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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 Ensembl annotation of GRCm38

  67469 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:133552  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: ERCC6
Gene Tree: Ercc6

Human
homologs
ERCC6, excision repair cross-complementation group 6
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2074
neXtProt AC: NX_Q03468

Human Synonyms: ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1

Human Chr (Location): 10q11.23; chr10:49454480-49539123 (-)  GRCh38.p2

Disease Associations: (6) Diseases Associated with Human ERCC6

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(9) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Ercc6 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(11)
Interactions
Ercc6 interacts with 396 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (38 annotations)
Process activation of JNKK activity, activation of JUN kinase activity, ...
Component intracellular, nucleolus, ...
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 24
cDNA source data(12)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase ercc6    NEW 
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 TC1606587, TC1605099, TC1698732, TC1607848, TC1639562, TC1612630
DoTS DT.55271223, DT.40164264, DT.102545544, DT.101270930
NIA Mouse Gene Index U015478
Consensus CDS Project CCDS36868.1
International Mouse Phenotyping Consortium Status Ercc6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000054051 Ensembl Gene Model | MGI Sequence Detail 67469 C57BL/6J ±  kb
transcript ENSMUST00000066807 Ensembl | MGI Sequence Detail 8422 Not Applicable 
polypeptide ENSMUSP00000066256 Ensembl | MGI Sequence Detail 1481 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(18) UniProt(3)
Polymorphisms
SNPs within 2kb(334 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
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:219993 Nagtegaal AP, et al., Cockayne syndrome group B (csb) and group a (csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. J Neurosci. 2015 Mar 11;35(10):4280-6
All references(76)
Disease annotation references (1)
Other
accession IDs
MGI:2443053

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory