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    ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 [ Homo sapiens ]

    Gene ID: 2068, updated on 20-May-2012

    Summary

    Official Symbol
    ERCC2provided by HGNC
    Official Full Name
    excision repair cross-complementing rodent repair deficiency, complementation group 2provided by HGNC
    Primary source
    HGNC:3434
    See related
    Ensembl:ENSG00000104884; HPRD:00530; MIM:126340; Vega:OTTHUMG00000048190
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EM9; TTD; XPD; COFS2; MGC102762; MGC126218; MGC126219
    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]

    Genomic context

    Location :
    19q13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (45854649..45873845, complement)
    See ERCC2 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene creatine kinase, muscle Neighboring gene ribosomal protein S16 pseudogene 9 Neighboring gene kinesin light chain 3 Neighboring gene protein phosphatase 1, regulatory subunit 13 like Neighboring gene CD3e molecule, epsilon associated protein Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
    tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
    tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
    tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
    tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
    tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P18074 P06493 CDK1    HPRD  PubMed  
    P18074 P50613 CDK7    HPRD  PubMed  
    P18074 P18074 ERCC2    HPRD  PubMed  
    P18074 P19447 ERCC3    HPRD  PubMed  
    P18074 P28715 ERCC5    HPRD  PubMed  
    P18074 P32780 GTF2H1    HPRD  PubMed  
    P18074 Q13888 GTF2H2    HPRD  PubMed  
    P18074 Q06609 RAD51    HPRD  PubMed  
    P18074 P43351 RAD52    HPRD  PubMed  
    BioGRID:108380 BioGRID:106862 AR    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108380 BioGRID:120849 ATF7IP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108380 BioGRID:107342 CCNH    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108380 BioGRID:107457 CDK7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108380 BioGRID:108383 ERCC3    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:108380 BioGRID:108385 ERCC5    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108380 BioGRID:108386 ERCC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108380 BioGRID:109220 GTF2H1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108380 BioGRID:109221 GTF2H2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108380 BioGRID:109222 GTF2H3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108380 BioGRID:119365 HERC5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108380 BioGRID:114995 ISG15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108380 BioGRID:120645 PIDD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108380 BioGRID:113010 TP53    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108380 BioGRID:113500 TRIM25    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108380 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108380 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    5'-3' DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to DNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-dependent ATPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to RNA polymerase II carboxy-terminal domain kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
     
    iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
     
    UV protection IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system myelin formation IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
     
    embryonic cleavage IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    hair cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hair follicle maturation IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    induction of apoptosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA capping TAS
    Traceable Author Statement
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide-excision repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    nucleotide-excision repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA damage removal TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-dependent IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of viral transcription TAS
    Traceable Author Statement
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin development IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    termination of RNA polymerase I transcription TAS
    Traceable Author Statement
    more info
     
    transcription elongation from RNA polymerase I promoter TAS
    Traceable Author Statement
    more info
     
    transcription elongation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription from RNA polymerase I promoter TAS
    Traceable Author Statement
    more info
     
    transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription initiation from RNA polymerase I promoter TAS
    Traceable Author Statement
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription-coupled nucleotide-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    viral reproduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    MMXD complex IDA
    Inferred from Direct Assay
    more info
     
    SSL2-core TFIIH complex IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with cyclin-dependent protein kinase activating kinase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    holo TFIIH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    holo TFIIH complex TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    spindle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    TFIIH basal transcription factor complex helicase XPD subunit
    Names
    TFIIH basal transcription factor complex helicase XPD subunit
    CXPD
    BTF2 p80
    TFIIH p80
    TFIIH 80 kDa subunit
    DNA excision repair protein ERCC-2
    DNA repair protein complementing XP-D cells
    basic transcription factor 2 80 kDa subunit
    xeroderma pigmentosum complementary group D
    xeroderma pigmentosum group D-complementing protein
    TFIIH basal transcription factor complex 80 kDa subunit
    TFIIH basal transcription factor complex helicase subunit
    NP_000391.1
    NP_001124339.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007067.2 RefSeqGene

      Range
      5001..24197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000400.3NP_000391.1  TFIIH basal transcription factor complex helicase XPD subunit isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC108255, CN388234, DA409300
      Consensus CDS
      CCDS33049.1
      UniProtKB/Swiss-Prot
      P18074
      Related
      ENSP00000375809, OTTHUMP00000045860, ENST00000391945, OTTHUMT00000109626
      Conserved Domains (4) summary
      TIGR00604
      Location:7708
      Blast Score: 2483
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:72256
      Blast Score: 484
      DEAD_2; DEAD_2
      pfam06777
      Location:268413
      Blast Score: 630
      DUF1227; Protein of unknown function (DUF1227)
      cl09099
      Location:542686
      Blast Score: 501
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001130867.1NP_001124339.1  TFIIH basal transcription factor complex helicase XPD subunit isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional segment in the 5' region, which results in a downstream AUG start codon, and lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus and a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL535248, BC008346, BG719746, BT006883, DA409300
      Consensus CDS
      CCDS46112.1
      Related
      ENSP00000375804, ENST00000391940
      Conserved Domains (3) summary
      smart00488
      Location:1256
      Blast Score: 845
      DEXDc2; DEAD-like helicases superfamily
      pfam06733
      Location:48232
      Blast Score: 478
      DEAD_2; DEAD_2
      pfam06777
      Location:244389
      Blast Score: 625
      DUF1227; Protein of unknown function (DUF1227)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      45854649..45873845, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      42287494..42306749, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AY092780.1 AAM45142.1
    genomic CH471126.1 EAW57341.1
      EAW57342.1
    genomic L47234.2 AAL48323.1
    mRNA AK092872.1 None
    mRNA AK130849.1 BAC85446.1
    mRNA AK303358.1 BAG64418.1
    mRNA AL535248.3 None
    mRNA BC008346.1 None
    mRNA BC108255.1 AAI08256.1
    mRNA BC110522.1 AAI10523.1
    mRNA BC110523.1 AAI10524.1
    mRNA BG719746.1 None
    mRNA BM769772.1 None
    mRNA BM988142.1 None
    mRNA BT006883.1 AAP35529.1
    mRNA BX376468.2 None
    mRNA CN388234.1 None
    mRNA DA409300.1 None
    mRNA X52221.1 CAA36463.1
    mRNA X52222.1 CAA36464.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P18074.1 GenPept UniProtKB/Swiss-Prot:P18074
    Q2TB79 GenPept UniProtKB/TrEMBL:Q2TB79
    Q6ZNQ5 GenPept UniProtKB/TrEMBL:Q6ZNQ5

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