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Ercc6 Gene Detail
Summary
  • Symbol
    Ercc6
  • Name
    excision repair cross-complementing rodent repair deficiency, complementation group 6
  • Synonyms
    C130058G22Rik, CSB, CS group B correcting gene
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100494
    NCBI Gene: 319955
Location & Maps
more
  • Sequence Map
    Chr14:32513521-32580989 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      67469 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ERCC6, excision repair cross-complementation group 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ERCC6, excision repair cross-complementation group 6
    Orthology source: HomoloGene
  • Synonyms
    ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1
  • Links
    NCBI Gene ID: 2074
    neXtProt AC: NX_Q03468

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

Human Diseases
more
  • Diseases
    1 with Ercc6 mouse models; 6 with human ERCC6 associations

Human Disease Mouse Models
       Cockayne Syndrome B; CSB   OMIM: 133540 View 4 models
       Cerebrooculofacioskeletal Syndrome 1; COFS1   OMIM: 214150 View 1 model
De Sanctis-Cacchione Syndrome   OMIM: 278800
Lung Cancer   OMIM: 211980
Macular Degeneration, Age-Related, 5; ARMD5   OMIM: 613761
Uv-Sensitive Syndrome 1; UVSS1   OMIM: 600630
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 1 allele in 4 genetic backgrounds
    63 phenotypes from multigenic genotypes
    11 images
    50 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    334 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • InterPro Domains
    IPR001650 Helicase, C-terminal
    IPR014001 Helicase superfamily 1/2, ATP-binding domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR000330 SNF2-related, N-terminal domain
Molecular
Reagents
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  • All nucleic 15
    Genomic 2
    cDNA 12
    Other 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:2443053
References
more
  • Summaries
    All 73
    Developmental Gene Expression 1
    Diseases 5
    Gene Ontology 17
    Phenotypes 50
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory