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FLASH GENE
Symbol PTPRD contributors: mct/npt/pgu - updated : 29-10-2016
HGNC name protein tyrosine phosphatase, receptor type, D
HGNC id 9668
Corresponding disease
RLLS3 restless legs syndrome 3
Location 9p23      Physical location : 8.314.246 - 10.612.723
Synonym name
  • protein tyrosine phosphatase delta
  • protein tyrosine phosphatase, receptor type, delta
    • polypeptide
    Synonym symbol(s) HPTPD, HPTP, PTPD, HPTP-DELTA, MGC119750, MGC119751, MGC119752, R-PTP-DELTA, MGC119753, R-PTP-delta
    EC.number 3.1.3.48
    DNA
    TYPE functioning gene
    STRUCTURE 2298.26 kb     45 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text several transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    42 - 10039 - 1899 - 2008 18050303
    42 - 10078 - 1912 - 2008 18050303
    41 - 10051 - 1903 - 2008 18050303
    40 - 8845 - 1501 - 2008 18050303
    40 - 8848 - 1502 - 2008 18050303
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumearinner  highly Homo sapiens
    Nervousbrain   highly Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text highly expressed in the developing mammalian nervous system
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight fibronectin type 3 domains
  • three immunoglobulin-like C2 type domains extracellular
  • one transmembrane segment (TM1)
  • two protein tyrosine phosphatase catalytic domains
  • a cytoplasmic tyrosine phosphatase domain
    • HOMOLOGY
    interspecies homolog to murine Ptprd
    Homologene
    FAMILY
  • LAR family of protein
  • LAR-RPTP subfamily
    • CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a role in promoting neurite growth, and regulating neurons axon guidance
  • PTPRD, PTPRS regulate neuroendocrine development, axonal regeneration, and hippocampal long-term potentiation
  • PTPRD and PTPRS complement each other functionally during mammalian development, and have an essential contribution to appropriate motoneuron axon targeting during axonogenesis
  • dephosphorylate the oncoprotein STAT3
  • tumor suppressor that is involved in the development of glioblastoma and multiple cancers
  • may have little developmental function in early adrenal neuroblasts
  • has a tumor suppressor function in neuroblastoma through AURKA dephosphorylation and destabilization and a downstream destabilization of MYCN protein
  • PTPRS, PTPRD, PTPRF participate in several brain functions
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of the IL1RAPL1 family of proteins with PTPRD and ARHGAP22 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling that regulates excitatory synapse and dendritic spine formation
  • SLITRK3-PTPRD is an inhibitory-specific trans-synaptic organizing complex that is required for normal functional GABAergic synapse development
  • interacts with aurora kinase A (AURKA), an oncogenic protein that is over-expressed in multiple forms of cancer, including neuroblastoma
  • SLITRK1, SLITRK2, SLITK3, SLITRK4, SLITRK5 and SLITRK6 appeared to interact with both PTPRD and PTPRS
  • mediates excitatory synapse formation through trans-synaptic interaction with PTPRD
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RLLS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in lung carcinoma, in neuroblastoma and cutaneous squamous cell carcinomas with metastases
    tumoral   deletion --low  
    expressed at lower levels in high stage neuroblastoma tumors, particularly those with amplification of MYCN, relative to low stage tumors or normal fetal adrenal neuroblasts
    tumoral       loss of function
    in glioblastoma multiforme (GBM), a deadly primary neoplasm of the brain
    tumoral     --low  
    in lung cancers
    tumoral   deletion    
    in metastatic cutaneous squamous cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS