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FLASH GENE
Symbol PCDH10 contributors: mct/npt/pgu - updated : 28-05-2019
HGNC name protocadherin 10
HGNC id 13404
Location 4q28.3      Physical location : 134.070.469 - 134.112.731
Synonym name ortholog of OL-pcdh
Synonym symbol(s) KIAA1400, OL-PCDH, PCDH19, MGC133344, DKFZp761O2023
DNA
TYPE functioning gene
STRUCTURE 42.26 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure
  • Sp1/Sp3 and CBF/NF-Y transcription factors play a crucial role in the basal expression of the human PCDH10
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 5384 110 1040 - 2000 10718198
    1 splicing 3935 99 896 brain 2000 10718198
    isoform with a unique cytoplasmic tail
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Respiratoryrespiratory tracttrachea  moderately
    Urinarykidney    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal signal peptide
  • six extracellular cadherin domains
  • a transmembrane domain encoded by a large single exon
  • a C terminal cytoplasmic tail
  • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Pcdh10 protocadherin 10
    intraspecies homolog to cadherin
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • protocadherin subfamily
  • CATEGORY adhesion , tumor suppressor , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text integral plasma membrane, localized at the synaptic junction
    basic FUNCTION
  • cadherin-related neuronal receptor, putatively involved in the specificity of neuronal connections
  • essential for both elongation of striatal axons and patterning of the putative guidance cues for thalamocortical projections
  • cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain
  • PCDH10 is involved in angiogenesis and methylation correlated with multiple myeloma
  • PCDH10 is primarily required for linking ubiquitinated DLG4 to the proteasomal machinery
  • distinct roles for MEF2A, PCDH10 and FMR1 in regulated degradation of DLG4 and synapse elimination, suggesting a common deficit in activity-dependent synapse elimination among different genetic causes of autism
  • exhibits inhibitory roles in cancer cell motility and cell migration
  • adhesion molecule found to protect against tumorigenesis and essential for axonal elongation and actin dynamics during development
  • may influence subcellular actin cytoskeletal organization and axon-axon interactions in the course of familial amyloidotic polyneuropathy
  • CELLULAR PROCESS cell organization/biogenesis
    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
  • MEF2A and FMR1 cooperatively regulate the expression of PCDH10
  • PCDH10 is required for MEF2A-induced synapse elimination and functions to deliver ubiquitinated DLG4, a critical synaptic scaffolding molecule to the proteasome
  • transcriptional target of TP53
  • potentially important role of TP53 in regulating tumor cell migration through activating PCDH10 expression
  • cell & other
  • cells cell homophiic interaction
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in nasopharyngeal, esophageal and multiple other carcinomas with frequent methylation
    tumoral       loss of function
    inactivation may be a critical event in cervical cancer progression
    tumoral     --low  
    by promoter methylation in diffuse large B-cell lymphoma (DLBCL) but not in normal lymph nodes, suggesting that its epigenetic aberrance is essential to the lymphomagenesis
    tumoral     --low  
    in hepatocellular carcinoma, closely associated with poor prognosis of HCC patients
    constitutional     --over  
    in transthyretin-related familial amyloidotic polyneuropathy
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene PCDH10 methylation is frequently involved in lymphomagenesis and could serve as a tumour-specific biomarker
    Marker
  • valuable biomarker for HCC
  • genetic deletion of PCDH10 represents an adverse prognostic marker for the survival of patients with CRC
  • Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveuterus
    potentially useful therapeutic target for cervical cancer
    cancerhemopathy 
    potential therapeutic target for demethylating drugs in diffuse large B-cell lymphoma (DLBCL)in the future
    cancerdigestiveliver
    restoration of PCDH10 could be a valuable therapeutic target for HCC
    cancerbrainglioma/neuroblstoma
    may be a promising target for the therapy of glioblastoma
    ANIMAL & CELL MODELS