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Gjb2 Gene Detail
Summary
  • Symbol
    Gjb2
  • Name
    gap junction protein, beta 2
  • Synonyms
    connexin 26, Cx26, Gjb-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:95720
    NCBI Gene: 14619
  • Gene Overview
    MyGene.info: GJB2
Location & Maps
more
  • Sequence Map
    Chr14:57098600-57104702 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6103 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GJB2, gap junction protein beta 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    GJB2, gap junction protein beta 2
    Orthology source: HomoloGene
  • Synonyms
    CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
  • Links
    NCBI Gene ID: 2706
    neXtProt AC: NX_P29033

  • Chr Location
    13q11-q12; chr13:20187463-20192975 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Gjb2 mouse models; 8 with human GJB2 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 1A; DFNB1A   OMIM: 220290 View 2 models
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant   OMIM: 148210 View 2 models
       Deafness, Autosomal Dominant 3A; DFNA3A   OMIM: 601544
Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes   OMIM: 124500
Deafness, X-Linked 2; DFNX2   OMIM: 304400
Ichthyosis, Hystrix-Like, with Deafness   OMIM: 602540
Keratoderma, Palmoplantar, with Deafness   OMIM: 148350
Knuckle Pads, Leukonychia, and Sensorineural Deafness   OMIM: 149200
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 9 alleles in 12 genetic backgrounds
    18 phenotypes from multigenic genotypes
    2 images
    35 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
    17
  • Chemically induced (ENU)
    3
  • Chemically induced (other)
    1
  • Targeted
    11
  • Transgenic
    2
  • Genomic Mutations
    1 involving Gjb2
  • Incidental Mutations
    APF
Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells.
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 OTTMUSG00000034674 VEGA Gene Model | MGI Sequence Detail 6103 C57BL/6J ±  kb
transcript OTTMUST00000088021 VEGA | MGI Sequence Detail 2406 Not Applicable  
polypeptide OTTMUSP00000047951 VEGA | MGI Sequence Detail 226 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    55 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 118
    Genomic 6
    cDNA 106
    Primer pair 5
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10092, MGD-MRK-10097, MGI:2145620
References
more
  • Summaries
    All 141
    Developmental Gene Expression 55
    Diseases 7
    Gene Ontology 6
    Phenotypes 35
  • Earliest
    J:11099 Hsieh CL, et al., Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Somat Cell Mol Genet. 1991 Mar;17(2):191-200
  • Latest
    J:229983 Garcia IE, et al., From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. J Invest Dermatol. 2016 Mar;136(3):574-83

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
04/26/2016
MGI 6.03
The Jackson Laboratory