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PLA2G6 Gene

protein-coding   GIFtS: 71
GCID: GC22M038507

Phospholipase A2, Group VI (Cytosolic, Calcium-Independent)

  See PLA2G6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phospholipase A2, Group VI (Cytosolic, Calcium-Independent)1 2     85/88 KDa Calcium-Independent Phospholipase A22
Neurodegeneration With Brain Iron Accumulation 21 2     GVI2
Group VI Phospholipase A22 3     IPLA2-VIA2
Intracellular Membrane-Associated Calcium-Independent Phospholipase A2
Beta2 3
     NBIA22
Patatin-Like Phospholipase Domain-Containing Protein 92 3     PLA22
CaI-PLA22 3     Calcium-Independent Phospholipase A22
PNPLA92 3     Cytosolic, Calcium-Independent Phospholipase A22
GVI PLA22 3     iPLA22
iPLA2-beta2 3     iPLA2beta2
INAD12 5     Patatin-Like Phospholipase Domain Containing 92
NBIA2A2 5     EC 3.1.1.43
NBIA2B2 5     PLPLA93
PARK142 5     IPLA25
85 KDa Calcium-Independent Phospholipase A22     

External Ids:    HGNC: 90391   Entrez Gene: 83982   Ensembl: ENSG000001843817   OMIM: 6036045   UniProtKB: O607333   

Export aliases for PLA2G6 gene to outside databases

Previous GC identifers: GC22M035122 GC22M036750 GC22M036827 GC22M021473


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLA2G6 Gene:
The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty
acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid
release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in
glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the
full-length nature of only three of them have been determined to date. (provided by RefSeq, Dec 2010)

GeneCards Summary for PLA2G6 Gene:
PLA2G6 (phospholipase A2, group VI (cytosolic, calcium-independent)) is a protein-coding gene. Diseases associated with PLA2G6 include neurodegeneration with brain iron accumulation 2b, and parkinson disease 14. GO annotations related to this gene include calmodulin binding and ATP-dependent protein binding. An important paralog of this gene is PNPLA8.

UniProtKB/Swiss-Prot: PLPL9_HUMAN, O60733
Function: Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid
remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and
prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in
glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and
directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the
pseudopods
Function: Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably
involved in the negative regulation of iPLA2 activity

summary for PLA2G6 Gene:
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic
molecules. PLA is subdivided into PLA1 which cleave phospholipids at the sn-1 ester bond and PLA2, which
cleave at the sn-2 bond. Their most common substrate is phosphatidylcholine, which generates
lysophosphatidylcholine and arachidonic acid. PLA is regulated by phosphorylation and by intracellular Ca2+
concentrations. Phospholipases are ubiquitously expressed and have diverse biological functions including
roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.

Gene Wiki entry for PLA2G6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLA2G6 gene promoter:
         CREB   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLA2G6 promoter sequence
   Search Chromatin IP Primers for PLA2G6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLA2G6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

PLA2G6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLA2G6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M038507:  view genomic region     (about GC identifiers)

Start:
38,507,502 bp from pter      End:
38,601,697 bp from pter
Size:
94,196 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PLPL9_HUMAN, O60733 (See protein sequence)
Recommended Name: 85/88 kDa calcium-independent phospholipase A2  
Size: 806 amino acids; 89903 Da
Subunit: Forms large oligomeric 270-350 kDa structures
Secondary accessions: A8K597 B0QYE8 O75645 Q8N452 Q9UG29 Q9UIT0 Q9Y671
Alternative splicing: 4 isoforms:  O60733-1   O60733-2   O60733-3   O60733-4   

Explore the universe of human proteins at neXtProt for PLA2G6: NX_O60733

Explore proteomics data for PLA2G6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys719
  • Modification sites at PhosphoSitePlus

  • See PLA2G6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001004426.1  NP_001186491.1  NP_003551.2  

    ENSEMBL proteins: 
     ENSP00000333142   ENSP00000386100   ENSP00000413145   ENSP00000407106   ENSP00000392968  
     ENSP00000407743   ENSP00000408298   ENSP00000412629   ENSP00000472058   ENSP00000395464  
     ENSP00000401242   ENSP00000393361   ENSP00000413597   ENSP00000404974   ENSP00000393761  
     ENSP00000473160   ENSP00000335149  
    Reactome Protein details: O60733

    PLA2G6 Human Recombinant Protein Products:

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    antibodies-online proteins for PLA2G6 (6 products) 

     
    antibodies-online peptides for PLA2G6

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    PLA2G6 Assay Products:

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    antibodies-online kits for PLA2G6 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease
    PNPLA: Patatin-like phospholipase domain containing
    ANKRD: Ankyrin repeat domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: iPLA2-G6
    Phospholipase A2

    4 InterPro protein domains:
     IPR016035 Acyl_Trfase/lysoPLipase
     IPR002641 Patatin/PLipase_A2-rel
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry O60733

    ProtoNet protein and cluster: O60733

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: PLPL9_HUMAN, O60733
    Similarity: Contains 7 ANK repeats
    Similarity: Contains 1 patatin domain


    Find genes that share domains with PLA2G6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLPL9_HUMAN, O60733
    Function: Catalyzes the release of fatty acids from phospholipids. It has been implicated in normal phospholipid
    remodeling, nitric oxide-induced or vasopressin-induced arachidonic acid release and in leukotriene and
    prostaglandin production. May participate in fas mediated apoptosis and in regulating transmembrane ion flux in
    glucose-stimulated B-cells. Has a role in cardiolipin (CL) deacylation. Required for both speed and
    directionality of monocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the
    pseudopods
    Function: Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2, which lack the catalytic domain, are probably
    involved in the negative regulation of iPLA2 activity
    Catalytic activity: Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate
    Enzyme regulation: Inhibited by calcium-activated calmodulin (By similarity)

         Genatlas biochemistry entry for PLA2G6:
    phospholipase A2,Ca2+independent,group VI,expressed as oligomeric complex in bone,brain and other tissues,involved
    in the remodeling of membranes allowing arachidonic acid to be placed in the proper position in phospholipids for
    stimulated release

         Enzyme Number (IUBMB): EC 3.1.1.41

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004623phospholipase A2 activity TAS9417066
    GO:0005515protein binding ----
    GO:0005516calmodulin binding IEA--
    GO:0043008ATP-dependent protein binding IEA--
    GO:0047499calcium-independent phospholipase A2 activity IEA--
         
    Find genes that share ontologies with PLA2G6           About GenesLikeMe


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Pla2g6):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  reproductive system 
     skeleton  vision/eye 

    Find genes that share phenotypes with PLA2G6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PLA2G6: Pla2g6tm1Turk Pla2g6tm1Tsu Pla2g6tm1Zyao

       genOway: Develop your customized and physiologically relevant rodent model for PLA2G6

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    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-486-3p hsa-miR-223 hsa-miR-93 hsa-miR-20b
    SwitchGear 3'UTR luciferase reporter plasmidPLA2G6 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLPL9_HUMAN, O60733: Isoform LH-iPLA2: Membrane; Peripheral membrane protein. Note=Recruited to the
    membrane-enriched pseudopod upon MCP1/CCL2 stimulation in monocytes
    PLPL9_HUMAN, O60733: Isoform SH-iPLA2: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    mitochondrion2
    endoplasmic reticulum1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005813centrosome ----
    GO:0005829cytosol TAS--
    GO:0016020membrane IEA--

    Find genes that share ontologies with PLA2G6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PLA2G6 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    Acyl chain remodeling of CL0.00
    2Acyl chain remodelling of PC
    Acyl chain remodelling of PE0.85
    Ether lipid metabolism0.48
    Acyl chain remodelling of PC0.85
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Arachidonic acid metabolism
    Linoleic acid metabolism0.64
    Arachidonic acid metabolism0.41
    alpha-Linolenic acid metabolism0.64
    5Fcgamma receptor (FCGR) dependent phagocytosis
    Fcgamma receptor (FCGR) dependent phagocytosis0.77


    Find genes that share SuperPaths with PLA2G6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PLA2G6 (see all 8)
        Chemokine Signaling
    DHA Signaling
    cAMP Pathway
    all-trans-Retinoic Acid Signaling in Brain
    Antioxidant Action of Vitamin-C

    1 GeneGo (Thomson Reuters) Pathway for PLA2G6
        Immune response CD16 signaling in NK cells

    2 BioSystems Pathways for PLA2G6
        Eicosanoid Synthesis
    Spinal Cord Injury

    4 Reactome Pathways for PLA2G6
        Acyl chain remodelling of PE
    Acyl chain remodeling of CL
    Acyl chain remodelling of PC
    Role of phospholipids in phagocytosis


    Selected Kegg Pathways  (Kegg details for PLA2G6) (see all 10):
        Glycerophospholipid metabolism
    Ether lipid metabolism
    Arachidonic acid metabolism
    Linoleic acid metabolism
    alpha-Linolenic acid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PLA2G6: 
              GABA & Glutamate in human mouse rat
              VEGF Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PLA2G6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PLA2G6 (O607333 ENSP000003331424) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARF1P840773I2D: score=1 
    SREBF1P369563I2D: score=1 
    ALOX12ENSP000002515354STRING: ENSP00000251535
    ALOX15ENSP000002937614STRING: ENSP00000293761
    ALOX15BENSP000003695304STRING: ENSP00000369530
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IEA--
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process TAS--
    GO:0006935chemotaxis IEA--
    GO:0007204positive regulation of cytosolic calcium ion concentration IEA--

    Find genes that share ontologies with PLA2G6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for PLA2G6
      Browse compounds at ApexBio 

    Compounds for PLA2G6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FIPIPhospholipase D inhibitor[939055-18-2]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    D609Selective PC-PLC inhibitor[83373-60-8]

    UniProtKB/Swiss-Prot: PLPL9_HUMAN, O60733
    Pharmaceutical: Potential target for therapeutic intervention of Barth syndrome

    Selected HMDB Compounds for PLA2G6 (see all 2081)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-Linolenic acid(9,12,15)-linolenate (see all 23)463-40-1--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    CalciumCa (see all 2)7440-70-2--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    IronArmco iron (see all 19)7439-89-6--
    Linoleic acid(9Z,12Z)-9,12-Octadecadienoate (see all 26)60-33-3--
    LysoPC(14:0)LysoPC(14:0) (see all 9)----
    LysoPC(14:1(9Z))LysoPC(14:1) (see all 17)----

    1 DrugBank Compound for PLA2G6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Quinacrine-- 83-89-6targetinhibitor10199854 10229494 10653606 10449625 11455568

    Selected Novoseek inferred chemical compound relationships for PLA2G6 gene (see all 110)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bromoenol lactone 95.7 159 12952946 (5), 7667324 (3), 15164769 (2), 9354370 (2) (see all 60)
    arachidonic acid 89.4 471 7667324 (4), 10480488 (4), 12384982 (4), 12928445 (4) (see all 99)
    mafp 86.3 55 14560038 (3), 8695655 (3), 11278296 (1), 17187973 (1) (see all 19)
    aacocf3 86.2 47 9354370 (1), 10393510 (1), 10444641 (1), 11841807 (1) (see all 29)
    lysophosphatidylcholine 84.3 79 9139985 (6), 2368964 (5), 10898226 (4), 17951222 (3) (see all 38)
    p-bromophenacyl bromide 84.2 49 10749996 (2), 8342169 (2), 18582542 (2), 9060998 (2) (see all 22)
    quinacrine 82.8 69 7663895 (4), 9650446 (2), 11484413 (2), 7713816 (2) (see all 48)
    scalaradial 81.2 8 8113982 (1), 7575673 (1), 1294693 (1), 8250938 (1) (see all 6)
    manoalide 80.7 24 1885583 (3), 10087000 (2), 16406345 (1), 10096434 (1) (see all 12)
    lysoplasmenylcholine 79.6 1 9450545 (1)



    Find genes that share compounds with PLA2G6           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PLA2G6 gene (3 alternative transcripts): 
    NM_001004426.1  NM_001199562.1  NM_003560.2  

    Unigene Cluster for PLA2G6:

    Phospholipase A2, group VI (cytosolic, calcium-independent)
    Hs.170479  [show with all ESTs]
    Unigene Representative Sequence: BC036742
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000332509(uc003aux.1 uc003auy.1 uc003auz.1 uc003ava.1 uc010gxk.1)
    ENST00000402064(uc003avb.2) ENST00000463287 ENST00000496409 ENST00000454670
    ENST00000448094 ENST00000491986 ENST00000490473 ENST00000471636 ENST00000452794
    ENST00000480154 ENST00000427114 ENST00000427453 ENST00000452542 ENST00000498338
    ENST00000430886 ENST00000479641 ENST00000436218
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    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12195) for PLA2G6 

    Additional mRNA sequence: 

    AF064594.1 AF102988.1 AF102989.1 AK001290.1 AK096521.1 AK290825.1 AK291212.1 AK300459.1 
    AK308308.1 AL080187.1 BC036742.1 BC051904.1 CR456543.1 

    21 DOTS entries:

    DT.111761  DT.100774220  DT.100779395  DT.92425684  DT.100682858  DT.120654513  DT.120654522  DT.75155031 
    DT.120654590  DT.91897776  DT.97842410  DT.100734092  DT.101958390  DT.120654528  DT.40131544  DT.75102337 
    DT.91965577  DT.92425683  DT.95097405  DT.120654589  DT.99935785 

    Selected AceView cDNA sequences (see all 137):

    AI827304 BM666681 H55147 AU126233 BM805376 BG576680 BC036742 AL080187 
    BM672414 BG751481 AU122465 CF529522 AK096521 BM709277 BF725224 BG575678 
    BI461114 BE046512 BQ423546 BG752410 NM_001004426 NM_003560 AW268861 H55254 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLA2G6 (see all 29)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10 ^ 11a · 11b · 11c ^
    SP1:                                            -           -     -     -     -     -     -     -                                         -     -               
    SP2:                          -     -     -     -           -     -     -     -     -     -     -           -     -     -     -     -     -     -     -     -   
    SP3:                                                        -     -     -     -     -     -     -                                         -     -               
    SP4:                                                                                                                                                            
    SP5:                          -     -     -     -           -     -     -     -     -     -     -                                               -               

    ExUns: 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c · 24d ^
    SP1:                                                        -                 -                 -     -     -           -     -           -     -               
    SP2:  -     -     -     -                                   -                 -                 -     -     -           -     -           -     -               
    SP3:                                                        -                 -     -     -     -     -     -           -     -           -     -               
    SP4:                                                                                            -     -     -                             -     -               
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b
    SP1:        -           -                                 
    SP2:        -           -                                 
    SP3:        -           -                                 
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for PLA2G6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PLA2G6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGATGAGG
    PLA2G6 Expression
    About this image


    PLA2G6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Testis (Reproductive System)
     
     Eye (Sensory Organs)
    PLA2G6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLA2G6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170479

    UniProtKB/Swiss-Prot: PLPL9_HUMAN, O60733
    Tissue specificity: Four different transcripts were found to be expressed in a distinct tissue distribution

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PLA2G6: 
              GABA & Glutamate in human mouse rat
              VEGF Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PLA2G6 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pla2g61 , 5 phospholipase A2, group VI1, 5 87.06(n)1
    89.83(a)1
      15 (37.70 cM)5
    533571  NM_001199023.11  NP_001185952.11 
     792862285 
    chicken
    (Gallus gallus)
    Aves PLA2G61 phospholipase A2, group VI (cytosolic, calcium-independent) 69.7(n)
    63.42(a)
      418028  NM_001130738.1  NP_001124210.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLA2G66
    phospholipase A2, group VI (cytosolic, calcium-ind...
    58(a)
    1 ↔ 1
    GL343460.1(328058-346088)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pla2g61 phospholipase A2, group 6 (cytosolic, calcium-independent) 59.95(n)
    52.55(a)
      780118  NM_001079193.1  NP_001072661.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pla2g61 phospholipase A2, group VI (cytosolic, calcium-independent) 59.35(n)
    55.58(a)
      406370  NM_213097.2  NP_998262.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67183
    iPLA2-VIA1
    calcium-independent cytosolic
    phospholipase A23
    calcium-independent phospholipase A2 VIA1
    51(a)3
    49.17(n)1
    39.5(a)1
      67C113
    391601  NM_140109.11  NP_648366.21 
    worm
    (Caenorhabditis elegans)
    Secernentea D1037.53
    F47A4.51
    phospholipase3
    F47A4.51
    30(a)
    (best of 4)3
    42.09(n)1
    30.54(a)1
      I(3690183-3694016)3
    1811961  NM_077246.41  NP_509647.11 


    ENSEMBL Gene Tree for PLA2G6 (if available)
    TreeFam Gene Tree for PLA2G6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLA2G6 gene
    PNPLA82  
    Selected SIMAP similar genes for PLA2G6 using alignment to 13 protein entries:     PLPL9_HUMAN (see all proteins) (see all similar genes):
    DCTN5    RNF217    PKN1    RUFY1    ATP6V0A1    ZNF20
    ZNF738    ZNF74    CFLAR    FAM175A    TMEM44    AURA2
    CTSS    LYRM4    UTY    NF2    LINC00596    YTHDF3

    Find genes that share paralogs with PLA2G6           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLA2G6 (see all 1903)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0293714
    Neurodegeneration with brain iron accumulation 2A (NBIA2A)4--see VAR_0293712 V E mis40--------
    VAR_0625304
    Parkinson disease 14 (PARK14)4--see VAR_0625302 R Q mis40--------
    VAR_0293734
    Neurodegeneration with brain iron accumulation 2B (NBIA2B)4--see VAR_0293732 R W mis40--------
    VAR_0625314
    Parkinson disease 14 (PARK14)4--see VAR_0625312 R W mis40--------
    VAR_0706014
    Neurodegeneration with brain iron accumulation 2A (NBIA2A)4--see VAR_0706012 T M mis40--------
    VAR_0706004
    Neurodegeneration with brain iron accumulation 2A (NBIA2A)4--see VAR_0706002 D G mis40--------
    VAR_0293724
    Neurodegeneration with brain iron accumulation 2B (NBIA2B)4--see VAR_0293722 K T mis40--------
    rs1219086801,2
    Cpathogenic122425293(-) ATCTAG/TGAGCA 6 * Y stg10--------
    rs72915961,2
    C--22424089(+) GGAACA/GCCGCT 3 -- ds50010--------
    rs57569161,2
    C,F,A,H--22424121(+) CCTGCG/AGCTCA 3 -- ds50018Minor allele frequency- A:0.23NS NA CSA WA EA 544

    HapMap Linkage Disequilibrium report for PLA2G6 (38507502 - 38601697 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLA2G6 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661596CNV Deletion23128226
    esv2724224CNV Deletion23290073
    nsv3623CNV Insertion18451855
    esv996111CNV Insertion20482838
    nsv508732CNV Insertion20534489
    nsv834193CNV Loss17160897
    nsv834194CNV Loss17160897
    dgv4969n71CNV Loss21882294
    nsv915035CNV Loss21882294
    nsv471198CNV Loss18288195

    Human Gene Mutation Database (HGMD): PLA2G6
    Locus Specific Mutation Databases (LSDB): PLA2G6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLA2G6
    DNA2.0 Custom Variant and Variant Library Synthesis for PLA2G6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 603604   
    OMIM disorders: 256600  610217  612953  
    UniProtKB/Swiss-Prot: PLPL9_HUMAN, O60733
  • Neurodegeneration with brain iron accumulation 2B (NBIA2B) [MIM:610217]: A neurodegenerative disorder
    associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by
    progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Neurodegeneration with brain iron accumulation 2A (NBIA2A) [MIM:256600]: A neurodegenerative disease
    characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within
    the first 2 years of life with death by age 10 years. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Parkinson disease 14 (PARK14) [MIM:612953]: An adult-onset progressive neurodegenerative disorder
    characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent
    iron in the basal ganglia on magnetic resonance imaging. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 13 diseases for PLA2G6:    
    About MalaCards
    neurodegeneration with brain iron accumulation 2b    parkinson disease 14    infantile neuroaxonal dystrophy 1    pla2g6-associated neurodegeneration
    psychomotor disease    hypoplastic left heart syndrome 2    neuroaxonal dystrophy    meconium aspiration syndrome
    blepharitis    barth syndrome    krabbe disease    hypoplastic left heart syndrome
    parkinson's disease

    3 diseases from the University of Copenhagen DISEASES database for PLA2G6:
    Neuroaxonal dystrophy     Hallervorden-Spatz syndrome     Psychomotor disease

    Find genes that share disorders with PLA2G6           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PLA2G6 gene (see all 71)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acute pancreatitis 44.4 39 1393477 (4), 12005220 (4), 1946316 (4), 2218399 (3) (see all 13)
    pancreatic diseases 40.4 7 1517657 (2), 1777984 (1), 8444083 (1), 7485010 (1) (see all 5)
    inflammation 37.7 37 19790016 (2), 9518201 (2), 15597313 (2), 8431207 (1) (see all 31)
    necrosis 26.2 22 8129489 (2), 9242962 (1), 17047165 (1), 19408776 (1) (see all 18)
    meconium aspiration syndrome 24.3 1 16627874 (1)
    cell damage 20 3 1393477 (1), 12401195 (1), 11243252 (1)
    shock septic 19 19 7706567 (5), 1940588 (4), 1740964 (2), 7864806 (1) (see all 7)
    schizophrenia 18.7 41 9152103 (4), 15705356 (4), 10064828 (4), 17629734 (3) (see all 17)
    alzheimers disease 12.4 12 15830227 (2), 8739397 (1), 16406345 (1), 8850090 (1) (see all 10)
    leukemia basophilic 12.3 3 12547829 (1), 17003039 (1)

    GeneTests: PLA2G6
    GeneReviews: PLA2G6
    Genetic Association Database (GAD): PLA2G6
    Human Genome Epidemiology (HuGE) Navigator: PLA2G6 (17 documents)

    Export disorders for PLA2G6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PLA2G6 gene, integrated from 10 sources (see all 751):
    (articles sorted by number of sources associating them with PLA2G6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity. (PubMed id 9417066)1, 2, 3, 9 Larsson P.K.A.... Kennedy B.P. (J. Biol. Chem. 1998)
    2. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PubMed id 19029121)1, 2, 3 Kienesberger P.C.... Zechner R. (J. Lipid Res. 2009)
    3. The human calcium-independent phospholipase A2 gene. Multiple enzymes with distinct properties from a single gene. (PubMed id 10336645)1, 2, 9 Larsson Forsell P.K.A.... Claesson H.-E. (Eur. J. Biochem. 1999)
    4. Human pancreatic islets express mRNA species encoding two distinct catalytically active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene on chromosome 22q13.1. (PubMed id 10092647)1, 2, 9 Ma Z.... Turk J. (J. Biol. Chem. 1999)
    5. Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease. (PubMed id 20464283)1, 4, 9 Cordeiro Q....Vallada H. (Arq Neuropsiquiatr 2010)
    6. Allelic association analysis of phospholipase A2 genes with schizophrenia. (PubMed id 15318030)1, 4, 9 Junqueira R....Vallada H. (Psychiatr. Genet. 2004)
    7. Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. (PubMed id 21478494)1, 4 Nan H....Han J. (Hum. Mol. Genet. 2011)
    8. Genome-wide association study identifies three new melanoma susceptibility loci. (PubMed id 21983787)1, 4 Barrett J.H....Bishop D.T. (Nat. Genet. 2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. (PubMed id 20938027)1, 4 Yoshino H....Hattori N. (Neurology 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8398 HGNC: 9039 AceView: PLA2G6 Ensembl:ENSG00000184381 euGenes: HUgn8398
    ECgene: PLA2G6 Kegg: 8398 H-InvDB: PLA2G6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PLA2G6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PLA2G6[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pla2g6/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PLA2G6 gene:
    Search GeneIP for patents involving PLA2G6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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