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 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Ercc2

Human homologs

Human Homolog		ERCC2, excision repair cross-complementing rodent repair deficiency, complementation group 2
NCBI Gene ID		2068
neXtProt AC		NX_P18074
Human Synonyms		COFS2, EM9, TTD, XPD
Human Chr (Location)		19q13.3; chr19:45854649-45873845 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human ERCC2

Alleles and phenotypes

All alleles(7) : Targeted(7)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (70 annotations)

Process	aging, apoptotic process, ...
Component	cyclin-dependent protein kinase activating kinase holoenzyme complex, cytoplasm, ...
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 Type	Results
RNA in situ	13

cDNA source data(60)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(65) Genomic(3) cDNA(62)
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 Knockout Project Status	Ercc2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023168	VEGA Gene Model | MGI Sequence Detail	13685	C57BL/6J
transcript	OTTMUST00000056021	VEGA | MGI Sequence Detail	3578	Not Applicable
polypeptide	OTTMUSP00000026882	VEGA | MGI Sequence Detail	760	Not Applicable

All sequences(59) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(1) : SNPs(62 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	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:188614 Godon C, et al., Generation of DNA single-strand displacement by compromised nucleotide excision repair. EMBO J. 2012 Aug 29;31(17):3550-63
All references(63)

Other accession IDs

MGD-MRK-9576, MGD-MRK-9579, MGI:2141808, MGI:2142167, MGI:2142224