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Ercc8 Gene Detail
Summary
  • Symbol
    Ercc8
  • Name
    excision repaiross-complementing rodent repair deficiency, complementation group 8
  • Synonyms
    2410022P04Rik, 2810431L23Rik, 4631412O06Rik, B130065P18Rik, Ckn1, Csa
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919241
    NCBI Gene: 71991
  • Gene Overview
    MyGene.info: ERCC8
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:108158731-108195364 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 59.69 cM, cytoband D
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    255 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919241
protein coding gene Chr13:108158712-108201204 (.)
129S1/SvImJ MGP_129S1SvImJ_G0020924
protein coding gene Chr13:110453788-110494085 (+)
A/J MGP_AJ_G0020873
protein coding gene Chr13:106106393-106146099 (+)
AKR/J MGP_AKRJ_G0020849
protein coding gene Chr13:109316814-109353388 (+)
BALB/cJ MGP_BALBcJ_G0020874
protein coding gene Chr13:106826305-106863834 (+)
C3H/HeJ MGP_C3HHeJ_G0020663
protein coding gene Chr13:109100872-109141111 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021309
protein coding gene Chr13:113766384-113806972 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018878
protein coding gene Chr13:101582462-101619728 (+)
CAST/EiJ MGP_CASTEiJ_G0020182
protein coding gene Chr13:108628640-108669152 (+)
CBA/J MGP_CBAJ_G0020625
protein coding gene Chr13:118163255-118207581 (+)
DBA/2J MGP_DBA2J_G0020748
protein coding gene Chr13:105867754-105904562 (+)
FVB/NJ MGP_FVBNJ_G0020731
protein coding gene Chr13:104516721-104553595 (+)
LP/J MGP_LPJ_G0020823
protein coding gene Chr13:110518902-110556600 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020759
protein coding gene Chr13:118562255-118601429 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021347
protein coding gene Chr13:108780849-108820264 (+)
PWK/PhJ MGP_PWKPhJ_G0019935
protein coding gene Chr13:104553816-104592742 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019757
protein coding gene Chr13:105046061-105079240 (+)
WSB/EiJ MGP_WSBEiJ_G0020240
protein coding gene Chr13:109327390-109367453 (+)



Homology
more
  • Human Ortholog
    ERCC8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ERCC8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CKN1, CSA, UVSS2
  • Links
    NCBI Gene ID: 1161
    neXtProt AC: NX_Q13216
    UniProt: Q13216

  • Chr Location
    5q12.1; chr5:60873832-60945078 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 62
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: ERCC8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ercc8 mouse models; 2 with human ERCC8 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021694 Ensembl Gene Model | MGI Sequence Detail 36634 C57BL/6J ±  kb
    transcript ENSMUST00000054835 Ensembl | MGI Sequence Detail 2111 Not Applicable  
    polypeptide ENSMUSP00000059211 Ensembl | MGI Sequence Detail 397 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 1
      cDNA 46

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1917208, MGI:1924296, MGI:2443311
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 6
      Phenotypes 14
    • 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:231816 Rainey RN, et al., Mutations in Cockayne Syndrome-Associated Genes (Csa and Csb) Predispose to Cisplatin-Induced Hearing Loss in Mice. J Neurosci. 2016 Apr 27;36(17):4758-70

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory