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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
  • Gene Overview
    MyGene.info: GJC2
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:59175568-59183213 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.05 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    140 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153060
protein coding gene Chr11:59175564-59183213 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018389
protein coding gene Chr11:58982857-58990540 (-)
A/J MGP_AJ_G0018358
protein coding gene Chr11:56724403-56736686 (-)
AKR/J MGP_AKRJ_G0018328
protein coding gene Chr11:58633855-58641511 (-)
BALB/cJ MGP_BALBcJ_G0018329
protein coding gene Chr11:57091547-57099226 (-)
C3H/HeJ MGP_C3HHeJ_G0018142
protein coding gene Chr11:58517778-58525468 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018781
protein coding gene Chr11:60864918-60872563 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016426
protein coding gene Chr11:53991026-53998680 (-)
CAST/EiJ MGP_CASTEiJ_G0017700
protein coding gene Chr11:58633432-58641126 (-)
CBA/J MGP_CBAJ_G0018116
protein coding gene Chr11:63511752-63522359 (-)
DBA/2J MGP_DBA2J_G0018225
protein coding gene Chr11:56410594-56418279 (-)
FVB/NJ MGP_FVBNJ_G0018216
protein coding gene Chr11:56052341-56060024 (-)
LP/J MGP_LPJ_G0018298
protein coding gene Chr11:59587365-59595459 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018240
protein coding gene Chr11:64664685-64672375 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018822
protein coding gene Chr11:58651609-58660384 (-)
PWK/PhJ MGP_PWKPhJ_G0017470
protein coding gene Chr11:56990052-56997706 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017263
protein coding gene Chr11:58449794-58457454 (-)
WSB/EiJ MGP_WSBEiJ_G0017750
protein coding gene Chr11:58340959-58350111 (-)



Homology
more
  • Human Ortholog
    GJC2, gap junction protein gamma 2
  • Vertebrate Orthologs
    7
  • Human Ortholog
    GJC2, gap junction protein gamma 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44
  • Links
    NCBI Gene ID: 57165
    neXtProt AC: NX_Q5T442
    UniProt: Q5T442

  • Chr Location
    1q42.13; chr1:228149714-228159826 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Gjc2 mouse models; 2 with human GJC2 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
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
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  • Phenotype Summary
    15 phenotypes from 3 alleles in 3 genetic backgrounds
    20 phenotypes from multigenic genotypes
    19 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.
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
  • 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 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 15
      Genomic 1
      cDNA 11
      Primer pair 2
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2444935
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 6
      Phenotypes 19
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:245161 Meens MJ, et al., Cx47 fine-tunes the handling of serum lipids but is dispensable for lymphatic vascular function. PLoS One. 2017;12(7):e0181476

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory