Homo sapiens Gene: ERCC2
Summary
InnateDB Gene IDBG-57385.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ERCC2
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 2
Synonyms COFS2; EM9; TFIIH; TTD; XPD;
Species Homo sapiens
Ensembl Gene ENSG00000104884
Encoded Proteins
excision repair cross-complementing rodent repair deficiency, complementation group 2
excision repair cross-complementing rodent repair deficiency, complementation group 2
excision repair cross-complementing rodent repair deficiency, complementation group 2
excision repair cross-complementing rodent repair deficiency, complementation group 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:45349837-45370918
Strand Reverse strand
Band q13.32
Transcripts
ENST00000391945 ENSP00000375809
ENST00000391944 ENSP00000375808
ENST00000391942
ENST00000391941 ENSP00000375805
ENST00000485403 ENSP00000431229
ENST00000586441
ENST00000586856 ENSP00000466998
ENST00000586131 ENSP00000464887
ENST00000587376 ENSP00000465593
ENST00000588652
ENST00000591309 ENSP00000465207
ENST00000586737
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
Experimentally validated
Total 43 [view]
Protein-Protein 42 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0004672 protein kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0008026 ATP-dependent helicase activity
GO:0008094 DNA-dependent ATPase activity
GO:0008353 RNA polymerase II carboxy-terminal domain kinase activity
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0043139 5'-3' DNA helicase activity
GO:0046872 metal ion binding
GO:0047485 protein N-terminus binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0006139 nucleobase-containing compound metabolic process
GO:0006200 ATP catabolic process
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006360 transcription from RNA polymerase I promoter
GO:0006361 transcription initiation from RNA polymerase I promoter
GO:0006362 transcription elongation from RNA polymerase I promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0006366 transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006370 7-methylguanosine mRNA capping
GO:0006468 protein phosphorylation
GO:0006915 apoptotic process
GO:0006979 response to oxidative stress
GO:0007059 chromosome segregation
GO:0007568 aging
GO:0008283 cell proliferation
GO:0009411 response to UV
GO:0009650 UV protection
GO:0009791 post-embryonic development
GO:0010467 gene expression
GO:0016032 viral process
GO:0021510 spinal cord development
GO:0022405 hair cycle process
GO:0030198 extracellular matrix organization
GO:0030282 bone mineralization
GO:0032289 central nervous system myelin formation
GO:0032508 DNA duplex unwinding
GO:0033683 nucleotide-excision repair, DNA incision
GO:0035264 multicellular organism growth
GO:0035315 hair cell differentiation
GO:0040016 embryonic cleavage
GO:0043249 erythrocyte maturation
GO:0043388 positive regulation of DNA binding
GO:0043588 skin development
GO:0044281 small molecule metabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048820 hair follicle maturation
GO:0050434 positive regulation of viral transcription
GO:0060218 hematopoietic stem cell differentiation
GO:1901990 regulation of mitotic cell cycle phase transition
Cellular Component
GO:0000439 core TFIIH complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005675 holo TFIIH complex
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0019907 cyclin-dependent protein kinase activating kinase holoenzyme complex
GO:0071817 MMXD complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
AndrogenReceptor pathway
REACTOME
RNA Polymerase II Transcription Initiation pathway
Formation of the Early Elongation Complex pathway
Transcription-coupled NER (TC-NER) pathway
RNA Polymerase I Transcription pathway
RNA Polymerase I Promoter Escape pathway
Formation of incision complex in GG-NER pathway
Late Phase of HIV Life Cycle pathway
RNA Pol II CTD phosphorylation and interaction with CE pathway
Epigenetic regulation of gene expression pathway
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening pathway
Dual incision reaction in GG-NER pathway
RNA Polymerase I Promoter Clearance pathway
NoRC negatively regulates rRNA expression pathway
Global Genomic NER (GG-NER) pathway
Formation of HIV-1 elongation complex containing HIV-1 Tat pathway
RNA Polymerase I Transcription Termination pathway
Tat-mediated elongation of the HIV-1 transcript pathway
Cytosolic iron-sulfur cluster assembly pathway
Formation of RNA Pol II elongation complex pathway
HIV Transcription Elongation pathway
Formation of HIV elongation complex in the absence of HIV Tat pathway
RNA Polymerase II Transcription pathway
RNA Polymerase II HIV Promoter Escape pathway
Dual incision reaction in TC-NER pathway
RNA Polymerase II Promoter Escape pathway
HIV Life Cycle pathway
RNA Polymerase II Pre-transcription Events pathway
mRNA Capping pathway
RNA Polymerase I Chain Elongation pathway
RNA Polymerase I Transcription Initiation pathway
Transcription of the HIV genome pathway
RNA Pol II CTD phosphorylation and interaction with CE pathway
RNA Polymerase II Transcription Elongation pathway
HIV Infection pathway
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
Formation of transcription-coupled NER (TC-NER) repair complex pathway
HIV Transcription Initiation pathway
Metabolism pathway
Formation of the HIV-1 Early Elongation Complex pathway
Nucleotide Excision Repair pathway
Gene Expression pathway
Disease pathway
RNA Polymerase II Transcription Initiation And Promoter Clearance pathway
DNA Repair pathway
Negative epigenetic regulation of rRNA expression pathway
KEGG
Basal transcription factors pathway
Nucleotide excision repair pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.487294 Hs.663234
RefSeq NM_000400 NM_001130867 XM_005258639
HUGO
OMIM
CCDS CCDS33049 CCDS46112
HPRD 00530
IMGT
EMBL
GenPept
RNA Seq Atlas