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FLASH GENE
Symbol PTPRO contributors: mct - updated : 01-10-2013
HGNC name protein tyrosine phosphatase, receptor type, O
HGNC id 9678
Corresponding disease
NPHS6 nephrotic syndrome type 6
Location 12p12.3      Physical location : 15.475.486 - 15.750.335
Synonym name
  • phosphotyrosine phosphatase U2
  • glomerular epithelial protein-1
  • protein tyrosine phosphatase PTP-U2
  • Synonym symbol(s) PTPU2, GLEPP1, NPHS6, PTP-OC, PTP-U2, PTPROT, R-PTP-O
    EC.number 3.1.3.48
    DNA
    TYPE functioning gene
    STRUCTURE 276.07 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    ATF7IP 12p13.31 activating transcription factor 7 interacting protein FLJ22662 12p13.2 hypothetical protein FLJ22662 GUCY2C 12p12 guanylate cyclase 2C (heat stable enterotoxin receptor) HIST4H4 12p13.1 histone 4, H4 H2AFJ 12p12 H2A histone family, member J WBP11 12p13.1 WW domain binding protein 11 MGC47869 12p13.1 hypothetical protein MGC47869 LOC387843 12 hypothetical gene supported by AK092637 DO 12q13.2-q13.3 Dombrock blood group MGP 12p13-p12 matrix Gla protein FLJ32115 12p13.1 hypothetical protein FLJ32115 ARHGDIB 12p12.3 Rho GDP dissociation inhibitor (GDI) beta PDE6H 12p13 phosphodiesterase 6H, cGMP-specific, cone, gamma RERG 12p13.31 RAS-like, estrogen-regulated, growth-inhibitor LOC387844 12 hypothetical gene supported by AK093218 PTPRO 12p13-p12 protein tyrosine phosphatase, receptor type, O EPS8 12p12 epidermal growth factor receptor pathway substrate 8 MRPS7P2 12p13.1 mitochondrial ribosomal protein S7 pseudogene 2 CGI-26 12p13.1 CGI-26 protein UNRIP 12q11-q12 CGI-26 protein MGST1 12p1.2-p13.1 microsomal glutathione S-transferase 1 LOC338819 12p13.1 similar to chromatin-specific transcription elongation factor large subunit LOC121520 12p13.1 similar to Aspartate aminotransferase, mitochondrial precursor (Transaminase A) (Glutamate oxaloacetate transaminase-2)
    RNA
    TRANSCRIPTS type messenger
    text six variants, four isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 6379 - 1216 renal glomerulus,brain 1995 7665166
    26 - 6295 200 1188 renal glomerulus,brain 1995 7665166
    14 - 5002 - 405 B-lymhpoid organs 1995 7665166
    13 - 4918 - 377 B-lymphoid organs, macrophages 2011 22001392
  • truncated isoform
  • down-regulated in chronic lymphocytic leukemia (CLL)
  • 14 - 3986 - 377 B-lymphoid organs 1995 7665166
    15 - 3970 - 405 B-lymphoid organs 1995 7665166
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain     Mus musculusFetal
     gangliasensory gangliadorsal root   Mus musculusAdult
    Olfactory (smell)olfactory bulb   highly Mus musculusAdult
    Respiratorylung    
    Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarypodocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a single catalytic domain in its cytoplasmic region
  • multiple fibronectin type III-like domains in its extracellular region
  • a hydrophobic transmembrane (TM)
  • a single intracellular tyrosine phosphatase domain
  • HOMOLOGY
    intraspecies homolog to PTPU2-LSB from glomerular epithelial podocyte membrane protein
    Homologene
    FAMILY PTPR family
    CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text Type I membrane protein
    basic FUNCTION
  • involved in cellular differentiation processes
  • may be involved in axon guidance both as a ligand and as a neuronal receptor
  • implicated in the guidance of motor and retinal axons
  • required for peptidergic differentiation and process outgrowth of sensory neurons, as well as mature sensory function
  • implicated in axon growth and guidance during embryonic development
  • is a potential target gene of Wnt/CTNNB1 signaling and may function as a novel receptor for WNT
  • role of PTPRO in learning and memory
  • is a novel regulator of mammary epithelial transformation, a potential tumor suppressor, and a predictive biomarker for breast cancer
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • role of TCL1A in PTPROt suppression, important in the pathogenesis ofchronic lymphocytic leukemia (CLL)
  • ERBB2/HER2 is a direct substrate of PTPRO and loss of PTPRO increased ERBB2-induced cell proliferation and transformation, together with tyrosine phosphorylation of ERBB2
  • cell & other
    REGULATION
    induced by Wnt/CTNNB1 signaling in a T cell factor/lymphoid enhancer factor dependent manner
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHS6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in primary lung cancer by hypermethylation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • PTPRO promoter hypermethylation as a potential biomarker in esophageal squamous cell carcinoma (ESCC)
  • PTPRO expression may be a useful marker of podocyte injury in immunoglobulin A nephropathy (IgAN), and may be predictive of clinical and pathological severity
  • Therapy target
    ANIMAL & CELL MODELS
  • in Ptpro mutant mice, subsets of trigeminal ganglion neurons grow longer and more elaborate axonal branches