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Gjb3 Gene Detail
Summary
  • Symbol
    Gjb3
  • Name
    gap junction protein, beta 3
  • Synonyms
    Cnx31, connexin 31, Cx31, D4Wsu144e, Gjb-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:95721
    NCBI Gene: 14620
Location & Maps
more
  • Sequence Map
    Chr4:127325235-127330844 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5610 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GJB3, gap junction protein beta 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GJB3, gap junction protein beta 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CX31, DFNA2, DFNA2B, EKV
  • Links
    NCBI Gene ID: 2707
    neXtProt AC: NX_O75712

  • Chr Location
    1p34; chr1:34781189-34786366 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 7338
    1 human;1 mouse;1 rat;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: GJB3
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Gjb3 mouse models; 4 with human GJB3 associations

Human Disease Mouse Models
       Erythrokeratodermia Variabilis Et Progressiva; EKVP   OMIM: 133200 View 1 model
       Deafness, Autosomal Dominant 2A; DFNA2A   OMIM: 600101
       Deafness, Autosomal Dominant 2B; DFNA2B   OMIM: 612644
Deafness, Autosomal Recessive 1A; DFNB1A   OMIM: 220290
Gap Junction Protein, Beta-3; GJB3   OMIM: 603324
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 3 genetic backgrounds
    17 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.
  • All Mutations and Alleles
    122
  • Chemically induced (other)
    2
  • Gene trapped
    113
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    4 involving Gjb3
  • Incidental Mutations
Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation.
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 OTTMUSG00000009382 VEGA Gene Model | MGI Sequence Detail 5610 C57BL/6J ±  kb
transcript OTTMUST00000021361 VEGA | MGI Sequence Detail 1623 Not Applicable  
polypeptide OTTMUSP00000009769 VEGA | MGI Sequence Detail 270 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    46 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 69
    cDNA 63
    Primer pair 5
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-10093, MGD-MRK-10098, MGD-MRK-35792, MGI:107326
References
more
  • Summaries
    All 67
    Developmental Gene Expression 21
    Diseases 2
    Gene Ontology 7
    Phenotypes 17
  • Earliest
    J:858 Willecke K, et al., The diversity of connexin genes encoding gap junctional proteins. Eur J Cell Biol. 1991 Oct;56(1):1-7
  • Latest
    J:226184 Tang C, et al., Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism. Hum Mol Genet. 2015 Nov 1;24(21):6054-65

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
01/26/2016
MGI 6.02
The Jackson Laboratory