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FLASH GENE
Symbol PI4K2A contributors: mct/npt - updated : 13-04-2018
HGNC name phosphatidylinositol 4-kinase type 2 alpha
HGNC id 30031
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • catalytic domains that regulate AP-3-dependent sorting (Craige 2008)
  • an AP-3-sorting motif and a kinase domain that are both required for endosome traffic (Craige 2008)
  • HOMOLOGY
    interspecies homolog to C.elegans C56A3.8
    Homologene
    FAMILY
  • phosphatidylinositol PI3/PI4-kinase family
  • type II PI4K subfamily
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • uniquely behaves both as a membrane protein cargo as well as an enzymatic regulator of adaptor function (Craige 2008)
  • membrane-anchored enzyme that is a regulator of AP3B1 recruitment to membranes and a cargo of AP3B1 (Craige 2008)
  • playing a necessary role for the correct endocytic traffic and downregulation of activated epidermal growth factor receptor (Minogue 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • AP3B1 and PI4KIIalpha form a complex that requires a dileucine-sorting motif present in PI4KIIA (Craige 2008)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PI4K2A is a binding partner of vesicle-associated membrane protein 3 (VAMP3), a small R-SNARE involved in recycling and retrograde transport, and the two proteins co-reside on tubulo-vesicular endosomes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Hermansky-Pudlak syndrome (down-regulation of either PI4K2A, BLOC1S1, or AP3B1 complex) (Salazar 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS