIMPGO:0006915apoptotic process
BPIBAGO:0006979response to oxidative stress
BPIMPGO:0006979response to oxidative stress
BPIMPGO:0007059chromosome segregation
BPIEAGO:0007568aging
BPIEAGO:0008283cell proliferation
BPIBAGO:0009411response to UV
BPIGIGO:0009650UV protection
BPIEAGO:0009791post-embryonic development
BPIEAGO:0016032viral process
BPIEAGO:0021510spinal cord development
BPIEAGO:0030198extracellular matrix organization
BPIEAGO:0030282bone mineralization
BPIEAGO:0032289central nervous system myelin formation
BPIEAGO:0032508DNA duplex unwinding
BPIBAGO:0033683nucleotide-excision repair, DNA incision
BPIMPGO:0033683nucleotide-excision repair, DNA incision
BPTASGO:0033683nucleotide-excision repair, DNA incision
BPIEAGO:0035264multicellular organism growth
BPIMPGO:0035315hair cell differentiation
BPIEAGO:0040016embryonic cleavage
BPIEAGO:0043249erythrocyte maturation
BPIEAGO:0043388positive regulation of DNA binding
BPIBAGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIBAGO:0045951positive regulation of mitotic recombination
BPIEAGO:0048568embryonic organ development
BPIEAGO:0048820hair follicle maturation
BPIEAGO:0060218hematopoietic stem cell differentiation
BPTASGO:0070911global genome nucleotide-excision repair
BPIMPGO:1901990regulation of mitotic cell cycle phase transition
CCIEAGO:0000439core TFIIH complex
CCIBAGO:0005634nucleus
CCIDAGO:0005634nucleus
CCIDAGO:0005654nucleoplasm
CCTASGO:0005654nucleoplasm
CCIDAGO:0005669transcription factor TFIID complex
CCIDAGO:0005675holo TFIIH complex
CCTASGO:0005675holo TFIIH complex
CCIDAGO:0005737cytoplasm
CCIDAGO:0005819spindle
CCIDAGO:0005829cytosol
CCIDAGO:0019907cyclin-dependent protein kinase activating kinase holoenzyme complex
CCIDAGO:0071817MMXD complex

Gene expression in normal tissue: ERCC2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ERCC2


DatabasePathway IDPathway Des.
wikipathwaysWP1601Fluoropyrimidine Activity
wikipathwaysWP405Eukaryotic Transcription Initiation
smpdbSMP00478Nucleotide Excision Repair
netpathPathway_AndrogenReceptorAndrogenReceptor
pharmgkbPA165291507Fluoropyrimidine Pathway, Pharmacodynamics
pharmgkbPA165292163Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
kegghsa03022Basal transcription factors - Homo sapiens (human)
kegghsa03420Nucleotide excision repair - Homo sapiens (human)
reactomeR-HSA-112382Formation of RNA Pol II elongation complex
reactomeR-HSA-113418Formation of the Early Elongation Complex
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-162587HIV Life Cycle
reactomeR-HSA-162599Late Phase of HIV Life Cycle
reactomeR-HSA-162906HIV Infection
reactomeR-HSA-1643685Disease
reactomeR-HSA-167152Formation of HIV elongation complex in the absence of HIV Tat
reactomeR-HSA-167158Formation of the HIV-1 Early Elongation Complex
reactomeR-HSA-167160RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
reactomeR-HSA-167161HIV Transcription Initiation
reactomeR-HSA-167162RNA Polymerase II HIV Promoter Escape
reactomeR-HSA-167169HIV Transcription Elongation
reactomeR-HSA-167172Transcription of the HIV genome
reactomeR-HSA-167200Formation of HIV-1 elongation complex containing HIV-1 Tat
reactomeR-HSA-167246Tat-mediated elongation of the HIV-1 transcript
reactomeR-HSA-212165Epigenetic regulation of gene expression
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-2564830Cytosolic iron-sulfur cluster assembly
reactomeR-HSA-3700989Transcriptional Regulation by TP53
reactomeR-HSA-427413NoRC negatively regulates rRNA expression
reactomeR-HSA-5250941Negative epigenetic regulation of rRNA expression
reactomeR-HSA-5663205Infectious disease
reactomeR-HSA-5696395Formation of Incision Complex in GG-NER
reactomeR-HSA-5696398Nucleotide Excision Repair
reactomeR-HSA-5696399Global Genome Nucleotide Excision Repair (GG-NER)
reactomeR-HSA-5696400Dual Incision in GG-NER
reactomeR-HSA-674695RNA Polymerase II Pre-transcription Events
reactomeR-HSA-6781823Formation of TC-NER Pre-Incision Complex
reactomeR-HSA-6781827Transcription-Coupled Nucleotide Excision Repair (TC-NER)
reactomeR-HSA-6782135Dual incision in TC-NER
reactomeR-HSA-6782210Gap-filling DNA repair synthesis and ligation in TC-NER
reactomeR-HSA-6796648TP53 Regulates Transcription of DNA Repair Genes
reactomeR-HSA-72086mRNA Capping
reactomeR-HSA-73762RNA Polymerase I Transcription Initiation
reactomeR-HSA-73772RNA Polymerase I Promoter Escape
reactomeR-HSA-73776RNA Polymerase II Promoter Escape
reactomeR-HSA-73777RNA Polymerase I Chain Elongation
reactomeR-HSA-73779RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
reactomeR-HSA-73854RNA Polymerase I Promoter Clearance
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73863RNA Polymerase I Transcription Termination
reactomeR-HSA-73864RNA Polymerase I Transcription
reactomeR-HSA-73894DNA Repair
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-75953RNA Polymerase II Transcription Initiation
reactomeR-HSA-75955RNA Polymerase II Transcription Elongation
reactomeR-HSA-76042RNA Polymerase II Transcription Initiation And Promoter Clearance
reactomeR-HSA-77075RNA Pol II CTD phosphorylation and interaction with CE
reactomeR-HSA-8953854Metabolism of RNA

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD698Neratinib2
iGMDRD341Triacsin c2
iGMDRD523Cyanoquinoline, 112
iGMDRD116CD4373
iGMDRD160Cis-Platin5
iGMDRD148Pifithrin-mu1
iGMDRD322FK 8662
iGMDRD505Pevonedistat5
iGMDRD300Tozasertib2
iGMDRD886Compound 1541A1
iGMDRD263AACOCF33
iGMDRD414MST-3123
iGMDRD286Nsc 6328392
iGMDRD871BRD63683
iGMDRD68Paclitaxel1
iGMDRD267Oligomycin A5
iGMDRD77Itraconazole5
iGMDRD705Nakiterpiosin1
iGMDRD6AM-5803
iGMDRD288Carboplatin1
iGMDRD103SN-385
iGMDRD251ML1622
iGMDRD297Austocystin D3
iGMDRD280CYTOCHALASIN B3
iGMDRD679Bistramide A1
iGMDRD152179324-69-72
iGMDRD446LY 21832402
iGMDRD144NSC953975
iGMDRD387CHIR-990212
iGMDRD772BRD47703
iGMDRD268Cerulenin2
iGMDRD23Gossypol2
iGMDRD60Quinoclamine2
iGMDRD888Compound 442
iGMDRD506Fedratinib1
iGMDRD780PP-303
iGMDRD188Piperlongumine2
iGMDRD318PAC-15
iGMDRD255SB2250022
iGMDRD138PX 121

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ERCC2

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