Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GJC2 contributors: mct - updated : 14-09-2015
HGNC name gap junction protein, gamma 2, 47kDa
HGNC id 17494
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