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FLASH GENE
Symbol PHLDA2 contributors: mct - updated : 05-12-2007
HGNC name pleckstrin homology-like domain, family A, member 2
HGNC id 12385
Location 11p15.5      Physical location : 2.949.502 - 2.950.650
Synonym name
  • Beckwith-Wiedemann syndrome,chromosome region candidate gene 1C
  • tumor suppressing subchromosomal transferable DNA fragment (STF 3)
  • imprinted in placenta and liver
  • tumor suppressing subtransferable candidate 3
  • Synonym symbol(s) BWSCR1C, IPL, TSSC3, BRW1C, BWR1C, HLDA2
    DNA
    TYPE functioning gene
    STRUCTURE 1.00 kb     2 Exon(s)
    MAPPING cloned Y linked N status confirmed
    regionally located . centromeric imprinting domain at 11p15; located between hNAP2 and P57 (KIP2)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 937 - 152 - Tang (2007)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   highly
     liver   lowly
    Endocrinepancreas   highly
    Nervousbrain    
    Reproductivefemale systemplacenta  highly
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly in kidney, weakly in liver and lung, highly in placenta
    IMPRINTING paternally
    text paternally imprinted gene (centromeric imprinting domain at 11p15, containing also TSSC5 and KCNQ1) in placenta, liver and fetal brain but not in normal adult brain and blood
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a single pleckstrin homology (PH) domain with short N- and C-terminal extensions
    HOMOLOGY
    interspecies homolog to murine Ip1
    intraspecies homolog to PHLDA3
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • tumor suppressing subchromosomal transferable DNA fragment (STF 3)
  • similar to TDAG51 implicated in FAS (APT1) expression and apoptosis
  • involved in the tumor development
  • imprinted gene important in fetal growth and also as a potential marker of fetal growth
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein bind to immobilized phosphatidylinositol phosphate with moderate affinity, but this binding is weaker and more promiscuous than that of prototypical PH domains from the general receptor for phosphoinositides (GRP1), phospholipase C delta1, and dual adaptor for phosphoinositides and phosphotyrosine 1
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOI    
    in brain tumor
    Susceptibility
    Variant & Polymorphism
    Candidate gene may be a candidate for contributing to the reduced growth rate of DICER1-deficient cells (Tang 2007)
    Marker
    Therapy target
    ANIMAL & CELL MODELS