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Ercc8
Gene Detail
Symbol

Name
ID
Ercc8
excision repaiross-complementing rodent repair deficiency, complementation group 8
MGI:1919241
Synonyms
2410022P04Rik, 2810431L23Rik, 4631412O06Rik, B130065P18Rik, Ckn1, Csa
Feature Type
protein coding gene
Genetic Map
Chromosome 13
59.69 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr13:108158731-108195364 bp, + strand
From VEGA annotation of GRCm38

  36634 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:62  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ERCC8
Gene Tree: Ercc8

Human
homologs
ERCC8, excision repair cross-complementation group 8
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1161
neXtProt AC: NX_Q13216

Human Synonyms: CKN1, CSA, UVSS2

Human Chr (Location): 5q12.1; chr5:60873832-60945078 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human ERCC8

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(7) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration.
 
Phenotype Images(1)
Interactions
Ercc8 interacts with 301 markers (Mir7-2, Mir7b, Mir10a, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(45)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ercc8 ; ZFIN ercc8    NEW 
Molecular
reagents
All nucleic(46) Genomic(1) cDNA(45)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000030543 (Evidence)
Ensembl Gene Model ENSMUSG00000021694 (Evidence)
Entrez Gene 71991 (Evidence)
UniGene 212208
DFCI TC1585637, TC1579821, TC1597480, TC1642406, TC1606738, TC1678686, TC1698041
DoTS DT.486385, DT.101308991, DT.94199507, DT.91376246, DT.99851633, DT.94199514
NIA Mouse Gene Index U361689, U043369
Consensus CDS Project CCDS26761.1
International Mouse Phenotyping Consortium Status Ercc8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030543 VEGA Gene Model | MGI Sequence Detail 36634 C57BL/6J ±  kb
transcript OTTMUST00000075602 VEGA | MGI Sequence Detail 2111 Not Applicable 
polypeptide OTTMUSP00000039667 VEGA | MGI Sequence Detail 397 Not Applicable 

For the selected sequences
All sequences(90) RefSeq(8) UniProt(9)
Polymorphisms
SNPs within 2kb(256 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020472 G-protein beta WD-40 repeat
InterPro IPR001680 WD40 repeat
InterPro IPR019775 WD40 repeat, conserved site
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000007170 DNA excision repair protein ERCC-8
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(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(43)
Other
accession IDs
MGI:1917208, MGI:1924296, MGI:2443311

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
06/30/2015
MGI 5.22
The Jackson Laboratory