GGRNA Home | Help | Advanced search

2020-10-26 19:15:58, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_020376               2443 bp    mRNA    linear   PRI 02-JUN-2013
DEFINITION  Homo sapiens patatin-like phospholipase domain containing 2
            (PNPLA2), mRNA.
ACCESSION   NM_020376 XM_003120298
VERSION     NM_020376.3  GI:300796746
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2443)
  AUTHORS   Olzmann,J.A., Richter,C.M. and Kopito,R.R.
  TITLE     Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated
            lipid droplet turnover
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 110 (4), 1345-1350 (2013)
   PUBMED   23297223
  REMARK    GeneRIF: UBXD8-mediated recruitment of p97/VCP to LDs increases
            lipid droplet (LD) size by inhibiting the activity of adipose
            triglyceride lipase (ATGL), the rate-limiting enzyme in
            triacylglycerol hydrolysis.
REFERENCE   2  (bases 1 to 2443)
  AUTHORS   Tavian,D., Missaglia,S., Redaelli,C., Pennisi,E.M., Invernici,G.,
            Wessalowski,R., Maiwald,R., Arca,M. and Coleman,R.A.
  TITLE     Contribution of novel ATGL missense mutations to the clinical
            phenotype of NLSD-M: a strikingly low amount of lipase activity may
            preserve cardiac function
  JOURNAL   Hum. Mol. Genet. 21 (24), 5318-5328 (2012)
   PUBMED   22990388
  REMARK    GeneRIF: Contribution of novel ATGL missense mutations to the
            clinical phenotype of NLSD-M: a strikingly low amount of lipase
            activity may preserve cardiac function.
REFERENCE   3  (bases 1 to 2443)
  AUTHORS   Lin,P., Li,W., Wen,B., Zhao,Y., Fenster,D.S., Wang,Y., Gong,Y. and
            Yan,C.
  TITLE     Novel PNPLA2 gene mutations in Chinese Han patients causing neutral
            lipid storage disease with myopathy
  JOURNAL   J. Hum. Genet. 57 (10), 679-681 (2012)
   PUBMED   22832386
  REMARK    GeneRIF: PNPLA2 gene mutations are responsible for neutral lipid
            storage disease with myopathy in Chinese Han patients.
REFERENCE   4  (bases 1 to 2443)
  AUTHORS   Mason,R.R., Meex,R.C., Lee-Young,R., Canny,B.J. and Watt,M.J.
  TITLE     Phosphorylation of adipose triglyceride lipase Ser(404) is not
            related to 5'-AMPK activation during moderate-intensity exercise in
            humans
  JOURNAL   Am. J. Physiol. Endocrinol. Metab. 303 (4), E534-E541 (2012)
   PUBMED   22713505
  REMARK    GeneRIF: The results demonstrated that adipose triglyceride lipase
            Ser(404) phosphorylation is not increased in mixed skeletal muscle
            during moderate-intensity exercise and that AMPK does not appear to
            be an activating kinase for ATGL Ser(404) in skeletal muscle.
REFERENCE   5  (bases 1 to 2443)
  AUTHORS   Ogasawara,J., Sakurai,T., Kizaki,T., Ishibashi,Y., Izawa,T.,
            Sumitani,Y., Ishida,H., Radak,Z., Haga,S. and Ohno,H.
  TITLE     Higher levels of ATGL are associated with exercise-induced
            enhancement of lipolysis in rat epididymal adipocytes
  JOURNAL   PLoS ONE 7 (7), E40876 (2012)
   PUBMED   22815850
  REMARK    GeneRIF: These data suggest that elevated levels of ATGL are
            involved in the exercise-induced enhancement of lipolysis in
            primary adipocytes.
REFERENCE   6  (bases 1 to 2443)
  AUTHORS   Smirnova,E., Goldberg,E.B., Makarova,K.S., Lin,L., Brown,W.J. and
            Jackson,C.L.
  TITLE     ATGL has a key role in lipid droplet/adiposome degradation in
            mammalian cells
  JOURNAL   EMBO Rep. 7 (1), 106-113 (2006)
   PUBMED   16239926
  REMARK    GeneRIF: Results show that adipose triglyceride lipase has an
            important role in lipid droplet/adiposome turnover
REFERENCE   7  (bases 1 to 2443)
  AUTHORS   Zimmermann,R., Strauss,J.G., Haemmerle,G., Schoiswohl,G.,
            Birner-Gruenberger,R., Riederer,M., Lass,A., Neuberger,G.,
            Eisenhaber,F., Hermetter,A. and Zechner,R.
  TITLE     Fat mobilization in adipose tissue is promoted by adipose
            triglyceride lipase
  JOURNAL   Science 306 (5700), 1383-1386 (2004)
   PUBMED   15550674
  REMARK    GeneRIF: reported that adipose triglyceride lipase (ATGL),
            catalyzes the initial step in triglyceride hydrolysis; ATGL and
            hormone-sensitive lipase (HSL) coordinately catabolize stored
            triglycerides in adipose tissue [ATGL]
REFERENCE   8  (bases 1 to 2443)
  AUTHORS   Jenkins,C.M., Mancuso,D.J., Yan,W., Sims,H.F., Gibson,B. and
            Gross,R.W.
  TITLE     Identification, cloning, expression, and purification of three
            novel human calcium-independent phospholipase A2 family members
            possessing triacylglycerol lipase and acylglycerol transacylase
            activities
  JOURNAL   J. Biol. Chem. 279 (47), 48968-48975 (2004)
   PUBMED   15364929
  REMARK    GeneRIF: iPLA2epsilon (adiponutrin), iPLA2zeta (TTS-2.2), and
            iPLA2eta (GS2) are three novel TAG lipases/acylglycerol
            transacylases that likely participate in TAG hydrolysis and the
            acyl-CoA independent transacylation of acylglycerols
REFERENCE   9  (bases 1 to 2443)
  AUTHORS   Villena,J.A., Roy,S., Sarkadi-Nagy,E., Kim,K.H. and Sul,H.S.
  TITLE     Desnutrin, an adipocyte gene encoding a novel patatin
            domain-containing protein, is induced by fasting and
            glucocorticoids: ectopic expression of desnutrin increases
            triglyceride hydrolysis
  JOURNAL   J. Biol. Chem. 279 (45), 47066-47075 (2004)
   PUBMED   15337759
REFERENCE   10 (bases 1 to 2443)
  AUTHORS   Hobart,M.J., Fernie,B.A., Stanley,K.K. and Lachmann,P.J.
  TITLE     C6 epitope expression by an unrelated antisense cDNA clone: an
            inadvertent surface-simulation mimotope
  JOURNAL   Proc. Biol. Sci. 252 (1334), 157-162 (1993)
   PUBMED   7686673
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006621.1, BC017280.2 and
            BC011958.1.
            This sequence is a reference standard in the RefSeqGene project.
            On or before Jan 4, 2011 this sequence version replaced
            gi:310118084, gi:34147340.
            
            Summary: This gene encodes an enzyme which catalyzes the first step
            in the hydrolysis of triglycerides in adipose tissue. Mutations in
            this gene are associated with neutral lipid storage disease with
            myopathy. [provided by RefSeq, Jul 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HQ651812.1, BC017280.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025087 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AP006621.1         113796-113796
            2-1075              BC017280.2         1-1074
            1076-1076           AP006621.1         118704-118704
            1077-2073           BC017280.2         1076-2072
            2074-2443           BC011958.1         1458-1827
FEATURES             Location/Qualifiers
     source          1..2443
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2443
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="patatin-like phospholipase domain containing 2"
                     /db_xref="GeneID:57104"
                     /db_xref="HGNC:30802"
                     /db_xref="HPRD:11443"
                     /db_xref="MIM:609059"
     exon            1..58
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    36..38
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="upstream in-frame stop codon"
     exon            59..390
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       173
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371274033"
     CDS             204..1718
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /EC_number="3.1.1.3"
                     /note="pigment epithelium-derived factor;
                     transport-secretion protein 2.2; patatin-like
                     phospholipase domain containing protein 2; desnutrin;
                     triglyceride hydrolase; adipose triglyceride lipase;
                     TTS2.2; IPLA2-zeta; calcium-independent phospholipase A2"
                     /codon_start=1
                     /product="patatin-like phospholipase domain-containing
                     protein 2"
                     /protein_id="NP_065109.1"
                     /db_xref="GI:32698724"
                     /db_xref="CCDS:CCDS7718.1"
                     /db_xref="GeneID:57104"
                     /db_xref="HGNC:30802"
                     /db_xref="HPRD:11443"
                     /db_xref="MIM:609059"
                     /translation="
MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTATALVTGVCLGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQLAGPAPLLSTPAPEARPVIGALGL
"
     misc_feature    213..959
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="Patatin-like phospholipase domain containing
                     protein 2; Region: Pat_PNPLA2; cd07220"
                     /db_xref="CDD:132859"
     misc_feature    228..290
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AD5.1);
                     transmembrane region"
     misc_feature    order(246..251,255..257,342..344,699..701)
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="active site"
                     /db_xref="CDD:132859"
     misc_feature    336..350
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96AD5.1);
                     Region: GXSXG"
     misc_feature    336..350
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="nucleophile elbow; other site"
                     /db_xref="CDD:132859"
     misc_feature    1413..1415
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by PKA; propagated from
                     UniProtKB/Swiss-Prot (Q96AD5.1); phosphorylation site"
     misc_feature    1485..1487
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96AD5.1); phosphorylation site"
     variation       224
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368575770"
     variation       233
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:192598547"
     variation       257
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374278877"
     variation       272
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368196727"
     variation       275
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141027293"
     exon            391..623
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     STS             407..506
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /standard_name="A009K14"
                     /db_xref="UniSTS:59101"
     STS             407..506
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /standard_name="G32609"
                     /db_xref="UniSTS:117192"
     variation       433
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373487598"
     variation       438
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371871714"
     variation       439
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139576982"
     variation       449
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200701730"
     variation       453
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149334466"
     variation       486
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143443756"
     variation       494
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370529626"
     variation       520
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147988588"
     variation       529
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200683247"
     variation       541
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145999340"
     variation       563
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141674273"
     variation       572
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142174851"
     variation       573
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377534825"
     variation       575
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140052906"
     variation       595
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139202485"
     variation       602
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143992505"
     variation       611
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371125971"
     variation       612
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375693983"
     exon            624..689
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       650
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61740111"
     variation       670
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200260812"
     exon            690..899
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       695
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147314508"
     variation       700
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121908832"
     variation       730
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141014055"
     variation       767
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149864883"
     variation       787
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121918259"
     variation       788
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111788298"
     variation       794
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200897893"
     variation       810
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370727999"
     variation       812
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199847643"
     variation       819
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145699347"
     variation       842
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370223018"
     variation       858
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140612115"
     variation       862..863
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace=""
                     /replace="cccccccccc"
                     /db_xref="dbSNP:146660461"
     variation       881
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10902224"
     variation       890
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371893260"
     exon            900..960
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       900
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142852995"
     variation       905
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:146584016"
     variation       929
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144220751"
     variation       935
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:145966476"
     variation       950
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140959695"
     variation       959
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140201358"
     exon            961..1122
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       966
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372502231"
     variation       981
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145910728"
     variation       996
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:56152088"
     variation       1002
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199992922"
     variation       1009
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201894536"
     variation       1018
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200993304"
     variation       1047
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146739862"
     variation       1054
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369213107"
     variation       1062
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373510143"
     variation       1066
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200088893"
     variation       1068
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121918260"
     variation       1076
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1135628"
     variation       1092
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368987427"
     variation       1100
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376781834"
     variation       1106
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141190104"
     variation       1121
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201065998"
     exon            1123..1255
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       1146
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150385364"
     variation       1167
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137866968"
     variation       1213
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370723127"
     variation       1235
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373862598"
     variation       1244
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374131475"
     exon            1256..1378
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       1342
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:372164277"
     variation       1352
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150770244"
     variation       1370
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11554663"
     exon            1379..2429
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:1.39.8"
     variation       1384
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373114735"
     variation       1385
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374839788"
     variation       1407
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143718036"
     variation       1420
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370098225"
     variation       1423
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202081894"
     variation       1440
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147465559"
     variation       1447
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370827824"
     variation       1480
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140634178"
     variation       1496
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61876745"
     variation       1498
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145821408"
     variation       1512
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144447952"
     variation       1530
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:182948893"
     variation       1539
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368507289"
     variation       1567
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187668158"
     variation       1568
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370430327"
     variation       1609
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201177082"
     variation       1611
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374358848"
     variation       1633
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142588621"
     variation       1645
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1138693"
     variation       1661
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1138694"
     variation       1669
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201573098"
     variation       1742
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184740510"
     variation       1844..1847
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace=""
                     /replace="tgca"
                     /db_xref="dbSNP:66460720"
     variation       1849..1852
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace=""
                     /replace="gcac"
                     /db_xref="dbSNP:71744696"
     variation       1854..1855
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:71464116"
     variation       1857
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:71464117"
     variation       1966
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1138714"
     variation       2006
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:117804986"
     variation       2020
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189155123"
     variation       2041
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:76550182"
     variation       2042
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:75249344"
     variation       2052
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192197577"
     polyA_signal    2056..2061
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
     polyA_site      2073
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="The 3' most polyA site has not been determined.
                     This is the major polyA site."
     polyA_site      2084
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
     variation       2101
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139951562"
     variation       2180
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112328387"
     variation       2197
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184629044"
     variation       2247
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189487691"
     variation       2285
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143923514"
     variation       2288
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:181357653"
     variation       2314
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:74045166"
     variation       2338
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:184301936"
     variation       2364
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12802620"
     variation       2367
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113432457"
ORIGIN      
ggcggccccagtcagacgcaggcagccccaaagcctgaacaggcagggccagacccagcttcttcgcctccgccagcggggaccccgagctagagccgcagcgggacctgcccggcccccggctccagcgagcgagcggcgagcaggcggctcacagaggcctggccgcccacggaacccggggcccggcggccgccgccgcgatgtttccccgcgagaagacgtggaacatctcgttcgcgggctgcggcttcctcggcgtctactacgtcggcgtggcctcctgcctccgcgagcacgcgcccttcctggtggccaacgccacgcacatctacggcgcctcggccggggcgctcacggccacggcgctggtcaccggggtctgcctgggtgaggctggtgccaagttcattgaggtatctaaagaggcccggaagcggttcctgggccccctgcacccctccttcaacctggtaaagatcatccgcagtttcctgctgaaggtcctgcctgctgatagccatgagcatgccagtgggcgcctgggcatctccctgacccgcgtgtcagacggcgagaatgtcattatatcccacttcaactccaaggacgagctcatccaggccaatgtctgcagcggtttcatccccgtgtactgtgggctcatccctccctccctccagggggtgcgctacgtggatggtggcatttcagacaacctgccactctatgagcttaagaacaccatcacagtgtcccccttctcgggcgagagtgacatctgtccgcaggacagctccaccaacatccacgagctgcgggtcaccaacaccagcatccagttcaacctgcgcaacctctaccgcctctccaaggccctcttcccgccggagcccctggtgctgcgagagatgtgcaagcagggataccgggatggcctgcgctttctgcagcggaacggcctcctgaaccggcccaaccccttgctggcgttgccccccgcccgcccccacggcccagaggacaaggaccaggcagtggagagcgcccaagcggaggattactcgcagctgcccggagaagatcacatcctggagcacctgcccgcccggctcaatgaggccctgctggaggcctgcgtggagcccacggacctgctgaccaccctctccaacatgctgcctgtgcgtctggccacggccatgatggtgccctacacgctgccgctggagagcgctctgtccttcaccatccgcttgctggagtggctgcccgacgttcccgaggacatccggtggatgaaggagcagacgggcagcatctgccagtacctggtgatgcgcgccaagaggaagctgggcaggcacctgccctccaggctgccggagcaggtggagctgcgccgcgtccagtcgctgccgtccgtgccgctgtcctgcgccgcctacagagaggcactgcccggctggatgcgcaacaacctctcgctgggggacgcgctggccaagtgggaggagtgccagcgccagctgctgctcggcctcttctgcaccaacgtggccttcccgcccgaagctctgcgcatgcgcgcacccgccgacccggctcccgcccccgcggacccagcatccccgcagcaccagctggccgggcctgcccccttgctgagcacccctgctcccgaggcccggcccgtgatcggggccctggggctgtgagaccccgaccctctcgaggaaccctgcctgagacgcctccattaccactgcgcagtgagatgaggggactcacagttgccaagaggggtctttgccgtgggccccctcgccagccactcaccagctgcatgcactgagaggggaggtttccacacccctcccctgggccgctgaggccccgcgcacctgtgccttaatcttccctcccctgtgctgcccgagcacctcccccgcccctttactcctgagaactttgcagctgcccttccctccccgtttttcatggcctgctgaaatatgtgtgtgaagaattatttattttcgccaaagcacatgtaataaatgctgcagcccagcctctgcccactttgtgtgtatgtgaccgcctgcttacttgcagtgagagcctggtggccagggtctggccctaccttggctgaccagcctctccacagctgcaggccaggtctcccagcgtcgcactcctgggcctggcatttggaacctgccaggctggcctgggaacacccccctacaggcacatatgaacgtactgcattcctgccgacccccctgtctaggatgcatccacaccccccccaattttgcccagcagcctcctggctgacccttggccacagccttctgagggccaatggaaatatttgggaccaagattcttggtaaataaaaacgaaaatgtttgcaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:57104 -> Molecular function: GO:0004806 [triglyceride lipase activity] evidence: ISS
            GeneID:57104 -> Molecular function: GO:0050253 [retinyl-palmitate esterase activity] evidence: IEA
            GeneID:57104 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: TAS
            GeneID:57104 -> Biological process: GO:0010891 [negative regulation of sequestering of triglyceride] evidence: IDA
            GeneID:57104 -> Biological process: GO:0010898 [positive regulation of triglyceride catabolic process] evidence: IDA
            GeneID:57104 -> Biological process: GO:0019433 [triglyceride catabolic process] evidence: IEA
            GeneID:57104 -> Biological process: GO:0036155 [acylglycerol acyl-chain remodeling] evidence: TAS
            GeneID:57104 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:57104 -> Biological process: GO:0046474 [glycerophospholipid biosynthetic process] evidence: TAS
            GeneID:57104 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
            GeneID:57104 -> Cellular component: GO:0005811 [lipid particle] evidence: IEA
            GeneID:57104 -> Cellular component: GO:0005829 [cytosol] evidence: IEA
            GeneID:57104 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:57104 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_065109 -> EC 3.1.1.3

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.