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PLA2G6 Gene

protein-coding   GIFtS: 67

GC22M038507
phospholipase A2, group VI (cytosolic, calcium-independent)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
"" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""Services    
"" "" "" "" "" "" "" "" "" "" "" "" ""
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
phospholipase A2, group VI (cytosolic, calcium-independent)1 2     IPLA23 5
iPLA21 2 3     85 kDa calcium-independent phospholipase A22
PARK141 2     cytosolic, calcium-independent phospholipase A22
PNPLA91 2     PLA22
Group VI phospholipase A22 3     calcium-independent phospholipase A22
GVI PLA22 3     GVI2
CaI-PLA22 3     patatin-like phospholipase domain containing 92
INAD12 5     IPLA2-VIA2
NBIA2B2 5     EC 3.1.1.43
NBIA2A2 5     

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

Search outside databases for aliases for PLA2G6 gene

Previous GC identifers: GC22M035122 GC22M036750 GC22M036827

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLA2G6:
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 two of them have been determined to date. (provided by RefSeq)

UniProtKB/Swiss-Prot: PA2G6_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
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:
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
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the PLA2G6 gene upstream (promoter) region "":
deltaCREB   CREB   NF-kappaB   NF-kappaB1   AP-1   p53   HNF-1A   Sox9   POU3F2 (N-Oct-5a)   POU3F2   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for PLA2G6:  ""
MePH26937-1A   

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)
""

GeneLoc gene densities for chromosome 22         GeneLoc Exon Structure

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

Start:
38,507,502 bp from pter
End:
38,588,100 bp from pter
Size:
80,599 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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UniProtKB/Swiss-Prot: PA2G6_HUMAN, O60733 (See protein sequence)
Recommended Name: 85 kDa calcium-independent phospholipase A2  
Size: 806 amino acids; 89903 Da
Subunit: Forms large oligomeric 270-350 kDa structures
Subcellular location: Isoform LH-iPLA2: Membrane; Peripheral membrane protein
Subcellular location: Isoform SH-iPLA2: Cytoplasm
Secondary accessions: A8K597 B0QYE8 O75645 Q8N452 Q9UG29 Q9UIT0 Q9Y671
Alternative splicing: 4 isoforms:  O60733-1   O60733-2   O60733-3   O60733-4   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000413463 ENSP00000410332 ENSP00000400816 ENSP00000413478 ENSP00000405613 ENSP00000380069 
    ENSP00000335168 ENSP00000412061 ENSP00000335149 ENSP00000413145 ENSP00000407106 ENSP00000392968 
    ENSP00000408298 ENSP00000412629 ENSP00000407743 ENSP00000395464 ENSP00000401242 ENSP00000391643 
    ENSP00000393361 ENSP00000399752 ENSP00000393761 ENSP00000404974 ENSP00000399132 ENSP00000413597 
    ENSP00000406447 ENSP00000386100 ENSP00000333142 


    Human Recombinant Proteins 
    ""Browse Purified and Recombinant Proteins at Millipore
    ""Browse Human Recombinant Proteins at Sigma-Aldrich
    "" Browse R&D Systems for human recombinant proteins
    ""Enzo Life Sciences proteins for PLA2G6
    ""HuPro® and/or Recombinant Proteins from Abnova for PLA2G6 ""
    "" Origene Purified Recombinant Human Protein: PLA2G6
    ""Novus Biologicals Proteins for PLA2G6  ""
    Novus Biologicals Lysates for PLA2G6
    ""Browse Sino Biological Recombinant Proteins  ""

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    GO:0005813 centrosome IDA18029348
    GO:0016020 membrane IEA--
    GO:0019898 extrinsic to membrane ----
    About this table

    "" PLA2G6 for ontologies           About GeneDecksing



    Antibodies for PLA2G6: 
    ""Millipore Mono- and Polyclonal Antibodies for the study of PLA2G6
    ""Sigma-Aldrich Antibodies for PLA2G6
    "" Browse R&D Systems for Antibodies
    ""Monoclonal and Polyclonal Antibodies from Abnova (PLA2G6)
    ""Browse Origene Antibodies ""
    ""Novus Biologicals Antibodies for PLA2G6
    ""Browse antibodies at Epitomics

    Assays for PLA2G6: 
    ""Browse Kits and Assays available from Millipore
    ""Browse ELISAs at Sigma-Aldrich
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

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    "" PLA2G6 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR016035 Acyl_Trfase/lysoPlipase
     IPR002641 Patatin
     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 family: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: PA2G6_HUMAN, O60733
    Similarity: Contains 7 ANK repeats

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

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    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (PLA2G6)
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): PLA2G6
    Origene shRNA RFP (see all 2): PLA2G6
    Origene basic RS shRNA (see all 2): PLA2G6

    ""Applied Biosystems Silencer® siRNAs for PLA2G6
    ""Sigma-Aldrich siRNA Panels and siRNA for PLA2G6
    Sigma-Aldrich shRNA for PLA2G6
    Explore Sigma-Aldrich super-pooled esiRNAs
    Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): PLA2G6
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PLA2G6
    Origene untagged cDNA clones in CMV expression vector (see all 2): PLA2G6
    ""Browse Sino Biological Human cDNA Clones  ""

    UniProtKB/Swiss-Prot: PA2G6_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
    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 Number (IUBMB): EC 3.1.1.4 

    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

    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004623 phospholipase A2 activity TAS9417066
    GO:0016787 hydrolase activity IEA--
    GO:0047499 calcium-independent phospholipase A2 activity IEA--
    About this table

    "" PLA2G6 for ontologies           About GeneDecksing

    Animal Models: 9 MGI mutant phenotypes (inferred from 3 alleles""(MGI details for Pla2g6):

    behavior/neurologicalgrowth/sizehematopoietic systemimmune systemlife span-post-weaning/aging
    musclenervous systemreproductive systemskeleton

    "" PLA2G6 for phenotypes           About GeneDecksing

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
    About This Section

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    "" PLA2G6 for pathways           About GeneDecksing

    1 "" Millipore Pathway for PLA2G6
      ""  Immune response CD16 signaling in NK cells

    5/15 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  PLA2G6  (Your Favorite Gene powered by Ingenuity) (see all 15 )
      ""  Endothelin-1 Signaling
    Atherosclerosis Signaling
    Fc? Receptor-mediated Phagocytosis in Macrophages and Monocytes
    CCR3 Signaling in Eosinophils
    Synaptic Long Term Depression

    5/8 "" GeneAssist Pathways for PLA2G6 (see all 8 )
      ""  Fc-EpsilonRI Pathway
    Sperm Motility
    Phospholipase-C Pathway
    Chemokine Signaling
    DHA Signaling

    5/13 "" Kegg Pathways  (Kegg details for PLA2G6) (see all 13 ):
      ""  hsa00564 Glycerophospholipid metabolism
    hsa00565 Ether lipid metabolism
    hsa00590 Arachidonic acid metabolism
    hsa00591 Linoleic acid metabolism
    hsa00592 alpha-Linolenic acid metabolism

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PLA2G6

    5/65 Interacting proteins for PLA2G6 (ENSP000003331423) via UniProtKB, MINT, and/or STRING (see all 65 ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP4F2ENSP000000119893STRING: ENSP00000221700 STRING: ENSP00000011989
    ALOX12ENSP000002515353STRING: ENSP00000251535
    ALOX15ENSP000002937613STRING: ENSP00000293761
    ALOX5ENSP000003635123STRING: ENSP00000363512
    CYP1A2ENSP000003420073STRING: ENSP00000342007
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629 lipid metabolic process ----
    GO:0008152 metabolic process IEA--
    GO:0008219 cell death IEA--
    GO:0016042 lipid catabolic process IEA--
    GO:0032049 cardiolipin biosynthetic process IMP19164547
    About this table

    "" PLA2G6 for ontologies           About GeneDecksing


    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

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    "" PLA2G6 for compounds           About GeneDecksing

    "" Browse drugs & compounds from Enzo Life Sciences
    ""Browse Small Molecules at Sigma-Aldrich

    "" Compounds for PLA2G6 available from Tocris Bioscience
    CompoundAction CAS number
    RHC 80267Diacylglycerol lipase inhibitor[83654-05-1]
    AACOCF3Phospholipase A2 inhibitor[149301-79-1]
    OBAAPhospholipase A2 inhibitor
    PACOCF3Phospholipase A2 inhibitor[141022-99-3]
    About this table


    UniProtKB/Swiss-Prot: PA2G6_HUMAN, O60733
    Pharmaceutical: Potential target for therapeutic intervention of Barth syndrome

    10/423 ""Novoseek chemical compound relationships for PLA2G6 gene (see all 423 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysophosphatidylcholine 100.00 138 9139985 (8), 9098723 (5), 8795290 (5), 2368964 (5) (see all 80)
    arachidonic acid 100.00 507 10318801 (7), 14511220 (6), 7646440 (5), 3125041 (5) (see all 100)
    aacocf3 100.00 52 8195210 (4), 14511220 (2), 11800413 (2), 9916150 (1) (see all 47)
    bromoenol lactone 100.00 126 8943239 (4), 7667324 (3), 17696174 (3), 16420457 (3) (see all 100)
    p-bromophenacyl bromide 81.06 45 9028010 (4), 2402761 (3), 9060998 (2), 8897886 (2) (see all 36)
    phospholipid 80.81 140 10318801 (4), 8053897 (3), 3417866 (3), 16943248 (3) (see all 100)
    quinacrine 68.47 54 1382129 (3), 9650446 (2), 9362333 (2), 9106458 (2) (see all 46)
    mepacrine 67.94 43 7713816 (2), 2545840 (2), 18592376 (2), 16498630 (2) (see all 36)
    melittin 66.86 54 8653397 (7), 2402761 (7), 9028010 (6), 3094540 (4) (see all 25)
    mafp 61.10 28 8695655 (3), 14560038 (3), 9746498 (2), 15682269 (2) (see all 22)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:
    ""Browse for Gene Knock-down Tools from Millipore
    ""Abnova Chimera RNAi Products for Gene knock-down (PLA2G6)
    ""Applied Biosystems Silencer® siRNAs:  NM_001004426  NM_003560  
    "" Origene 29mer shRNA kits in GFP-retroviral vector (see all 2): PLA2G6
    Origene shRNA RFP (see all 2): PLA2G6
    Origene basic RS shRNA (see all 2): PLA2G6

    ""Sigma-Aldrich siRNA Panels and siRNA for PLA2G6
    Sigma-Aldrich shRNA for PLA2G6
    Explore Sigma-Aldrich super-pooled esiRNAs

    microRNA:""Search SABiosciences for microRNAs that regulate PLA2G6: ""
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_001004426  NM_003560  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector (see all 2): PLA2G6
    Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): PLA2G6
    Origene untagged cDNA clones in CMV expression vector (see all 2): PLA2G6
    Primers:"" Origene genome-wide validated SYBR primer pairs: PLA2G6
    ""SABiosciences RT2 qPCR Primer Assay for PLA2G6: PPH16718A ""

    REFSEQ mRNAs for PLA2G6 gene (2 alternative transcripts): 

    NM_001004426.1  NM_003560.2  

    Additional cDNA 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 

    22 DOTS entries:

    DT.111761  DT.100774220  DT.100779395  DT.100682858  DT.92425684  DT.120654513  DT.120654522  DT.75155031 
    DT.120654590  DT.100734092  DT.91897776  DT.97842410  DT.101958390  DT.120654502  DT.120654528  DT.120654589 
    DT.40131544  DT.75102337  DT.91965577  DT.92425683  DT.95097405  DT.99935785 

    24/137 AceView cDNA sequences (see all 137 ):

    BM666681 BG576680 BI461114 BM702095 AU126233 AK096521 BF725224 BM672414 
    AW268861 BG740766 H55147 BG751481 BC034592 AL080187 NM_001004426 AL041481 
    H55254 BC036742 BM709277 AI138871 CR456543 NM_003560 BG575678 CF529522 

    "" highest scoring ESTs for PLA2G6:

    AF064594 AL080187 BC036742 BC051904 BG772649 BI560527 BI828950 CR456543 AA312471 AA595672 

    Unigene Cluster for PLA2G6:

    Phospholipase A2, group VI (cytosolic, calcium-independent)
    Hs.170479  [show with all ESTs]
    Unigene Representative Sequence: BC036742


    GeneLoc Exon Structure

    5/29 Alternative Splicing Database (ASD) splice patterns (SP) for PLA2G6 (see all 29 )

    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:                                                      

    About this scheme

    ECgene alternative splicing isoforms for PLA2G6

    18/35 Ensembl transcripts including schematic representations (see all 35 ):
    ENST00000450010  ENST00000429782  ENST00000444151  ENST00000425347  ENST00000451461  ENST00000396860  
    ENST00000335538  ENST00000419848  ENST00000335539  ENST00000454670  ENST00000463287  ENST00000496409  
    ENST00000448094  ENST00000491986  ENST00000490473  ENST00000480154  ENST00000452794  ENST00000427453  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
    About This Section

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    PLA2G6 expression in normal and diseased human tissues

    "" Applied Biosystems TaqMan ® Gene Expression Assays for PLA2G6

    1""  / 2""  / 3""

    7 probe-sets matching PLA2G6 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    41645_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF064594 1.00 1.00 1.00 1
    210647_x_at2, 3 U133-A 1 1.00 1.00 -- -- AF102988 0.60 1.00 0.82 1
    215938_s_at2, 3 U133-A 1 1.00 1.00 -- -- AK001290 0.40 1.00 0.76 1
    204691_x_at2, 3 U133-A 1 0.91 1.00 -- -- NM_003560 0.60 1.00 0.82 1
    210647_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    215938_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    204691_x_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    "" PLA2G6 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTGGATGAGG

    SOURCE GeneReport for Unigene cluster: Hs.170479

    Expression variation in blood from EXPOLDB for PLA2G6

    UniProtKB/Swiss-Prot: PA2G6_HUMAN, O60733
    Tissue specificity: Four different transcripts were found to be expressed in a distinct tissue distribution

    Primers:"" Origene genome-wide validated SYBR primer pairs: PLA2G6 ""
    ""SABiosciences RT2 qPCR Primer Assay for PLA2G6: PPH16718A ""
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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    Orthologs for PLA2G6 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PLA2G61   -- phospholipase A2, group VI (cytosolic, calcium-independent) 89.87(n)
    90.82(a)
    481256  XM_845158.1  XP_850251.1 
    cow
    (Bos taurus)
    PLA2G61   -- phospholipase A2, group VI (cytosolic, calcium-independent) 88.82(n)
    88.82(a)
    535381  XM_615452.3  XP_615452.3 
    rat
    (Rattus norvegicus)
    Pla2g61   -- phospholipase A2, group VI (cytosolic, calcium-independent) 86.48(n)
    89.7(a)
    360426  NM_001005560.1  NP_001005560.1 
    mouse
    (Mus musculus)
    Pla2g61, 5 155
    phospholipase A2, group VI1, 5 85.96(n)1
    89.07(a)1
    533571  NM_016915.31  NP_058611.11 
     AA4325995  AF2594015  (see all 21)
    chicken
    (Gallus gallus)
    PLA2G61   -- phospholipase A2, group VI (cytosolic, calcium-independent) 69.66(n)
    63.42(a)
    418028  XM_416265.2  XP_416265.2 
    About this table        Species with no ortholog for PLA2G6

    ENSEMBL Gene Tree for PLA2G6
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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    Paralogs for PLA2G6 gene
    PNPLA82  

    "" PLA2G6 for paralogs           About GeneDecksing


    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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    10/769 NCBI SNPs in PLA2G6 are shown (see all 769 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 220)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 22 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs59955431,2
    C,F,A,H21545091(+) GCCAGG/AAGACT 2 -- ng51""11Minor allele frequency- A:0.31NS NA WA 964""
    --
    rs48217531,2
    C,F,A,H21545499(+) aggcaG/Aaggtt 2 -- ng51""1Minor allele frequency- A:0.34NS 160""
    --
    rs48217521,2
    C,F,A,H21545459(+) tgctcA/Gggagg 2 -- ng51""1Minor allele frequency- G:0.34NS 160""
    ""
    rs48203211,2
    C,F,A21545634(+) GCCAAT/AGCAAC 2 -- ng51""15Minor allele frequency- A:0.32NS EA NA WA 1478""
    --
    rs57505561,2
    C,A,H21544532(+) GACCAG/TGCTGG 2 -- ng51""3Minor allele frequency- T:0.00NA 6""
    ""
    rs115705981,2
    F,H38577723(-) GACTCC/TCAAGT 2 -- ut51 ese3""5Minor allele frequency- T:0.01NS EA 568""
    ""
    rs115706061,2
    C,F38565247(-) ACCCCA/GGGAAC 4 R G ref1 mis1 ese3""10Minor allele frequency- G:0.01NS EA NA 1084""
    ""
    rs115706801,2
    C,F38528888(-) CCAACG/ACGGAT 4 /T /A mis1 ref1 ese3""6Minor allele frequency- A:0.01NS EA NA 662""
    --
    rs115706051,2
    C,F38565262(-) ACTGCG/ATCCTG 4 /I /V mis1 ref1 ese3""8Minor allele frequency- A:0.02NS WA 876""
    ""
    rs121574731,2
    C38541445(+) CTCACC/ATGATG 4 /S /I ref1 mis1""4Minor allele frequency- A:0.00NS EA 420""
    About this table

    HapMap Linkage Disequilibrium images for PLA2G6 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 3 variations for PLA2G6
         3 CNVs: 36026 5185 5186

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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    "" PLA2G6 for disorders           About GeneDecksing

    OMIM: 603604   disorders: 256600  610217  612953  

    UniProtKB/Swiss-Prot: PA2G6_HUMAN, O60733

  • Defects in PLA2G6 are the cause of neurodegeneration with brain iron accumulation type 2 (NBIA2) [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
  • Defects in PLA2G6 are the cause of infantile neuroaxonal dystrophy 1 (INAD1) [MIM:256600]; also known as
  • Seitelberger disease. Infantile neuroaxonal dystrophy (INAD) is 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
  • Defects in PLA2G6 are the cause of Karak syndrome [MIM:608395]. Karak syndrome is a neurologic disease
  • characterized by early-onset progressive cerebellar ataxia, dystonia, spasticity, intellectual and features compatible
    with iron deposition in the putamen and substantia nigra
  • Defects in PLA2G6 are the cause of dystonia-parkinsonism Paisan-Ruiz type (DYTPR) [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

    10/187 ""Novoseek disease relationships for PLA2G6 gene (see all 187 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    infantile neuroaxonal dystrophies 27.77 15 19893029 (4), 18799783 (4), 19087156 (2), 18202189 (2) (see all 7)
    hypoxic 7.68 39 8367497 (6), 8836046 (4), 9863193 (3), 9470252 (3) (see all 19)
    cell injury 6.90 20 3417866 (6), 10080140 (3), 8430835 (2), 10411684 (2) (see all 11)
    neurodegeneration 5.83 17 18443314 (3), 18799783 (2), 18592376 (2), 18392810 (2) (see all 12)
    familial cold autoinflammatory syndrome 4.15 3 20092626 (3)
    septic shock 4.14 15 3338273 (5), 1940588 (4), 2834477 (2), 1740964 (2) (see all 6)
    myonecrosis 3.66 5 9028010 (1), 9027986 (1), 17203396 (1), 16003952 (1) (see all 5)
    neutrophil migration 2.39 4 8146868 (2), 15450921 (2)
    endotoxic shock 2.17 4 7922587 (2), 3338273 (2)
    ischemic myocardial dysfunction 1.88 1 1382129 (1)
    About this table

    GeneTests: PLA2G6
    Infantile Neuroaxonal Dystrophy

    Human Gene Mutation Database: PLA2G6
    Genetic Association Database: PLA2G6
    Human Genome Epidemiology Navigator: PLA2G6 (10 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

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      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    10/524 PubMed articles for PLA2G6 gene (see all 524 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)
    About This Section

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      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLA2G6
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pla2g6/
    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, 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


    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    ""
    ""
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