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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:57098602-57104702 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 30.10 cM, cytoband D1-E1
  • Mapping Data
    12 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    55 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95720
protein coding gene Chr14:57098600-57104702 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021402
protein coding gene Chr14:51255660-51261744 (-)
A/J MGP_AJ_G0021363
protein coding gene Chr14:50253022-50259048 (-)
AKR/J MGP_AKRJ_G0021338
protein coding gene Chr14:52016168-52022185 (-)
BALB/cJ MGP_BALBcJ_G0021366
protein coding gene Chr14:50197592-50203582 (-)
C3H/HeJ MGP_C3HHeJ_G0021145
protein coding gene Chr14:51663619-51669693 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021805
protein coding gene Chr14:53806816-53812842 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019345
protein coding gene Chr14:48336328-48342429 (-)
CAST/EiJ MGP_CASTEiJ_G0020663
protein coding gene Chr14:48003746-48009810 (-)
CBA/J MGP_CBAJ_G0021112
protein coding gene Chr14:55381131-55390820 (-)
DBA/2J MGP_DBA2J_G0021233
protein coding gene Chr14:49933750-49939765 (-)
FVB/NJ MGP_FVBNJ_G0021214
protein coding gene Chr14:49313558-49319945 (-)
LP/J MGP_LPJ_G0021308
protein coding gene Chr14:52299501-52305523 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021242
protein coding gene Chr14:54765784-54771874 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021829
protein coding gene Chr14:51160796-51166914 (-)
PWK/PhJ MGP_PWKPhJ_G0020406
protein coding gene Chr14:46462503-46468687 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020239
protein coding gene Chr14:47233970-47239957 (-)
WSB/EiJ MGP_WSBEiJ_G0020715
protein coding gene Chr14:51486415-51492424 (-)



Homology
more
  • Human Ortholog
    GJB2, gap junction protein beta 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    GJB2, gap junction protein beta 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
  • Links
    NCBI Gene ID: 2706
    neXtProt AC: NX_P29033
    UniProt: P29033

  • Chr Location
    13q12.11; chr13:20187463-20192975 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Gjb2 mouse models; 4 with human GJB2 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 9 alleles in 12 genetic backgrounds
    19 phenotypes from multigenic genotypes
    2 images
    43 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.
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
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 population 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 14619 NCBI Gene Model | MGI Sequence Detail 6101 C57BL/6J ±  kb
    transcript NM_008125 RefSeq | MGI Sequence Detail 2404 C57BL/6  
    polypeptide Q00977 UniProt | EBI | MGI Sequence Detail 226 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 119
      Genomic 6
      cDNA 107
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10092, MGD-MRK-10097, MGI:2145620
    References
    more
    • Summaries
      All 173
      Developmental Gene Expression 59
      Diseases 4
      Gene Ontology 7
      Phenotypes 43
    • 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:263025 Zoupa M, et al., Gene expression profiling in the developing secondary palate in the absence of Tbx1 function. BMC Genomics. 2018 Jun 4;19(1):429

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory