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FLASH GENE
Symbol PSTPIP2 contributors: mct - updated : 14-01-2015
HGNC name proline-serine-threonine phosphatase interacting protein 2
HGNC id 9581
Corresponding disease
CRMO chronic recurrent multifocal osteomyelitis
Location 18q12.3      Physical location : 43.563.502 - 43.652.250
Synonym name
  • PEST phosphatase-interacting protein 2
  • macrophage actin-associated protein
    • Synonym symbol(s) MAYP, MGC34175, p37
    DNA
    TYPE functioning gene
    STRUCTURE 88.75 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC342732 18q21.1 similar to cytokeratin 8 LOC388475 18 LOC388475 SETBP1 18q21.1 SET binding protein 1 SLC14A2 18q12.1-q21.1 solute carrier family 14 (urea transporter), member 2 SLC14A1 18q12 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) LOC284266 KIAA1632 18q21.1 KIAA1632 protein PSTPIP2 18q12 proline-serine-threonine phosphatase interacting protein 2 ATP5A1 18q12-q21 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle LOC115106 MGC12909 18q21.1 hypothetical protein MGC12909 FLJ34218 18q21.1 hypothetical protein FLJ34218 FLJ32670 18q21.1 hypothetical protein FLJ32670 SIAT8E 18q12.3-q21.1 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) MIZ1 18q12.1-q12.3 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) TCEB3L2 18q12,3 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) TCEB3L 18q21.1 sialyltransferase 8E (alpha-2, 8-polysialyltransferase) DKFZP564D1378 18q21.1 hypothetical protein DKFZp564D1378 HSPC039 18q12 HSPC039 protein LOC390851 18 similar to RIKEN cDNA C230094B15 LOC201411 18q21.1 similar to Thiopurine S-methyltransferase (Thiopurine methyltransferase) MADH2 18q21 MAD, mothers against decapentaplegic homolog 2 (Drosophila)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3054 38 334 - 1998 9804836
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Reproductivemale systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines macrophage cell lines BAC1.2F5 and J774.2
    fluid/secretion moderately in blood
    at STAGE
    physiological period fetal
    Text predominantly in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Fes/CIP4 homology domain
  • a coiled-coil domain
  • two potential SH3 binding sites
  • a proline-rich region
    • conjugated PhosphoP
    mono polymer homomer , oligo
    HOMOLOGY
    interspecies homolog to murine Pstpip2 (89.9 pc)
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text
  • peripheral membrane protein
    • basic FUNCTION
  • major F-actin-associated protein that is tyrosine-phosphorylated in macrophages and is likely to play a role in regulating the CSF1-induced reorganization of the actin cytoskeleton
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • phosphorylated on tyrosine
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds a PEST-type protein tyrosine phosphatase
  • associates directly or indirectly with actin
  • acts as a negative feedback regulator of CSF1R signaling to suppress inflammation and osteoclastogenesis
  • assembly of FNBP1 on the plasma membranes is antagonized by PSTPIP2, another F-BAR protein implicated in auto-inflammatory disorder
  • inhibits actin polymerization by competing with FNBP1 for assembly at artificial as well as the plasma membrane
  • is a negative regulator of CASP1-autonomous IL1B production
  • assembly of FNBP1 is dependent on WAS, and its dissociation by WAS inhibition strongly induces a self-organization of PSTPIP2 at podosomes
  • is a GATA1-repressed gene that controls megakaryopoiesis
  • PSTPIP2 interacted with LYN and the expression of a dominant negative LYN (LYN DN) overwhelmed the inhibitory effect of PSTPIP2 on differentiation and ERK signaling
    • cell & other
    REGULATION
    Other phosphorylated on tyrosine
    ASSOCIATED DISORDERS
    corresponding disease(s) CRMO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    dysregulation of PSTPIP2 due to GATA-1 deficiency may contribute to abnormal megakaryocyte proliferation and differentiation in pathogenesis of related diseases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Missense mutation (L98P) of Pstpip2 in mice leads to a disease that is phenotypically similar to Chronic recurrent multifocal osteomyelitis (CRMO) called chronic multifocal osteomyelitis (cmo)