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Gjb1 Gene Detail
Summary
  • Symbol
    Gjb1
  • Name
    gap junction protein, beta 1
  • Synonyms
    connexin 32, connexin-32, Cx32, Gjb-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95719
    NCBI Gene: 14618
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:100419984-100429235 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 44.06 cM, cytoband D-F4
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    175 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95719
 protein coding gene ChrX:100419982-100429235 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035959
 protein coding gene ChrX:97884638-97893889 (+)
A/J MGP_AJ_G0035944
 protein coding gene ChrX:97885181-97894422 (+)
AKR/J MGP_AKRJ_G0035860
 protein coding gene ChrX:100695713-100705138 (+)
BALB/cJ MGP_BALBcJ_G0035927
 protein coding gene ChrX:96628805-96638056 (+)
C3H/HeJ MGP_C3HHeJ_G0035636
 protein coding gene ChrX:98287338-98296589 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036456
 protein coding gene ChrX:100787330-100796754 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033286
 protein coding gene ChrX:95639312-95648711 (+)
CAST/EiJ MGP_CASTEiJ_G0034923
 protein coding gene ChrX:82592323-82604437 (+)
CBA/J MGP_CBAJ_G0035611
 protein coding gene ChrX:103906811-103916062 (+)
DBA/2J MGP_DBA2J_G0035765
 protein coding gene ChrX:97098347-97107583 (+)
FVB/NJ MGP_FVBNJ_G0035703
 protein coding gene ChrX:96481144-96490329 (+)
LP/J MGP_LPJ_G0035855
 protein coding gene ChrX:98840675-98849921 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035738
 protein coding gene ChrX:108460296-108470665 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036483
 protein coding gene ChrX:97577439-97586876 (+)
PWK/PhJ MGP_PWKPhJ_G0034622
 protein coding gene ChrX:80197509-80207086 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034450
 protein coding gene ChrX:83499274-83508670 (+)
WSB/EiJ MGP_WSBEiJ_G0035062
 protein coding gene ChrX:96278260-96287526 (+)



Homology
more
  • Human Ortholog
    GJB1, gap junction protein beta 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJB1, gap junction protein beta 1
  • Synonyms
    CMTX, CMTX1, CX32
  • Links
    NCBI Gene ID: 2705
    neXtProt AC: NX_P08034
    UniProt: P08034

  • Chr Location
    Xq13.1; chrX:71212811-71225516 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gjb1 mouse models; 1 with human GJB1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 2 genetic backgrounds
    42 phenotypes from multigenic genotypes
    1 images
    95 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.
Homozygotes for a targeted null mutation exhibit a modest decrease in body weight, enhanced neuronal sensitivity to ischemic insults, and increased susceptibility to both spontaneous and chemically-induced liver tumors.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    8
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
membraneless 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
    858
  • Tissues
    85
  • cDNA Data
    130
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047797 Ensembl Gene Model | MGI Sequence Detail 9252 C57BL/6J ±  kb
    transcript ENSMUST00000119190 Ensembl | MGI Sequence Detail 1585 Not Applicable  
    polypeptide ENSMUSP00000113516 Ensembl | MGI Sequence Detail 283 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 140
      Genomic 3
      cDNA 131
      Primer pair 4
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10091, MGD-MRK-10096, MGI:2147847
    References
    more
    • Summaries
      All 217
      Developmental Gene Expression 35
      Diseases 3
      Gene Ontology 8
      Phenotypes 95
    • Earliest
      J:11073 Willecke K, et al., Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990 Dec;53(2):275-80
    • Latest
      J:346801 Chen L, et al., Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury. Cell Commun Signal. 2024 Feb 12;22(1):121
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory