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Gjb6 Gene Detail
Summary
  • Symbol
    Gjb6
  • Name
    gap junction protein, beta 6
  • Synonyms
    connexin 30, Cx30, D14Bwg0506e
  • Feature Type
    protein coding gene
  • IDs
    MGI:107588
    NCBI Gene: 14623
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:57360760-57371068 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 30.10 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    66 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107588
 protein coding gene Chr14:57360758-57371068 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021404
 protein coding gene Chr14:51283414-51295468 (-)
A/J MGP_AJ_G0021365
 protein coding gene Chr14:50278436-50289233 (-)
AKR/J MGP_AKRJ_G0021340
 protein coding gene Chr14:52044947-52056332 (-)
BALB/cJ MGP_BALBcJ_G0021368
 protein coding gene Chr14:50223222-50233524 (-)
C3H/HeJ MGP_C3HHeJ_G0021147
 protein coding gene Chr14:51694339-51705744 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021807
 protein coding gene Chr14:53832652-53844268 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019347
 protein coding gene Chr14:48361690-48372051 (-)
CAST/EiJ MGP_CASTEiJ_G0020665
 protein coding gene Chr14:48034485-48044793 (-)
CBA/J MGP_CBAJ_G0021114
 protein coding gene Chr14:55410757-55427933 (-)
DBA/2J MGP_DBA2J_G0021235
 protein coding gene Chr14:49961530-49971825 (-)
FVB/NJ MGP_FVBNJ_G0021216
 protein coding gene Chr14:49342317-49352624 (-)
LP/J MGP_LPJ_G0021310
 protein coding gene Chr14:52325508-52343185 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021244
 protein coding gene Chr14:54792907-54803300 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021831
 protein coding gene Chr14:51187370-51199484 (-)
PWK/PhJ MGP_PWKPhJ_G0020408
 protein coding gene Chr14:46487426-46498272 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020241
 protein coding gene Chr14:47259016-47269324 (-)
WSB/EiJ MGP_WSBEiJ_G0020717
 protein coding gene Chr14:51515127-51526858 (-)



Homology
more
  • Human Ortholog
    GJB6, gap junction protein beta 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJB6, gap junction protein beta 6
  • Synonyms
    CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
  • Links
    NCBI Gene ID: 10804
    neXtProt AC: NX_O95452
    UniProt: O95452

  • Chr Location
    13q12.11; chr13:20221962-20232365 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Gjb6 mouse models; 5 with human GJB6 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
      
IDs
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
    32 phenotypes from 4 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    87 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 one targeted mutation are viable and fertile but display progressive hearing loss, with severe degeneration of the auditory hair cells and loss of the endocochlear potential. Mice homozygous for a second allele display normal hearing.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    10
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
    729
  • Tissues
    19
  • cDNA Data
    8
  • Literature Summary
    20
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040055 Ensembl Gene Model | MGI Sequence Detail 10309 C57BL/6J ±  kb
    transcript ENSMUST00000039380 Ensembl | MGI Sequence Detail 2105 Not Applicable  
    polypeptide ENSMUSP00000035630 Ensembl | MGI Sequence Detail 261 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 1
      cDNA 8
      Primer pair 3
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-34016, MGD-MRK-36160, MGI:106324, MGI:2145583
    References
    more
    • Summaries
      All 144
      Developmental Gene Expression 20
      Diseases 4
      Gene Ontology 10
      Phenotypes 87
    • Earliest
      J:34343 Dahl E, et al., Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin. J Biol Chem. 1996 Jul 26;271(30):17903-10
    • Latest
      J:346440 Pelz L, et al., The IgCAM BT-IgSF (IgSF11) is essential for connexin43-mediated astrocyte-astrocyte coupling in mice. eNeuro. 2024 Feb 22;11(3):ENEURO.0283-23.2024
    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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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory