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

Gene ID: 13871, updated on 18-Apr-2024

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 AllianceGenome:MGI:95413
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; Mhdarco15
Summary
Predicted to enable several functions, including 5'-3' DNA helicase activity; protein C-terminus binding activity; and protein N-terminus binding activity. Acts upstream of or within several processes, including animal organ development; neurogenesis; and nucleic acid metabolic process. Located in nucleus. Is expressed in central nervous system; eye; hair follicle; and liver. Used to study photosensitive trichothiodystrophy and xeroderma pigmentosum group D. Human ortholog(s) of this gene implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; carcinoma (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Orthologous to human ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). [provided by Alliance of Genome Resources, Apr 2022]
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

Location:
7 A3; 7 9.62 cM
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 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)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 1 Neighboring gene STARR-positive B cell enhancer ABC_E6519 Neighboring gene RNA polymerase I subunit G Neighboring gene STARR-seq mESC enhancer starr_18201 Neighboring gene protein phosphatase 1, regulatory subunit 13 like Neighboring gene STARR-positive B cell enhancer mm9_chr7:19967137-19967438 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) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
enables damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
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
 
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 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 determination of adult lifespan IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 hematopoietic stem cell proliferation 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 insulin-like growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway by p53 class mediator 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
 
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
 
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 regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
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
 
involved_in transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within transcription elongation by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transcription initiation at RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
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
 
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)

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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
    UniProtKB/TrEMBL
    E9Q6K1, Q8K223
    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, Q8C487, Q9DC01
    UniProtKB/TrEMBL
    Q3UKK7
    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: GCF_000001635.27-RS_2024_02

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)