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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:19115942-19129619 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 9.62 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    446 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95413
 protein coding gene Chr7:19115935-19129619 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031774
 protein coding gene Chr7:17378385-17393570 (+)
A/J MGP_AJ_G0031750
 protein coding gene Chr7:17027664-17041336 (+)
AKR/J MGP_AKRJ_G0031676
 protein coding gene Chr7:17496692-17512266 (+)
BALB/cJ MGP_BALBcJ_G0031755
 protein coding gene Chr7:17228984-17242635 (+)
C3H/HeJ MGP_C3HHeJ_G0031477
 protein coding gene Chr7:17757618-17772955 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032221
 protein coding gene Chr7:18255485-18269157 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029287
 protein coding gene Chr7:18673662-18686926 (+)
CAST/EiJ MGP_CASTEiJ_G0030820
 protein coding gene Chr7:14170593-14185328 (+)
CBA/J MGP_CBAJ_G0031439
 protein coding gene Chr7:18915121-18928743 (+)
DBA/2J MGP_DBA2J_G0031594
 protein coding gene Chr7:16969451-16983783 (+)
FVB/NJ MGP_FVBNJ_G0031546
 protein coding gene Chr7:16830784-16844839 (+)
LP/J MGP_LPJ_G0031677
 protein coding gene Chr7:17705125-17718690 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031582
 protein coding gene Chr7:18772625-18786955 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032249
 protein coding gene Chr7:17098102-17112024 (+)
PWK/PhJ MGP_PWKPhJ_G0030544
 protein coding gene Chr7:14063000-14076757 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030371
 protein coding gene Chr7:11808122-11822571 (+)
WSB/EiJ MGP_WSBEiJ_G0030920
 protein coding gene Chr7:17321568-17335252 (+)



Homology
more
  • Human Ortholog
    ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit
  • Synonyms
    COFS2, EM9, TFIIH, TTD, TTD1, XPD
  • Links
    NCBI Gene ID: 2068
    neXtProt AC: NX_P18074
    UniProt: P18074

  • Chr Location
    19q13.32; chr19:45349837-45370918 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Ercc2 mouse models; 27 with human ERCC2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 3 models
      
IDs
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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
    34 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
less
  • All GO Annotations
    98
  • GO References
    18
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    731
  • Tissues
    10
  • cDNA Data
    58
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13871 NCBI Gene Model | MGI Sequence Detail 13678 C57BL/6J ±  kb
    transcript NM_007949 RefSeq | MGI Sequence Detail 3571 C57BL/6  
    polypeptide O08811 UniProt | EBI | MGI Sequence Detail 760 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000007164 general transcription and DNA repair factor IIH helicase subunit XPD
      (term hierarchy)
    • EC
      5.6.2.3
    • InterPro Domains
      IPR006555 ATP-dependent helicase, C-terminal
      IPR013020 ATP-dependent helicase Rad3/Chl1-like
      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
      IPR045028 Helicase superfamily 1/2, DinG/Rad3-like
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR010614 RAD3-like helicase, DEAD
      IPR001945 RAD3/XPD family
    Molecular
    Reagents
    less
    • All nucleic 63
      Genomic 3
      cDNA 60

      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 82
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 18
      Phenotypes 34
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory