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Ercc2 Gene Detail
Summary
  • Symbol
    Ercc2
  • Name
    excision repair cross-complementing rodent repair deficiency, complementation group 2
  • Synonyms
    Ercc-2, Mhdarco15, RCO015, XPD
  • Feature Type
    protein coding gene
  • IDs
    MGI:95413
    NCBI Gene: 13871
  • Gene Overview
    MyGene.info: ERCC2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:19382010-19395694 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13685 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.62 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    COFS2, EM9, TFIIH, TTD, TTD1, XPD
  • Links
    NCBI Gene ID: 2068
    neXtProt AC: NX_P18074
    UniProt: P18074

  • Chr Location
    19q13.32; chr19:45349837-45370647 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 344
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ERCC2
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Ercc2 mouse models; 2 with human ERCC2 associations

Human Disease Mouse Models
      
IDs
View 3 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    75 phenotypes from 6 alleles in 5 genetic backgrounds
    20 phenotypes from multigenic genotypes
    3 images
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023168 VEGA Gene Model | MGI Sequence Detail 13685 C57BL/6J ±  kb
    transcript OTTMUST00000056021 VEGA | MGI Sequence Detail 3578 Not Applicable  
    polypeptide OTTMUSP00000026882 VEGA | MGI Sequence Detail 760 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      157 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000007164 general transcription and DNA repair factor IIH helicase subunit XPD
    • EC
    • InterPro Domains
      IPR006555 ATP-dependent helicase, C-terminal
      IPR013020 ATP-dependent helicase Rad3/Chl1-like
      IPR010614 DEAD2
      IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
      IPR010643 Helical and beta-bridge domain
      IPR006554 Helicase-like, DEXD box c2 type
      IPR014013 Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR001945 RAD3/XPD family
    Molecular
    Reagents
    less
    • All nucleic 62
      Genomic 3
      cDNA 59

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-9576, MGD-MRK-9579, MGI:2141808, MGI:2142167, MGI:2142224, MGI:5621282
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 12
      Phenotypes 28
    • Earliest
      J:44381 Baden HP, et al., The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet. 1976 Sep;28(5):514-21
    • Latest
      J:241287 Baar MP, et al., Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging. Cell. 2017 Mar 23;169(1):132-147.e16

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory