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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 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:133552  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ercc6

Human
homologs
Human Homolog ERCC6, excision repair cross-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; chr10:49454480-49539123 (-)  GRCh38
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 )
 
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)
Interactions
Ercc6 interacts with 396 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (39 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)
Theiler Stages: 23
Assay TypeResults
RNA in situ 24
cDNA source data(12)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(15) Genomic(2) cDNA(12) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000054051 (Evidence)
Entrez Gene319955 (Evidence)
DFCITC1605099, TC1606587, TC1607848, TC1612630, TC1639562, TC1698732
DoTSDT.101270930, DT.102545544, DT.40164264, DT.55271223
NIA Mouse Gene IndexU015478
Consensus CDS ProjectCCDS36868.1
International Mouse Knockout Project StatusErcc6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 319955 NCBI Gene Model | MGI Sequence Detail 67469 C57BL/6J ±  kb
transcript NM_001081221 RefSeq | MGI Sequence Detail 8422 Not Specified 
polypeptide NP_001074690 RefSeq | MGI Sequence Detail 1481 Not Specified 

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: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(75)
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
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory