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Ercc3 Gene Detail
Summary
  • Symbol
    Ercc3
  • Name
    excision repair cross-complementing rodent repair deficiency, complementation group 3
  • Synonyms
    XPB
  • Feature Type
    protein coding gene
  • IDs
    MGI:95414
    NCBI Gene: 13872
  • Gene Overview
    MyGene.info: ERCC3
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:32240304-32270151 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 17.97 cM, cytoband B3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    114 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95414
protein coding gene Chr18:32240300-32270151 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024226
protein coding gene Chr18:30372512-30404114 (+)
A/J MGP_AJ_G0024192
protein coding gene Chr18:29361823-29391659 (+)
AKR/J MGP_AKRJ_G0024161
protein coding gene Chr18:30180859-30212470 (+)
BALB/cJ MGP_BALBcJ_G0024192
protein coding gene Chr18:29459473-29489224 (+)
C3H/HeJ MGP_C3HHeJ_G0023960
protein coding gene Chr18:30222118-30253177 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024634
protein coding gene Chr18:31457330-31488313 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022075
protein coding gene Chr18:29594336-29624830 (+)
CAST/EiJ MGP_CASTEiJ_G0023435
protein coding gene Chr18:30112825-30143350 (+)
CBA/J MGP_CBAJ_G0023928
protein coding gene Chr18:32422198-32452006 (+)
DBA/2J MGP_DBA2J_G0024060
protein coding gene Chr18:29034286-29064888 (+)
FVB/NJ MGP_FVBNJ_G0024026
protein coding gene Chr18:28742042-28771826 (+)
LP/J MGP_LPJ_G0024141
protein coding gene Chr18:30459129-30489748 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024054
protein coding gene Chr18:33762966-33792755 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024682
protein coding gene Chr18:30039470-30069294 (+)
PWK/PhJ MGP_PWKPhJ_G0023178
protein coding gene Chr18:29203796-29236098 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022987
protein coding gene Chr18:30282650-30316074 (+)
WSB/EiJ MGP_WSBEiJ_G0023498
protein coding gene Chr18:29946850-29977238 (+)



Homology
more
  • Human Ortholog
    ERCC3, ERCC excision repair 3, TFIIH core complex helicase subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ERCC3, ERCC excision repair 3, TFIIH core complex helicase subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BTF2, GTF2H, RAD25, TFIIH, TTD2, XPB
  • Links
    NCBI Gene ID: 2071
    neXtProt AC: NX_P19447
    UniProt: P19447

  • Chr Location
    2q14.3; chr2:127257290-127294176 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ercc3 mouse models; 1 with human ERCC3 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 4 genetic backgrounds
    20 phenotypes from multigenic genotypes
    8 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.
Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation.
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 13872 NCBI Gene Model | MGI Sequence Detail 29848 C57BL/6J ±  kb
    transcript NM_133658 RefSeq | MGI Sequence Detail 2695 C57BL/6  
    polypeptide P49135 UniProt | EBI | MGI Sequence Detail 783 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 88
      Genomic 6
      cDNA 82

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9577, MGD-MRK-9580
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 7
      Phenotypes 8
    • Earliest
      J:1626 Weeda G, et al., Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne's syndrome. Carcinogenesis. 1991 Dec;12(12):2361-8
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    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