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    ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit [ Homo sapiens (human) ]

    Gene ID: 2068, updated on 19-Jul-2016
    Official Symbol
    ERCC2provided by HGNC
    Official Full Name
    ERCC excision repair 2, TFIIH core complex helicase subunitprovided by HGNC
    Primary source
    HGNC: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; TTD1; COFS2; TFIIH
    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]
    Orthologs
    Location:
    19q13.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (45349837..45370647, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45854649..45873845, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene creatine kinase, M-type 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 associated protein Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene microRNA 6088

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cerebrooculofacioskeletal syndrome 2
    MedGen: C1853102 OMIM: 610756 GeneReviews: Not available
    Compare labs
    Photosensitive trichothiodystrophy
    MedGen: C1866504 OMIM: 601675 GeneReviews: Not available
    Compare labs
    Xeroderma pigmentosum, group D
    MedGen: C0268138 OMIM: 278730 GeneReviews: Xeroderma Pigmentosum
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
    rev The interaction of Rev with ERCC2 is increased by the presence of RRE PubMed
    Tat 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
    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

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC102762, MGC126218, MGC126219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    metal ion 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
    7-methylguanosine mRNA capping TAS
    Traceable Author Statement
    more info
     
    UV protection IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    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
    PubMed 
    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
     
    global genome nucleotide-excision repair 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
     
    hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth 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, DNA duplex unwinding TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair, DNA incision TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 3'-to lesion TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 5'-to lesion TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, preincision complex assembly TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, preincision complex stabilization TAS
    Traceable Author Statement
    more info
     
    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-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitotic cell cycle phase transition IMP
    Inferred from Mutant Phenotype
    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 
    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 II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    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 process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MMXD complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    TFIIH basal transcription factor complex helicase XPD subunit
    Names
    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 subunit
    TFIIH p80
    basic transcription factor 2 80 kDa subunit
    excision repair cross-complementation group 2
    excision repair cross-complementing rodent repair deficiency, complementation group 2
    xeroderma pigmentosum complementary group D
    xeroderma pigmentosum group D-complementing protein
    NP_000391.1
    NP_001124339.1

    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), LRG_461

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000391.1

      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
      pfam06777
      Location:268413
      DUF1227; Protein of unknown function (DUF1227)
      smart00488
      Location:8280
      DEXDc2; DEAD-like helicases superfamily
      smart00491
      Location:542686
      HELICc2; helicase superfamily c-terminal domain
      TIGR00604
      Location:7708
      rad3; DNA repair helicase (rad3)
    2. NM_001130867.1NP_001124339.1  TFIIH basal transcription factor complex helicase XPD subunit isoform 2

      See identical proteins and their annotated locations for NP_001124339.1

      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
      UniProtKB/Swiss-Prot
      P18074
      Related
      ENSP00000431229, OTTHUMP00000267449, ENST00000485403, OTTHUMT00000457577
      Conserved Domains (2) summary
      pfam06777
      Location:244389
      DUF1227; Protein of unknown function (DUF1227)
      smart00488
      Location:1256
      DEXDc2; DEAD-like helicases superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      45349837..45370647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526611.2XP_011524913.1  

      Conserved Domains (4) summary
      pfam06777
      Location:242387
      DUF1227; Protein of unknown function (DUF1227)
      smart00488
      Location:8254
      DEXDc2; DEAD-like helicases superfamily
      smart00491
      Location:516660
      HELICc2; helicase superfamily c-terminal domain
      TIGR00604
      Location:7682
      rad3; DNA repair helicase (rad3)
    2. XM_017026467.1XP_016881956.1  

    RNA

    1. XR_001753633.1 RNA Sequence

    2. XR_001753634.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      45857950..45877144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)