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FLASH GENE
Symbol PLA2G6 contributors: mct - updated : 15-02-2012
HGNC name phospholipase A2, group VI (cytosolic, calcium-independent)
HGNC id 9039
Corresponding disease
INAD1 infantile neuroaxonal dystrophy 1
NBIA2 neurodegeneration with brain iron accumulation 2
PARK14 Parkinson disease 14
Location 22q13.1      Physical location : 38.507.501 - 38.577.761
Synonym name
  • patatin-like phospholipase domain containing 9
  • calcium-independent phospholipase A2
  • phospholipase A2, group VI
  • cytosolic, calcium-independent phospholipase A2
  • Synonym symbol(s) IPLA2, CaI-PLA2, GVI, PLA2, PNPLA9, IPLA2beta, PARK14, IPLA2-VIA
    EC.number 3.1.1.4
    DNA
    TYPE functioning gene
    STRUCTURE 70.26 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3077 - 752 ubiquitous 2005 15629460
  • also called variant 2 or ER-IPLA2 gamma
  • may play critical roles in oxidant-induced cell injury
  • 17 - 3239 89.9 806 - 2005 15629460
    also called variant 1
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a lipase consensus sequence (GTSTG)
  • seven ankyrin repeats
  • multiple alternatively splicing forms with distinct tissue distribution and cellular localization
  • patatin domain
  • conjugated Other
    HOMOLOGY
    Homologene
    FAMILY
  • phospholipase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • participating in Fas mediated apoptosis
  • involved in the remodeling of membranes allowing arachidonic acid to be placed in the proper position in phospholipids for stimulated release
  • possible role for PLA2G6 in neuronal proliferation throughout the developing brain and in maturing neurons in the cortical plate and hindbrain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • pathway leading to CYBB activation in which PLA2G6-regulated MAPK14 activity is a key regulator of S100A8/A9 translocation via S100A9 phosphorylation
  • a component
  • oligomeric complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NBIA2 , INAD1 , PARK14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in excessive exocytosis through increased oxidative damage (or failure to repair such damage) and defects in mitochondrial function (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    inhibition of iPLA(2) and lysophospholipid production may be of interest to reduce Ca(2+) entry and subsequent degeneration of dystrophic muscle
    ANIMAL & CELL MODELS