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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

HCOP human homology predictions: ERCC2
Gene Tree: Ercc2

Human
homologs
ERCC2, excision repair cross-complementation group 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2068
neXtProt AC: NX_P18074

Human Synonyms: COFS2, EM9, TFIIH, TTD, TTD1, XPD

Human Chr (Location): 19q13.3; chr19:45351391-45370646 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human ERCC2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Ercc2 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(3)
Interactions
Ercc2 interacts with 138 markers (Mir7-2, Mir7b, Mir17, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (13)    Tissues (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 13
cDNA source data(57)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ercc2 ; ZFIN ercc2    NEW 
Molecular
reagents
All nucleic(62) Genomic(3) cDNA(59)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000023168 (Evidence)
Ensembl Gene Model ENSMUSG00000030400 (Evidence)
Entrez Gene 13871 (Evidence)
UniGene 36524
DFCI TC1575791, TC1656207
DoTS DT.101293170, DT.40180455, DT.531316
NIA Mouse Gene Index U007764
EC 3.6.4.12
Consensus CDS Project CCDS20900.1
International Mouse Phenotyping Consortium Status Ercc2
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(61) 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:210762 Kaushik Tiwari M, et al., XPD-dependent activation of apoptosis in response to triplex-induced DNA damage. Nucleic Acids Res. 2013 Oct;41(19):8979-94
All references(66)
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
07/28/2015
MGI 5.22
The Jackson Laboratory