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FLASH GENE
Symbol PHLDA2 contributors: mct - updated : 27-04-2021
HGNC name pleckstrin homology-like domain, family A, member 2
HGNC id 12385
Location 11p15.4      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, BRW1C
    DNA
    TYPE functioning gene
    STRUCTURE 1.15 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 - 920 - 152 - 2020 32062476
    EXPRESSION
    Type widely
       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     plasma membrane
        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
  • PHLDA2 exclusively modulates the spongiotrophoblast compartment of the placenta without significantly altering the composition of the trophoblast giant cell endocrine lineages that share a common progenitor with this lineage
  • role for placental PHLDA2 in poor perinatal outcomes, specifically fetal growth restriction (FGR) associated with reduced fetal movements (RFM)
  • differential expression of PHLDA2 and IGF2 may be one of the causes of selective intrauterine growth restriction
    • 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
    constitutional   LOI    
    is associated with abnormal placental development and fetal growth restriction
    constitutional     --over  
    of the maternally expressed imprinted gene PHLDA2, has been reported in the placenta of growth restricted pregnancies
    Susceptibility to variation of birth weight
    Variant & Polymorphism other
  • promoter variant in the imprinted PHLDA2 gene significantly increases birth weight
    • Candidate gene
  • may be a candidate for contributing to the reduced growth rate of DICER1-deficient cells (Tang 2007)
  • placental PHLDA2 expression could be candidate marker to identify or sub-classify growth restricted infants and to inform more effective interventions and treatment for IUGR in the future
    • Marker
  • placental CDKN1C, PHLDA2 and IGF2 level monitoring may be useful for predicting and preventing the development of child small for gestational age (SGA)
    • Therapy target
    ANIMAL & CELL MODELS