About   Help   FAQ
Gjc2 Gene Detail
Summary
  • Symbol
    Gjc2
  • Name
    gap junction protein, gamma 2
  • Synonyms
    B230382L12Rik, connexin 47, Cx47, Gja12
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153060
    NCBI Gene: 118454
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:59066394-59074039 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 37.05 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    304 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153060
 protein coding gene Chr11:59066390-59074039 (-)
129S1/SvImJ ENSMUSG00200033697
 protein coding gene Chr11:56074012-56081693 (-)
A/J ENSMUSG00195031979
 protein coding gene Chr11:56002386-56010069 (-)
AKR/J ENSMUSG00220047216
 protein coding gene Chr11:56170726-56178409 (-)
BALB/cJ ENSMUSG00180041922
 protein coding gene Chr11:56090248-56097932 (-)
C3H/HeJ ENSMUSG00175037492
 protein coding gene Chr11:56037561-56045243 (-)
C57BL/6NJ ENSMUSG00215038638
 protein coding gene Chr11:55857313-55864958 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016426
 protein coding gene Chr11:53991026-53998680 (-)
CAST/EiJ ENSTCUG00005045724
 protein coding gene Chr11:55581294-55588988 (-)
CBA/J ENSMUSG00210033261
 protein coding gene Chr11:55888942-55896624 (-)
DBA/2J ENSMUSG00185036494
 protein coding gene Chr11:56073893-56081576 (-)
FVB/NJ ENSMUSG00205041456
 protein coding gene Chr11:55942587-55950273 (-)
JF1/MsJ ENSUMUG00000008361
 protein coding gene Chr11:56420387-56428032 (-)
LP/J ENSMUSG00230050128
 protein coding gene Chr11:57281669-57289361 (-)
NOD/ShiLtJ ENSMUSG00190050693
 protein coding gene Chr11:56143491-56151174 (-)
NZO/HlLtJ ENSMUSG00225031120
 protein coding gene Chr11:59280897-59288591 (-)
PWK/PhJ ENSLUMG00010033960
 protein coding gene Chr11:55888237-55895891 (-)
SPRET/EiJ ENSMSPG00010036942
 protein coding gene Chr11:56662147-56669807 (-)
WSB/EiJ ENSIUOG00005030553
 protein coding gene Chr11:55941339-55949037 (-)



Homology
more
  • Human Ortholog
    GJC2, gap junction protein gamma 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJC2, gap junction protein gamma 2
  • Synonyms
    CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
  • Links
    NCBI Gene ID: 57165
    UniProt: Q5T442

  • Chr Location
    1q42.13; chr1:228149930-228159826 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gjc2 mouse models; 4 with human GJC2 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 3 genetic backgrounds
    21 phenotypes from multigenic genotypes
    4 images
    29 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 null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    9
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
    664
  • Tissues
    49
  • cDNA Data
    11
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000043448 Ensembl Gene Model | MGI Sequence Detail 7646 C57BL/6J ±  kb
    transcript ENSMUST00000108793 Ensembl | MGI Sequence Detail 2187 Not Applicable  
    polypeptide ENSMUSP00000104421 Ensembl | MGI Sequence Detail 440 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      Genomic 2
      cDNA 11
      Primer pair 4
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2444935
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 9
      Phenotypes 29
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory