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FLASH GENE
Symbol PCDH19 contributors: mct/npt - updated : 19-11-2019
HGNC name protocadherin 19
HGNC id 14270
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal sequence,
  • a transmembrane domain and a cytoplasmic region with conserved CM1 and CM2 domains
  • six extracellular cadherin domains
  • a cytoplasmic tail
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Pcdh19 protocadherin 19
    intraspecies homolog to cadherin
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • protocadherin subfamily
  • CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,nuclear envelope,int
    text integral plasma membrane, putatively localized at the synaptic junction
    basic FUNCTION
  • cadherin-related neuronal receptor, putatively involved in the specificity of neuronal connections
  • PCDH19 and CDH2 function together to regulate cell adhesion and to mediate morphogenetic movements during brain development
  • has likely a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain
  • role of PCDH19 in determining cell adhesion affinities during cortical development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text
  • playing a putative role in cell-cell interactions critical in the development of the central nervous system, mediating adhesion in synaptic junctions through lack-in process
  • PATHWAY
    metabolism
    signaling signal transduction
    cell-cell signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • adhesion by the PCDH19-CDH2 complex was unaffected by mutations that disrupt CDH2 homophilic binding but was inhibited by a mutation in PCDH19
  • EOMES coordinates likely neurogenesis expansion and precise microcircuit assembly via PCDH19 in the mammalian cortex
  • cell & other
  • cell cell homophilic interaction
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EFMR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS