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
  • Gene Overview
    MyGene.info: GJC2
Location & Maps
more
  • Sequence Map
    Chr11:59175568-59183213 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7646 bp   ±  kb flank

  • Genome Browsers
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

  • Chr Location
    1q42.13; chr1:228149714-228159826 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gjc2 mouse models; 3 with human GJC2 associations

Human Disease Mouse Models
       Leukodystrophy, Hypomyelinating, 2; HLD2   OMIM: 608804 View 3 models
       Lymphedema, Hereditary, Ic; LMPH1C   OMIM: 613480
Spastic Paraplegia 44, Autosomal Recessive; SPG44   OMIM: 613206
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
    20 phenotypes from multigenic genotypes
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Gjc2
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005785 VEGA Gene Model | MGI Sequence Detail 7646 C57BL/6J ±  kb
transcript OTTMUST00000012806 VEGA | MGI Sequence Detail 2169 Not Applicable  
polypeptide OTTMUSP00000005950 VEGA | MGI Sequence Detail 440 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    140 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    Genomic 1
    cDNA 10
    Primer pair 2
    Other 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:2444935
References
more
  • Summaries
    All 41
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 4
    Phenotypes 16
  • Earliest
    J:70957 Sohl G, et al., The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain development. Biol Chem. 2001 Jun;382(6):973-8
  • Latest
    J:227438 Wasseff SK, et al., Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions. Neurobiol Dis. 2015 Oct;82:86-98

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory