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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
    genome feature 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
    19
  • 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 ENSMUSG00200037259
 protein coding gene ChrX:82133361-82142612 (+)
A/J ENSMUSG00195036486
 protein coding gene ChrX:85888155-85897406 (+)
AKR/J ENSMUSG00220026112
 protein coding gene ChrX:80578843-80588095 (+)
BALB/cJ ENSMUSG00180037914
 protein coding gene ChrX:82598525-82607776 (+)
C3H/HeJ ENSMUSG00175042241
 protein coding gene ChrX:86258934-86268185 (+)
C57BL/6NJ ENSMUSG00215044635
 protein coding gene ChrX:82789126-82798379 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033286
 protein coding gene ChrX:95639312-95648711 (+)
CAST/EiJ ENSTCUG00005039714
 protein coding gene ChrX:83638228-83647487 (+)
CBA/J ENSMUSG00210040024
 protein coding gene ChrX:83029773-83039024 (+)
DBA/2J ENSMUSG00185041632
 protein coding gene ChrX:95472794-95482047 (+)
FVB/NJ ENSMUSG00205024177
 protein coding gene ChrX:82287414-82296666 (+)
JF1/MsJ ENSUMUG00000030604
 protein coding gene ChrX:116055257-116064419 (+)
LP/J ENSMUSG00230042321
 protein coding gene ChrX:102166899-102176152 (+)
NOD/ShiLtJ ENSMUSG00190034232
 protein coding gene ChrX:82184665-82193916 (+)
NZO/HlLtJ ENSMUSG00225044560
 protein coding gene ChrX:107261169-107270433 (+)
PWK/PhJ ENSLUMG00010037848
 protein coding gene ChrX:81328355-81337534 (+)
SPRET/EiJ ENSMSPG00010034493
 protein coding gene ChrX:85635744-85644959 (+)
WSB/EiJ ENSIUOG00005039717
 protein coding gene ChrX:82720616-82729882 (+)



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
    UniProt: P08034

  • Chr Location
    Xq13.1; chrX:71212811-71225519 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gjb1 mouse models; 1 with human GJB1 associations

Human Disease Mouse Models
      
IDs
 View 9 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 5 alleles in 7 genetic backgrounds
    42 phenotypes from multigenic genotypes
    1 images
    102 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
    17
  • 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
    749
  • 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
      Antibodies 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10091, MGD-MRK-10096, MGI:2147847
    References
    more
    • Summaries
      All 225
      Developmental Gene Expression 35
      Diseases 5
      Gene Ontology 8
      Phenotypes 102
    • 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:390047 Hatton CL, et al., Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases. J Peripher Nerv Syst. 2025 Sep;30(3):e70052
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory