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    Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 [ Mus musculus (house mouse) ]

    Gene ID: 13871, updated on 31-Jan-2019

    Summary

    Official Symbol
    Ercc2provided by MGI
    Official Full Name
    excision repair cross-complementing rodent repair deficiency, complementation group 2provided by MGI
    Primary source
    MGI:MGI:95413
    See related
    Ensembl:ENSMUSG00000030400
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    XPD; CXPD; Ercc-2; RCO015; AA407812; AU020867; AW240756; Mhdarco15
    Expression
    Ubiquitous expression in thymus adult (RPKM 38.9), ovary adult (RPKM 35.9) and 28 other tissues See more
    Orthologs

    Genomic context

    See Ercc2 in Genome Data Viewer
    Location:
    7 A3; 7 9.62 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (19382039..19395692)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (19967388..19981041)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 1 Neighboring gene CD3E antigen, epsilon polypeptide associated protein Neighboring gene protein phosphatase 1, regulatory subunit 13 like Neighboring gene microRNA 343 Neighboring gene kinesin light chain 3 Neighboring gene predicted gene, 38954 Neighboring gene RIKEN cDNA A930016O22 gene Neighboring gene creatine kinase, muscle

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (6)  1 citation
    • Chemically induced (ENU) (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    5'-3' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent 5'-3' DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP-dependent DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to DNA-dependent ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase 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
     
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding, bridging ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    UV protection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    UV protection ISO
    Inferred from Sequence Orthology
    more info
     
    aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system myelin formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
     
    embryonic cleavage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hair cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hair cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    hair cycle process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hair follicle maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hematopoietic stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide-excision repair, DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleotide-excision repair, DNA incision IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleotide-excision repair, DNA incision ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitotic cell cycle phase transition ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to UV IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spinal cord development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    CAK-ERCC2 complex ISO
    Inferred from Sequence Orthology
    more info
     
    MMXD complex ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    spindle ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor TFIID complex ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor TFIIH core complex ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor TFIIH holo complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    general transcription and DNA repair factor IIH helicase subunit XPD
    Names
    DNA excision repair protein ERCC-2
    DNA repair protein complementing XP-D cells
    TFIIH basal transcription factor complex helicase XPD subunit
    xeroderma pigmentosum group D-complementing protein
    NP_031975.2

    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.

    mRNA and Protein(s)

    1. NM_001363981.1NP_001350910.1  general transcription and DNA repair factor IIH helicase subunit XPD isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC118017
      Conserved Domains (1) summary
      TIGR00604
      Location:7687
      rad3; DNA repair helicase (rad3)
    2. NM_007949.5NP_031975.2  general transcription and DNA repair factor IIH helicase subunit XPD isoform 1

      See identical proteins and their annotated locations for NP_031975.2

      Status: VALIDATED

      Source sequence(s)
      AC118017
      Consensus CDS
      CCDS20900.1
      UniProtKB/Swiss-Prot
      O08811
      Related
      ENSMUSP00000054380.9, ENSMUST00000062831.15
      Conserved Domains (4) summary
      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)
      pfam06777
      Location:272413
      HBB; Helical and beta-bridge domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

      Range
      19382039..19395692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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