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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
Location 10q24      Physical location : 99.400.442 - 99.436.187
Synonym name
  • phosphatidylinositol 4-kinase type 2
  • phosphatidylinositol 4-kinase type II (PI4KII)
  • Synonym symbol(s) PI4K2, PI4KII, DKFZP761G1923, RP11-548K23.6
    EC.number 2.7.1.67
    DNA
    TYPE functioning gene
    STRUCTURE 35.74 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 4185 54 479 - Salazar (2009)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Reproductivemale systemtestis  highly
    Urinarybladder   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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