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FLASH GENE
Symbol PCDH17 contributors: mct - updated : 21-04-2020
HGNC name protocadherin 17
HGNC id 14267
Location 13q21.1      Physical location : 58.205.788 - 58.303.065
Synonym name protocadherin 68
Synonym symbol(s) PCH68, PCDH68
DNA
TYPE functioning gene
STRUCTURE 99.21 kb     4 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
4 - 8300 - 1159 - 2018 29991130
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
 vessel    
Lymphoid/Immunespleen    
Nervousbraindiencephalonamygdala   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • six extracellular cadherin domains
  • a transmembrane domain encoded by a large unique exon and a cytoplasmic tail
    • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    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 specificty of the neuronal connections
  • may play specific roles in the establishment of selective synaptic connections of specific modality of cerebral cortex with other communicating brain regions such as the thalamus
  • play likely roles in the wiring of neural circuit formation and maintenance through its adhesive and regulatory mechanism
  • PCDH8, PCDH9, PCDH17 and PCDH20 genes are located around 13q21.1 and might be broadly involved in tumor suppression in a variety of tumors
  • critical role for PCDH17 in the synaptic development of specific corticobasal ganglia circuits, suggesting the involvement of PCDH17 in such circuits in depressive behaviors
  • mediates collective axon extension by recruiting actin regulator complexes to interaxonal contacts
  • functions as a tumor suppressor inhibiting Wnt/CTNNB1 signaling and metastasis in breast cancer
  • PCDH17 plays a tumor suppressor role in nasopharyngeal carcinoma (NPC)
  • functions as a common tumor suppressor gene in leukemic cells, and histone deacetylase inhibitors re-express PCDH17 mRNA to a greater extent than demethylation reagents
    • 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,
    calcium Ca2+
    protein
    cell & other cell cellhomophilic interaction
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    silenced by DNA methylation in acute myeloid leukemia (AML)
    tumoral     --low  
    by aberrant methylation of PCDH17 gene in high-grade serous ovarian carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • PCDH17 methylation may be a tumor-specific event and can be used as an epigenetic biomarker for nasopharyngeal carcinoma (NPC)
  • PCDH17 methylation in serum is a frequent event in Renal Cell Carcinoma and associated with risk factors of poor outcomes
  • PCDH17 methylation at diagnosis was closely related to poor prognosis and thus could be used as a new biomarker to predict relapse in patients with B-cell precursor (BCP) acute lymphoblastic leukemia (ALL)
  • detection of PCDH17 promoter methylation in serum-derived DNA may be a convenient and noninvasive predictive biomarker in routine clinical practice
    • Therapy target
    ANIMAL & CELL MODELS