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Ercc2
Gene Detail
 Symbol
Name
ID
Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
MGI:95413
Synonyms Ercc-2, XPD
Feature Type protein coding gene
Genetic Map
Chromosome 7
9.62 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr7:19382010-19395694 bp, + strand
From VEGA annotation of GRCm38

  13685 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:344  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Ercc2

Human
homologs
Human Homolog ERCC2, excision repair cross-complementation group 2
NCBI Gene ID 2068
neXtProt AC  NX_P18074
Human Synonyms  COFS2, EM9, TFIIH, TTD, XPD
Human Chr (Location)  19q13.3; chr19:45351391-45370587 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human ERCC2
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Ercc2 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)
Interactions
Ercc2 interacts with 138 markers (Mir7-2, Mir7b, Mir17, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (70 annotations)
Process aging, apoptotic process, ...
Component core TFIIH complex, cyclin-dependent protein kinase activating kinase holoenzyme complex, ...
Function 4 iron, 4 sulfur cluster binding, 5'-3' DNA helicase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (13)    Tissues (6)   
Theiler Stages: 24, 26, 28
Assay TypeResults
RNA in situ 13
cDNA source data(57)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(62) Genomic(3) cDNA(59)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000023168 (Evidence)
Ensembl Gene ModelENSMUSG00000030400 (Evidence)
Entrez Gene13871 (Evidence)
UniGene36524
DFCITC1575791, TC1656207
DoTSDT.101293170, DT.40180455, DT.531316
NIA Mouse Gene IndexU007764
EC3.6.4.12
Consensus CDS ProjectCCDS20900.1
International Mouse Knockout Project StatusErcc2
Sequences
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 sequences
All sequences(59) RefSeq(2) UniProt(6)
Polymorphisms RFLP(1) : SNPs within 2kb(158 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006555 ATP-dependent helicase, C-terminal
InterPro IPR010614 DEAD2
InterPro IPR013020 DNA helicase (DNA repair), Rad3 type
InterPro IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
InterPro IPR010643 Domain of unknown function DUF1227
InterPro IPR006554 Helicase-like, DEXD box c2 type
InterPro IPR014013 Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR001945 Xeroderma pigmentosum group D protein
Protein Ontology PR:000007164 TFIIH basal transcription factor complex helicase XPD subunit
References (Earliest) J:30949 Weber CA, et al., Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Mol Cell Biol. 1988 Mar;8(3):1137-46
(Latest) J:198536 Nonnekens J, et al., Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing. Hum Mol Genet. 2013 Jul 15;22(14):2881-93
All references(67)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-9576, MGD-MRK-9579, MGI:2141808, MGI:2142167, MGI:2142224

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
08/19/2014
MGI 5.19
The Jackson Laboratory