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

    Gene ID: 13871, updated on 23-Jun-2021

    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
    XP; XPD; CXPD; RCO0; Ercc-; Ercc-2; Mhdarc; 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
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    Genomic context

    See Ercc2 in Genome Data Viewer
    Location:
    7 A3; 7 9.62 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (19115942..19129619)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19382017..19395694)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (19967388..19981041)

    Chromosome 7 - NC_000073.7Genomic 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 Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 5'-3' DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-macromolecule adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within UV protection IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within UV protection ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within central nervous system myelin formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromosome segregation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within embryonic cleavage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within erythrocyte maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hair cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hair cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within hair cycle process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hair follicle maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hematopoietic stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nucleotide-excision repair, DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA incision IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA incision ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle phase transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to UV IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ribosomal small subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spinal cord development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within transcription elongation from RNA polymerase I promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of CAK-ERCC2 complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of MMXD complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in spindle ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription factor TFIID complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription factor TFIIH core complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of 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_001350910.1
    NP_031975.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS90172.1
      Related
      ENSMUSP00000104100.2, ENSMUST00000108460.8
      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
      ENSMUSP00000054380.10, ENSMUST00000062831.16
      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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      19115942..19129619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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