2025-05-09 16:59:53, 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 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
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@meso_cacase at
DBCLS
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