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FLASH GENE
Symbol GJC2 contributors: mct - updated : 14-09-2013
HGNC name gap junction protein, gamma 2, 47kDa
HGNC id 17494
Corresponding disease
LMPH1C lymphedema, hereditary, IC
PMLD1 Pelizaeus-Merzbacher-like disease 1
SPG44 spastic paraplegia 44
Location 1q42.13      Physical location : 228.337.552 - 228.347.525
Synonym name
  • gap junction protein, alpha 12, 47kDa
  • connexin 47
  • connexin46.6
  • Synonym symbol(s) Cx47, CX46.6, PMLDAR, GJA12, MGC105119, SPG44, HLD2
    DNA
    TYPE functioning gene
    STRUCTURE 9.97 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D1S1837E - D1S174E - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2259 47 439 - 2003 12805295
    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