Ercc6
Gene Detail

Symbol Name ID

Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 MGI:1100494

Synonyms

C130058G22Rik, CSB, CS group B correcting gene

Feature Type

protein coding gene

Genetic Map

Chromosome 14

19.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr14:32513521-32580989 bp, + strand From NCBI annotation of GRCm38   67469 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:6279  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ercc6

Human homologs

Human Homolog		ERCC6, excision repair cross-complementing rodent repair deficiency, complementation group 6
NCBI Gene ID		2074
neXtProt AC		NX_Q03468
Human Synonyms		ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1
Human Chr (Location)		10q11.23; chr10:50664491-50747147 (-)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human ERCC6

Alleles and phenotypes

All alleles(12) : Targeted(3) Gene trapped(9)
 

Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight.

 
Human Diseases Modeled Using Mouse Ercc6 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(11)

Gene Ontology (GO) classifications

All GO classifications: (34 annotations)

Process	activation of JNKK activity, activation of JUN kinase activity, ...
Component	nucleolus, nucleoplasm, ...
Function	ATP binding, chromatin binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (24)    Tissues (15)    Images (2)
Theiler Stages: 23

Assay Type	Results
RNA in situ	24

cDNA source data(12)
External Resources: GEO   ArrayExpress

Molecular reagents

All nucleic(15) Genomic(2) cDNA(12) Other(1)
Microarray probesets(2)

Other database links

Ensembl Gene Model	ENSMUSG00000054051 (Evidence)
Entrez Gene	319955 (Evidence)
DFCI	TC1605099, TC1606587, TC1607848, TC1612630, TC1639562, TC1698732
DoTS	DT.101270930, DT.102545544, DT.40164264, DT.55271223
NIA Mouse Gene Index	U015478
Consensus CDS Project	CCDS36868.1
International Mouse Knockout Project Status	Ercc6

Sequences

Length	Strain/Species
genomic	319955	NCBI Gene Model | MGI Sequence Detail	67469	C57BL/6J
transcript	NM_001081221	RefSeq | MGI Sequence Detail	8422	Not Specified
polypeptide	NP_001074690	RefSeq | MGI Sequence Detail	1481	Not Specified

All sequences(32) RefSeq(3) UniProt(3)

Polymorphisms

SNPs(325 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001650	Helicase, C-terminal
InterPro	IPR014001	Helicase, superfamily 1/2, ATP-binding domain
InterPro	IPR000330	SNF2-related
Protein Ontology	PR:000007168	DNA excision repair protein ERCC-6

References

(Earliest) J:40211 van der Horst GT, et al., Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell. 1997 May 2;89(3):425-35
(Latest) J:183853 Scheibye-Knudsen M, et al., Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. J Exp Med. 2012 Apr 9;209(4):855-69
All references(73)

Other accession IDs

MGI:2443053