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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PNPLA6 Gene

protein-coding   GIFtS: 59
GCID: GC19P007598

Patatin-Like Phospholipase Domain Containing 6

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Patatin-Like Phospholipase Domain Containing 61 2     NTEMND2 5
NTE2 3 5     SPG392 5
Neuropathy Target Esterase1 2     iPLA2delta2
Patatin-Like Phospholipase Domain-Containing Protein 62 3     sws2
EC 3.1.1.53 8     

External Ids:    HGNC: 162681   Entrez Gene: 109082   Ensembl: ENSG000000324447   OMIM: 6031975   UniProtKB: Q8IY173   

Export aliases for PNPLA6 gene to outside databases

Previous GC identifers: GC19P007506 GC19P007270


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PNPLA6 Gene:
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce
glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal
differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and
non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is
the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for PNPLA6 Gene: 
PNPLA6 (patatin-like phospholipase domain containing 6) is a protein-coding gene. Diseases associated with PNPLA6 include spastic paraplegia 39, and paraplegia, and among its related super-pathways are Glycerophospholipid biosynthesis. GO annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA7.

UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17
Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating
glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its
specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy

Gene Wiki entry for PNPLA6 (Neuropathy target esterase) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_077812.2  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PNPLA6 gene promoter:
         Nkx3-1   AhR   SRF   AP-1   SRF (504 AA)   Arnt   c-Ets-1   Pax-3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PNPLA6 promoter sequence
   Search SABiosciences Chromatin IP Primers for PNPLA6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNPLA6


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

PNPLA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNPLA6 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P007598:  view genomic region     (about GC identifiers)

Start:
7,598,890 bp from pter      End:
7,626,653 bp from pter
Size:
27,764 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17 (See protein sequence)
Recommended Name: Neuropathy target esterase  
Size: 1366 amino acids; 149995 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein; Cytoplasmic side.
Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment
Secondary accessions: A6NGQ0 B4DFB9 B7Z7T2 F5H5K9 J3KQS3 O60859 Q86W58 Q9UG58
Alternative splicing: 5 isoforms:  Q8IY17-1   Q8IY17-2   Q8IY17-3   Q8IY17-4   Q8IY17-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PNPLA6: NX_Q8IY17

Explore proteomics data for PNPLA6 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IY17

  • 4/11 DME Specific Peptides for PNPLA6 (Q8IY17) (see all 11)
     VLNGRLR  SDCTYIVL  GGTSIGSF  WRYVRASM 

    PNPLA6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PNPLA6 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001159583.1  NP_001159584.1  NP_001159585.1  NP_001159586.1  NP_006693.3  

    ENSEMBL proteins: 
     ENSP00000221249   ENSP00000470608   ENSP00000472631   ENSP00000443323   ENSP00000470461  
     ENSP00000407509   ENSP00000394348   ENSP00000472572   ENSP00000469794   ENSP00000473211  
     ENSP00000472456   ENSP00000470060   ENSP00000469171  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    PNPLA6 for ontologies           About GeneDecksing



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

    5/6 InterPro protein domains (see all 6):
     IPR016035 Acyl_Trfase/lysoPLipase
     IPR018490 cNMP-bd-like
     IPR002641 Patatin/PLipase_A2-rel
     IPR000595 cNMP-bd_dom
     IPR001423 LysoPLipase_patatin_CS

    Graphical View of Domain Structure for InterPro Entry Q8IY17

    ProtoNet protein and cluster: Q8IY17

    2 Blocks protein domains:
    IPB000595 Cyclic nucleotide-binding domain
    IPB001423 Protein of unknown function UPF0028


    UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17
    Similarity: Belongs to the NTE family
    Similarity: Contains 3 cyclic nucleotide-binding domains
    Similarity: Contains 1 patatin domain


    PNPLA6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLPL6_HUMAN, Q8IY17
    Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating
    glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its
    specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy
    Catalytic activity: 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate
    Enzyme regulation: Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl
    dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon

         Enzyme Number (IUBMB): EC 3.1.1.51 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004622lysophospholipase activity IEA--
         
    PNPLA6 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pnpla6):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size 
     homeostasis/metabolism  integument  mortality/aging  nervous system 

    PNPLA6 for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-miR-148b hsa-miR-15a hsa-miR-503 hsa-miR-424 hsa-miR-199b-5p hsa-miR-195 hsa-miR-1910 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidPNPLA6 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PNPLA6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid metabolism0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for PNPLA6):
        Glycerophospholipid metabolism


    PNPLA6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PNPLA6

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

    5/49 Interacting proteins for PNPLA6 (Q8IY173 ENSP000002212494) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    IPO5O004103I2D: score=4 
    PDHBP111773I2D: score=4 
    PES1O005413I2D: score=3 
    EEF1A1P681043I2D: score=2 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006629lipid metabolic process ----
    GO:0008152metabolic process ----
    GO:0008219cell death IEA--
    GO:0009887organ morphogenesis IEA--

    PNPLA6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PNPLA6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PNPLA6 (PLPL6)

    10/1085 HMDB Compounds for PNPLA6 (see all 1085)    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--
    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--
    PC(14:0/14:0)Phosphatidylcholine(14:0/14:0) (see all 8)----
    PC(14:0/14:1(9Z))Phosphatidylcholine(14:0/14:1) (see all 14)----
    PC(14:0/15:0)GPCho(14:0/15:0) (see all 8)----
    PC(14:0/16:0)GPCho(30:0) (see all 8)----

    10/42 Novoseek inferred chemical compound relationships for PNPLA6 gene (see all 42)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mipafox 98.1 67 8337699 (4), 10741477 (3), 8343999 (2), 8568835 (2) (see all 33)
    phenyl valerate 97.8 46 9305588 (4), 10741477 (2), 17615108 (1), 12746135 (1) (see all 21)
    phenyl-n-methyl-n-benzylcarbamate 94.7 3 16897762 (1), 1316117 (1)
    tocp 93.4 40 9823777 (4), 7558652 (2), 10321902 (2), 8344740 (2) (see all 14)
    dibutyl 2,2-dichlorovinyl phosphate 92.7 4 7974486 (2), 1316117 (1)
    phenyl saligenin phosphate 92.1 14 8343999 (2), 19778211 (2), 10321902 (1), 2373292 (1) (see all 7)
    methamidophos 88 31 10774823 (6), 8211998 (3), 7654138 (3), 1660708 (3) (see all 13)
    diisopropylfluorophosphate 85.4 17 8921348 (2), 9305588 (1), 11405252 (1), 8393746 (1) (see all 9)
    paraoxon 84.9 20 7671342 (2), 8291056 (1), 9001593 (1), 9268605 (1) (see all 12)
    pmsf 84.4 28 8572929 (3), 2017753 (3), 8381002 (1), 8393746 (1) (see all 15)

    Search CenterWatch for drugs/clinical trials and news about PNPLA6 / PLPL6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PNPLA6 gene (5 alternative transcripts): 
    NM_001166111.1  NM_001166112.1  NM_001166113.1  NM_001166114.1  NM_006702.4  

    Unigene Cluster for PNPLA6:

    Patatin-like phospholipase domain containing 6
    Hs.631863  [show with all ESTs]
    Unigene Representative Sequence: NM_001166111
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000221249(uc002mgq.2) ENST00000594754 ENST00000601668 ENST00000594098
    ENST00000601001 ENST00000545201(uc010xjp.2) ENST00000596515 ENST00000414982(uc010xjq.2 uc002mgs.3)
    ENST00000450331(uc002mgr.2) ENST00000600942 ENST00000593924 ENST00000600737
    ENST00000602191 ENST00000598462 ENST00000595264 ENST00000594551 ENST00000599311
    ENST00000595176
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AJ004832.1 AK056629.1 AK125037.1 AK293807.1 AK294021.1 AK302462.1 AL050362.1 BC038229.1 
    BC050553.1 BC051768.1 

    24/25 DOTS entries (see all 25):

    DT.95221658  DT.100817132  DT.447244  DT.100861088  DT.97846479  DT.100817129  DT.121456102  DT.100030021 
    DT.121456077  DT.70104389  DT.95110077  DT.121456075  DT.95213685  DT.95344777  DT.99957665  DT.121456045 
    DT.95208556  DT.97823944  DT.100658684  DT.100817130  DT.121456058  DT.121456074  DT.91755420  DT.75188312 

    24/317 AceView cDNA sequences (see all 317):

    AI311022 BU617407 AA603115 BM558329 AA311733 F12145 CA309350 AF287269 
    BQ893042 BF883797 BI819028 BQ009671 AA345650 AI373623 CD300188 AJ293970 
    AI203422 AI299326 CB117063 AI049529 BM905707 CB306538 AJ293659 BE545229 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA6 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                        -   
    SP3:                                                                                                                                                        -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32a ·
    SP1:                                                                                                                                                            
    SP2:                                -                                                                                                                           
    SP3:                                -                                                                                                                           
    SP4:                                -                                   -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 32b ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for PNPLA6

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PNPLA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTTTGGGA
    PNPLA6 Expression
    About this image


    See PNPLA6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PNPLA6

    SOURCE GeneReport for Unigene cluster: Hs.631863

    UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17
    Tissue specificity: Expressed in brain, placenta, kidney, neuron and skeletal muscle

        SABiosciences Custom PCR Arrays for PNPLA6
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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PNPLA6 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnpla61 , 5 patatin-like phospholipase domain containing 61, 5 86.47(n)1
    96.27(a)1
      8 (1.92 cM)5
    507671  NM_001122818.21  NP_001116290.21 
     35153845 
    chicken
    (Gallus gallus)
    Aves PNPLA61 patatin-like phospholipase domain containing 6 78.17(n)
    82.78(a)
      425396  NM_001113453.1  NP_001106924.1 
    lizard
    (Anolis carolinensis)
    Reptilia PNPLA66
    patatin-like phospholipase domain containing 6
    76(a)
    1 ↔ 1
    2(80009816-80080598)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5609861 novel protein similar to H.sapiens PNPLA6, patatin-like more 69.59(n)
    76.21(a)
      560986  XM_001921173.2  XP_001921208.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sws6
    swiss cheese
    39(a)
    1 → many
    X(7850853-7862269)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK370.46
    M110.76
    Uncharacterized NTE family protein M110.7
    34(a)
    32(a)
    many ↔ many
    many ↔ many
    III(8725323-8731373)
    II(8232789-8237202)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NTE16
    Serine esterase, homolog of human neuropathy targe...
    21(a)
    1 → many
    XIII(153219-158258)


    ENSEMBL Gene Tree for PNPLA6 (if available)
    TreeFam Gene Tree for PNPLA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PNPLA6 gene
    PNPLA72  
    1 SIMAP similar gene for PNPLA6 using alignment to 9 protein entries:     PLPL6_HUMAN (see all proteins):
    PNPLA7

    PNPLA6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PNPLA6
    PGOHUM00000234475


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/977 SNPs in PNPLA6 are shown (see all 977)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0444104
    Spastic paraplegia 39, autosomal recessive (SPG39)4--see VAR_0444102 M V mis40--------
    VAR_0444094
    Spastic paraplegia 39, autosomal recessive (SPG39)4--see VAR_0444092 R H mis40--------
    rs1886586301,2
    --7282957(+) TTTTTA/TAAGAG 5 -- int10--------
    rs1115569761,2
    C--7284437(+) ATCGC-/A/AAAA
            
    AAAAA
    5 -- int11CSA 2
    rs1503220031,2
    C--7284437(+) ATCGC-/AAAA  
            
    AAAAA
    5 -- int10--------
    rs720406781,2
    C--7285515(+) TTCTT-/TC/TCT
            
    CTTTT
    10 -- int1 cds10--------
    rs666738631,2
    C--7285517(+) TCTTC-/CTT   
      
    /TTCTT
    TTTTT
    10 -- int1 cds11NA 2
    rs678890011,2
    C--7285518(+) CTTCT-/TTCTT/
    TTCTTCTT
    TTTTT
    5 -- int10--------
    rs7938631,2
    C,F--7285528(+) tttttT/Aaagac 5 -- int15Minor allele frequency- A:0.17NA 12
    rs665292601,2
    C--7286819(+) GTTGG-/AAAAAG 5 -- int11Minor allele frequency- A:0.00CSA 2

    HapMap Linkage Disequilibrium report for PNPLA6 (7598890 - 7626653 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for PNPLA6 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv910975CNV Loss21882294
    dgv3710n71CNV Loss21882294
    nsv910970CNV Loss21882294
    dgv3714n71CNV Loss21882294
    dgv3712n71CNV Loss21882294
    dgv3713n71CNV Loss21882294
    nsv910963CNV Loss21882294
    nsv910957CNV Loss21882294
    nsv910962CNV Loss21882294
    nsv833730CNV Loss17160897


    Human Gene Mutation Database (HGMD): PNPLA6
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603197   
    OMIM disorders: 612020  
    UniProtKB/Swiss-Prot: PLPL6_HUMAN, Q8IY17
  • Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower
    limbs and resulting in progressive wasting of distal upper and lower extremity muscles. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 13 diseases for PNPLA6:    About MalaCards
    spastic paraplegia 39    paraplegia    spasticity    polyneuropathy
    motor neuron disease    toxic encephalopathy    neuropathy    paralysis
    neuronitis    neuroblastoma    myopathy    ataxia
    tuberculosis

    4 diseases from the University of Copenhagen DISEASES database for PNPLA6:
    Polyneuropathy     Neuropathy     Toxic encephalopathy     Paraplegia

    PNPLA6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for PNPLA6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polyneuropathy 81 44 8211998 (2), 7974486 (2), 8921348 (2), 8597094 (2) (see all 23)
    poisoning 47.3 8 10447555 (2), 8523492 (1), 8605290 (1), 8258630 (1) (see all 6)
    paralysis 45.3 8 8128641 (1), 17555296 (1), 2018554 (1), 16137924 (1) (see all 5)
    intoxication 25.6 5 8588945 (1), 8128641 (1), 19914363 (1)
    neuropathology 5.66 3 1956582 (1), 8343999 (1)
    neurological disorders 0 1 17555296 (1)
    myopathy 0 1 8588945 (1)

    Genetic Association Database (GAD): PNPLA6
    Human Genome Epidemiology (HuGE) Navigator: PNPLA6 (1 document)

    Export disorders for PNPLA6 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)
    About This Section

    PubMed articles for PNPLA6 gene, integrated from 9 sources (see all 190):
    (articles sorted by number of sources associating them with PNPLA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man. (PubMed id 9576844)1, 2, 3, 9 Lush M.J.... Glynn P. (1998)
    2. Neuropathy target esterase gene mutations cause motor neuron disease. (PubMed id 18313024)1, 2, 9 Rainier S.... Fink J.K. (2008)
    3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    4. Mammalian patatin domain containing proteins: a famil y with diverse lipolytic activities involved in multiple biological functions. (PubMed id 19029121)1, 3 Kienesberger P.C....Zechner R. (2009)
    5. Characterization of the human patatin-like phospholipase family. (PubMed id 16799181)1, 3 Wilson P.A.... Crowther D.J. (2006)
    6. Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells. (PubMed id 15044461)1, 2 Zaccheo O.... Glynn P. (2004)
    7. Degradation of neuropathy target esterase by the macroautophagic lysosomal pathway. (PubMed id 19059269)1, 9 Long D.X....Wu Y.J. (2009)
    8. Inhibition of neuropathy target esterase expressing by antisense RNA does not affect neural differentiation in human neuroblastoma (SK-N-SH) cell line. (PubMed id 16010971)1, 9 Chang P.A....Qin Q.L. (2005)
    9. Neural development and neurodegeneration: two faces of neuropathy target esterase. (PubMed id 10759065)1, 9 Glynn P. (2000)
    10. Down-regulation of neuropathy target esterase by protein kinase C activation with PMA stimulation. (PubMed id 17385009)1, 9 Chen R....Wu Y.J. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10908 HGNC: 16268 AceView: NTEandMCOLN1 Ensembl:ENSG00000032444 euGenes: HUgn10908
    ECgene: PNPLA6 Kegg: 10908 H-InvDB: PNPLA6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PNPLA6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PNPLA6 gene:
    Search GeneIP for patents involving PNPLA6

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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