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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:32373357-32403206 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr18:32373353-32403206 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERCC3, ERCC excision repair 3, TFIIH core complex helicase subunit
  • Synonyms
    BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB
  • Links
    NCBI Gene ID: 2071
    neXtProt AC: NX_P19447
    UniProt: P19447

  • Chr Location
    2q14.3; chr2:127257290-127294166 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ercc3 mouse models; 5 with human ERCC3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
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
    15 phenotypes from 4 alleles in 4 genetic backgrounds
    20 phenotypes from multigenic genotypes
    9 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
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
neoplasm
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
    47
  • GO References
    9
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    771
  • Tissues
    55
  • cDNA Data
    83
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13872 NCBI Gene Model | MGI Sequence Detail 29850 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 89
      Genomic 6
      cDNA 83

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9577, MGD-MRK-9580
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 9
      Phenotypes 9
    • 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    04/16/2024
    MGI 6.23     		The Jackson Laboratory