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PNPLA8 Gene

protein-coding   GIFtS: 58
GCID: GC07M108110

Patatin-Like Phospholipase Domain Containing 8

  See 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
Patatin-Like Phospholipase Domain Containing 81 2     Calcium-Independent Phospholipase A2-Gamma2
Intracellular Membrane-Associated Calcium-Independent Phospholipase A2
Gamma2 3
     iPLA2gamma2
Patatin-Like Phospholipase Domain-Containing Protein 82 3     IPLA2 Gamma2
IPLA2G2 3     Membrane-Associated Calcium-Independent Phospholipase A2 Gamma2
PNPLA-gamma2 3     EC 3.1.1.53
iPLA2-gamma2 3     IPLA223
IPLA2(GAMMA)2     iPLA2-23
IPLA2-22     

External Ids:    HGNC: 289001   Entrez Gene: 506402   Ensembl: ENSG000001352417   OMIM: 6121235   UniProtKB: Q9NP803   

Export aliases for PNPLA8 gene to outside databases

Previous GC identifers: GC07M107898 GC07M102480


(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 PNPLA8 Gene:
This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this
family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of
this gene is a calcium-independent phospholipase. A pseudogene of this gene is located on the X chromosome.
Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec
2011)

GeneCards Summary for PNPLA8 Gene:
PNPLA8 (patatin-like phospholipase domain containing 8) is a protein-coding gene. Diseases associated with PNPLA8 include weaver syndrome, and nicotine dependence. GO annotations related to this gene include lysophospholipase activity and calcium-independent phospholipase A2 activity. An important paralog of this gene is PLA2G6.

UniProtKB/Swiss-Prot: PLPL8_HUMAN, Q9NP80
Function: Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of
glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids

Gene Wiki entry for PNPLA8 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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNPLA8 gene promoter:
         TBP   AP-4   C/EBPalpha   PPAR-gamma1   Ik-2   FOXO4   TFIID   Sox9   PPAR-gamma2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): PNPLA8 promoter sequence
   Search Chromatin IP Primers for PNPLA8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNPLA8


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

Entrez Gene cytogenetic band: 7q31   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q31

PNPLA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNPLA8 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M108110:  view genomic region     (about GC identifiers)

Start:
108,110,866 bp from pter      End:
108,210,110 bp from pter
Size:
99,245 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 107,479,283-107,533,853     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PLPL8_HUMAN, Q9NP80 (See protein sequence)
Recommended Name: Calcium-independent phospholipase A2-gamma  
Size: 782 amino acids; 88477 Da
Sequence caution: Sequence=AAF67630.1; Type=Erroneous initiation; Sequence=BAA92090.1; Type=Erroneous initiation;
Sequence=EAL24384.1; Type=Erroneous gene model prediction;
Secondary accessions: A4D0S1 C9JZI4 O95035 Q8N3I3 Q9H7T5 Q9NR17 Q9NUN2 Q9NZ79
Alternative splicing: 3 isoforms:  Q9NP80-1   Q9NP80-2   Q9NP80-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PNPLA8: NX_Q9NP80

Explore proteomics data for PNPLA8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn4, Asn361
  • Modification sites at PhosphoSitePlus

  • See PNPLA8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001242936.1  NP_001242937.1  NP_001242938.1  NP_001242939.1  NP_001242940.1  NP_056538.1  

    ENSEMBL proteins: 
     ENSP00000394988   ENSP00000257694   ENSP00000410804   ENSP00000387789   ENSP00000406779  
     ENSP00000402274   ENSP00000406033   ENSP00000391872   ENSP00000373380  
    Reactome Protein details: Q9NP80

    PNPLA8 Human Recombinant Protein Products:

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

    2 InterPro protein domains:
     IPR016035 Acyl_Trfase/lysoPLipase
     IPR002641 Patatin/PLipase_A2-rel

    Graphical View of Domain Structure for InterPro Entry Q9NP80

    ProtoNet protein and cluster: Q9NP80

    UniProtKB/Swiss-Prot: PLPL8_HUMAN, Q9NP80
    Similarity: Contains 1 patatin domain


    PNPLA8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLPL8_HUMAN, Q9NP80
    Function: Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of
    glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids
    Catalytic activity: 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate
    Enzyme regulation: Inhibited by E-6-bromomethylene-3-1-naphthalenyl-2H-tetrahydropyran-2-one (BEL)
    Biophysicochemical properties: pH dependence: Optimum pH is 8.0;

         Enzyme Number (IUBMB): EC 3.1.1.51

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004622lysophospholipase activity IEA--
    GO:0005488binding ----
    GO:0005524ATP binding NAS10744668
    GO:0016787hydrolase activity ----
    GO:0047499calcium-independent phospholipase A2 activity IDA10744668
         
    PNPLA8 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pnpla8):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  mortality/aging 

    PNPLA8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pnpla8tm1Rigr for PNPLA8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PNPLA8
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    miRTarBase miRNAs that target PNPLA8:
    hsa-mir-155-5p (MIRT020888)

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    2 qRT-PCR Assays for microRNAs that regulate PNPLA8:
    hsa-miR-513a-3p hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidPNPLA8 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
    PLPL8_HUMAN, Q9NP80: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Golgi
    apparatus membrane; Single-pass membrane protein (By similarity). Cytoplasm, perinuclear region (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    peroxisome5
    mitochondrion2
    cytosol1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005622intracellular IDA10744668
    GO:0005777peroxisome IDA15695510
    GO:0005778peroxisomal membrane IDA10744668
    GO:0005789endoplasmic reticulum membrane TAS--

    PNPLA8 for ontologies           About GeneDecksing


    (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 PNPLA8 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Acyl chain remodelling of PC
    Acyl chain remodelling of PE0.85
    Acyl chain remodelling of PC0.85
    2Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Phospholipid metabolism0.64
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4phospholipases
    phospholipases0.34
    5Immune response Role of DAP12 receptors in NK cells
    Immune response CD16 signaling in NK cells0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PNPLA8
        Immune response CD16 signaling in NK cells

    2 BioSystems Pathways for PNPLA8
        Eicosanoid Synthesis
    phospholipases

    2 Reactome Pathways for PNPLA8
        Acyl chain remodelling of PE
    Acyl chain remodelling of PC



    PNPLA8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNPLA8
    Interactions:

        Search GeneGlobe Interaction Network for PNPLA8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for PNPLA8 (Q9NP802 ENSP000002576944) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LPCAT1ENSP000002834154STRING: ENSP00000283415
    LPCAT2ENSP000002621344STRING: ENSP00000262134
    MBOAT1ENSP000003249444STRING: ENSP00000324944
    LPCAT4ENSP000003173004STRING: ENSP00000317300
    MBOAT2ENSP000003021774STRING: ENSP00000302177
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001516prostaglandin biosynthetic process IDA15695510
    GO:0006629lipid metabolic process ----
    GO:0006631fatty acid metabolic process IDA10744668
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----

    PNPLA8 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PNPLA8 (PLPL8)

    Selected HMDB Compounds for PNPLA8 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--
    Glycerophosphocholine2-[[(2,3-dihydroxypropoxy)hydroxyphosphinyl]oxy]-N,N,N-trimethyl-Ethanaminium inner salt (see all 21)28319-77-9--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--
    Pentadecanoic acidPentadecanoate (see all 8)1002-84-2--
    Stearic acid1-Heptadecanecarboxylate (see all 12)57-11-4--

    5 Novoseek inferred chemical compound relationships for PNPLA8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    plasmenylcholine 89 1 15908428 (1)
    bromoenol lactone 88.7 5 15629460 (1), 17312185 (1), 18574607 (1)
    arachidonic acid 54.3 10 15695510 (4), 17312185 (1), 15908428 (1), 18790994 (1)
    phospholipid 38.3 1 15695510 (1)
    lipid 26.6 11 18398221 (3), 17213206 (2), 12832049 (1)



    PNPLA8 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PNPLA8 gene (6 alternative transcripts): 
    NM_001256007.1  NM_001256008.1  NM_001256009.1  NM_001256010.1  NM_001256011.1  NM_015723.3  

    Unigene Cluster for PNPLA8:

    Patatin-like phospholipase domain containing 8
    Hs.617340  [show with all ESTs]
    Unigene Representative Sequence: NM_015723
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426128 ENST00000257694(uc003vfh.1 uc003vfj.1 uc003vfk.1)
    ENST00000422087(uc003vff.1) ENST00000453144(uc003vfi.1) ENST00000436062
    ENST00000453085 ENST00000483879 ENST00000476592 ENST00000462466 ENST00000489738
    ENST00000427008 ENST00000415498 ENST00000388728
    miRNA
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    hsa-miR-513a-3p hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidPNPLA8 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB041261.1 AF217519.1 AF263613.1 AF263947.1 AK002115.1 AK024335.1 AK291755.1 AL834147.1 
    BC005203.1 BC032999.2 BX647865.1 

    16 DOTS entries:

    DT.452540  DT.95169205  DT.40308590  DT.95221619  DT.99962051  DT.121054263  DT.100822973  DT.100822978 
    DT.121054186  DT.100822976  DT.100822981  DT.101962439  DT.121054254  DT.91750908  DT.100822971  DT.40270565 

    Selected AceView cDNA sequences (see all 156):

    BE467521 AA489199 CD671470 CB961334 AI922302 BQ639017 BX403054 BE503143 
    BF438996 CB961593 BM971847 BQ435349 AA503094 BQ420940 BU680496 BQ027598 
    H40365 BX419604 CB996134 T25068 BE502728 AF263613 BU741157 AL134665 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA8 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                                                              
    SP2:                                                  -                                                                           
    SP3:        -     -     -     -     -     -           -     -                                                                     
    SP4:                                            -     -     -                                                                     
    SP5:                                            -     -                                                                           


    ECgene alternative splicing isoforms for PNPLA8

    (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)
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    PNPLA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTATGGCA
    PNPLA8 Expression
    About this image


    PNPLA8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    PNPLA8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNPLA8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.617340

    UniProtKB/Swiss-Prot: PLPL8_HUMAN, Q9NP80
    Tissue specificity: Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and
    pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal
    muscle and heart

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPLA8

    (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 PNPLA8 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnpla81 , 5 patatin-like phospholipase domain containing 81, 5 85.33(n)1
    83.23(a)1
      12 (20.71 cM)5
    674521  NM_026164.21  NP_080440.21 
     442213705 
    chicken
    (Gallus gallus)
    Aves PNPLA81 patatin-like phospholipase domain containing 8 68.69(n)
    62.87(a)
      417785  NM_001130737.1  NP_001124209.1 
    lizard
    (Anolis carolinensis)
    Reptilia PNPLA86
    patatin-like phospholipase domain containing 8
    57(a)
    1 ↔ 1
    5(56399421-56439432)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.121592 Transcribed sequence with moderate similarity to protein more 76.87(n)    BX729395.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.222882 Transcribed sequence with moderate similarity to protein more 75.89(n)    57062428 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0099561 AgaP_AGAP009956 46.33(n)
    41.75(a)
      1279373  XM_319089.4  XP_319089.4 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73B6BL.41 Y73B6BL.4 49.17(n)
    38.66(a)
      177396  NM_068568.4  NP_500969.1 


    ENSEMBL Gene Tree for PNPLA8 (if available)
    TreeFam Gene Tree for PNPLA8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PNPLA8 gene
    PLA2G62  

    PNPLA8 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PNPLA8
    PGOHUM00000242000


    (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 PNPLA8 (see all 1176)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs133070451,2
    C,F--108110395(+) TTCTAT/CATTTA 6 -- ds50017Minor allele frequency- C:0.28NA WA EA 366
    rs349152981,2
    C,F--108110451(+) TCCTCC/TTCTTT 6 -- ds50013Minor allele frequency- T:0.12WA NA EA 358
    rs794720311,2
    --108110497(+) AGACTA/GAAAAT 6 -- ds50010--------
    rs133125931,2
    C,F,H--108110529(+) TTGCCA/GTCTTG 6 -- ds500123Minor allele frequency- G:0.25EA NA NS WA 1782
    rs1412938411,2
    --108110581(+) GCAAGA/CACTGG 6 -- ds50010--------
    rs96414101,2
    C,F,H--108110701(+) GGTTTG/CCCTTT 6 -- ds500112Minor allele frequency- C:0.10NA NS EA CSA WA 912
    rs96407061,2
    C--108110838(+) AAAAAA/GAAAGA 6 -- ds50011Minor allele frequency- G:0.00WA 2
    rs668873481,2
    C--108110838(+) AAAAA-/G/GAA 
            
    AGAAA
    12 -- ds5001 cds10--------
    rs1470115431,2
    --108111032(+) TGCTTC/GAAATT 6 -- ut310--------
    rs1382438501,2
    --108111035(+) TTGAAA/GTTTGC 6 -- ut310--------

    HapMap Linkage Disequilibrium report for PNPLA8 (108110866 - 108210110 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PNPLA8: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PNPLA8
    DNA2.0 Custom Variant and Variant Library Synthesis for PNPLA8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612123    OMIM disorders: --

    10 diseases for PNPLA8:    
    About MalaCards
    weaver syndrome    nicotine dependence    tonsillitis    schizophrenia
    malaria    thyroiditis    hepatitis    cerebritis
    endotheliitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for PNPLA8:
    Weaver syndrome

    PNPLA8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PNPLA8
    Human Genome Epidemiology (HuGE) Navigator: PNPLA8 (2 documents)

    Export disorders for PNPLA8 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 PNPLA8 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PNPLA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel intracellular membrane-bound calcium-independent phospholipase A(2). (PubMed id 10833412)1, 2, 3 Tanaka H.... Sumimoto H. (Biochem. Biophys. Res. Commun. 2000)
    2. The genomic organization, complete mRNA sequence, cloning, and expression of a novel human intracellular membrane-associated calcium- independent phospholipase A(2). (PubMed id 10744668)1, 2, 3 Mancuso D.J.... Gross R.W. (J. Biol. Chem. 2000)
    3. Group VIB Ca2+-independent phospholipase A2gamma promotes cellular membrane hydrolysis and prostaglandin production in a manner distinct from other intracellular phospholipases A2. (PubMed id 15695510)1, 2, 9 Murakami M.... Kudo I. (J. Biol. Chem. 2005)
    4. 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)
    5. Schizophrenia: an association study targets phospholipase A2 genes as potential sites of susceptible genes. (PubMed id 19892409)1, 4 Meng X....Yu Y. (Psychiatry Res 2010)
    6. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. (PubMed id 19029121)1, 3 Kienesberger P.C.... Zechner R. (J. Lipid Res. 2009)
    7. Characterization of the human patatin-like phospholipase family. (PubMed id 16799181)1, 3 Wilson P.A.... Crowther D.J. (J. Lipid Res. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    10. Dramatic accumulation of triglycerides and precipitation of cardiac hemodynamic dysfunction during brief caloric restriction in transgenic myocardium expressing human calcium-independent phospholipase A2gamma. (PubMed id 17213206)1, 9 Mancuso D.J....Gross R.W. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 50640 HGNC: 28900 AceView: IPLA2(GAMMA) Ensembl:ENSG00000135241 euGenes: HUgn50640
    ECgene: PNPLA8 H-InvDB: PNPLA8

    (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 PNPLA8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PNPLA8 gene:
    Search GeneIP for patents involving PNPLA8

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



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