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FLASH GENE
Symbol GJC2 contributors: mct - updated : 14-09-2015
HGNC name gap junction protein, gamma 2, 47kDa
HGNC id 17494
EXPRESSION
Rna function brain, spinal cord and neurons
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestine   
Lymphoid/Immunelymphatic vessel   highly
Reproductivefemale systemovary   
 female systemuteruscervix  
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
Nervousoligodendrocyte Homo sapiens
Nervousoptic nerve
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye lens, anterior segment, optic nerve, retina, RPE, choroid
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four membrane spanning alpha helices
  • N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain
  • HOMOLOGY
    interspecies homolog to murine Gja12
    Homologene
    FAMILY
  • connexin family
  • gamma-type subfamily
  • CATEGORY structural protein , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,gap
    basic FUNCTION
  • having connexon channel activity, and involved in cell communication
  • playing a key role in central myelination and is and is involved in peripheral myelination in humans
  • functional role of GJC2 and GJB6 for interastrocytic, interoligodendrocytic, and panglial coupling, and both connexins are required for maintenance of myelin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling
    a component
  • monomer constituent of the connexon (six subunits), docking with its counterpart in the neighboring cell to form the gap junction channel
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMLD1 , LMPH1C , SPG44
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target manipulation of gap-junction-coordinated lymphatic flow and function as a possible therapeutic option for primary lymphedema
    ANIMAL & CELL MODELS