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FLASH GENE
Symbol PCDH19 contributors: mct/npt - updated : 19-11-2019
HGNC name protocadherin 19
HGNC id 14270
DNA
TYPE functioning gene
STRUCTURE 118.63 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 9615 - 1101 - 2019 30431232
5 - 9612 - 1100 - 2019 30431232
6 - 9756 - 1148 - 2019 30431232
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrainlimbic systemhippocampus highly Mus musculus
 braindiencephalonamygdala   Mus musculus
 braindiencephalonhypothalamus   Mus musculus
Reproductivefemale systemuterus  highly
Respiratoryrespiratory tracttrachea   
cell lineage
cell lines
fluid/secretion
at STAGE
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