LOCUS       NM_020376               2416 bp    mRNA    linear   PRI 19-FEB-2025
DEFINITION  Homo sapiens patatin like domain 2, triacylglycerol lipase
            (PNPLA2), mRNA.
ACCESSION   NM_020376 XM_003120298
VERSION     NM_020376.4
KEYWORDS    RefSeq; MANE Select.
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 2416)
  AUTHORS   Li,W., Liu,Q., Qian,Y., Wang,C., Kong,C., Sun,L., Sun,L., Liu,H.,
            Zhang,Y., Jiang,D., Jiang,C., Wang,S. and Xia,P.
  TITLE     Adipose triglyceride lipase suppresses noncanonical inflammasome by
            hydrolyzing LPS
  JOURNAL   Nat Chem Biol 20 (11), 1434-1442 (2024)
   PUBMED   38413746
  REMARK    GeneRIF: Adipose triglyceride lipase suppresses noncanonical
            inflammasome by hydrolyzing LPS.
REFERENCE   2  (bases 1 to 2416)
  AUTHORS   Kondkar,A.A., Azad,T.A., Sultan,T., Khatlani,T., Alshehri,A.A.,
            Lobo,G.P., Kalantan,H., Al-Obeidan,S.A. and Al-Muammar,A.M.
  TITLE     Association between Polymorphism rs61876744 in PNPLA2 Gene and
            Keratoconus in a Saudi Cohort
  JOURNAL   Genes (Basel) 14 (12), 2108 (2023)
   PUBMED   38136930
  REMARK    GeneRIF: Association between Polymorphism rs61876744 in PNPLA2 Gene
            and Keratoconus in a Saudi Cohort.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2416)
  AUTHORS   Su,B.C., Xiao,K.M., Wang,K.L., Yang,S.F., Huang,Z.X. and Luo,J.W.
  TITLE     ATGL promotes colorectal cancer growth by regulating autophagy
            process and SIRT1 expression
  JOURNAL   Med Oncol 40 (12), 350 (2023)
   PUBMED   37935950
  REMARK    GeneRIF: ATGL promotes colorectal cancer growth by regulating
            autophagy process and SIRT1 expression.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2416)
  AUTHORS   Rossi,T., Zamponi,R., Chirico,M., Pisanu,M.E., Iorio,E.,
            Torricelli,F., Gugnoni,M., Ciarrocchi,A. and Pistoni,M.
  TITLE     BETi enhance ATGL expression and its lipase activity to exert their
            antitumoral effects in triple-negative breast cancer (TNBC) cells
  JOURNAL   J Exp Clin Cancer Res 42 (1), 7 (2023)
   PUBMED   36604676
  REMARK    GeneRIF: BETi enhance ATGL expression and its lipase activity to
            exert their antitumoral effects in triple-negative breast cancer
            (TNBC) cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2416)
  AUTHORS   Patel,R., Santoro,A., Hofer,P., Tan,D., Oberer,M., Nelson,A.T.,
            Konduri,S., Siegel,D., Zechner,R., Saghatelian,A. and Kahn,B.B.
  TITLE     ATGL is a biosynthetic enzyme for fatty acid esters of hydroxy
            fatty acids
  JOURNAL   Nature 606 (7916), 968-975 (2022)
   PUBMED   35676490
  REMARK    GeneRIF: ATGL is a biosynthetic enzyme for fatty acid esters of
            hydroxy fatty acids.
REFERENCE   6  (bases 1 to 2416)
  AUTHORS   Lake,A.C., Sun,Y., Li,J.L., Kim,J.E., Johnson,J.W., Li,D.,
            Revett,T., Shih,H.H., Liu,W., Paulsen,J.E. and Gimeno,R.E.
  TITLE     Expression, regulation, and triglyceride hydrolase activity of
            Adiponutrin family members
  JOURNAL   J Lipid Res 46 (11), 2477-2487 (2005)
   PUBMED   16150821
REFERENCE   7  (bases 1 to 2416)
  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 2416)
  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 2416)
  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 2416)
  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 BC017280.2, AP006621.1 and
            BC011958.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020376.3.
            
            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, JF279441.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336615.9/ ENSP00000337701.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1062              BC017280.2         13-1074
            1063-1063           AP006621.1         118704-118704
            1064-2060           BC017280.2         1076-2072
            2061-2416           BC011958.1         1458-1813
FEATURES             Location/Qualifiers
     source          1..2416
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2416
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="patatin like domain 2, triacylglycerol lipase"
                     /db_xref="GeneID:57104"
                     /db_xref="HGNC:HGNC:30802"
                     /db_xref="MIM:609059"
     exon            1..45
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            46..377
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..1705
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.4"
                     /note="pigment epithelium-derived factor;
                     transport-secretion protein 2.2; desnutrin; triglyceride
                     hydrolase; adipose triglyceride lipase; TTS2.2;
                     IPLA2-zeta; calcium-independent phospholipase A2; patatin
                     like phospholipase domain containing 2; mutant
                     patatin-like phospholipase domain containing 2;
                     calcium-independent phospholipase A2-zeta; pigment
                     epithelium-derived factor receptor"
                     /codon_start=1
                     /product="patatin-like phospholipase domain-containing
                     protein 2"
                     /protein_id="NP_065109.1"
                     /db_xref="CCDS:CCDS7718.1"
                     /db_xref="GeneID:57104"
                     /db_xref="HGNC:HGNC:30802"
                     /db_xref="MIM:609059"
                     /translation="MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIY
                     GASAGALTATALVTGVCLGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKVL
                     PADSHEHASGRLGISLTRVSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQ
                     GVRYVDGGISDNLPLYELKNTITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRN
                     LYRLSKALFPPEPLVLREMCKQGYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKD
                     QAVESAQAEDYSQLPGEDHILEHLPARLNEALLEACVEPTDLLTTLSNMLPVRLATAM
                     MVPYTLPLESALSFTIRLLEWLPDVPEDIRWMKEQTGSICQYLVMRAKRKLGRHLPSR
                     LPEQVELRRVQSLPSVPLSCAAYREALPGWMRNNLSLGDALAKWEECQRQLLLGLFCT
                     NVAFPPEALRMRAPADPAPAPADPASPQHQLAGPAPLLSTPAPEARPVIGALGL"
     exon            378..610
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            611..676
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            677..886
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            887..947
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1109
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1242
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1365
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..2416
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2043..2048
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="hexamer: AATAAA"
     polyA_site      2060
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="major polyA site"
     regulatory      2392..2397
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
                     /note="hexamer: AATAAA"
     polyA_site      2416
                     /gene="PNPLA2"
                     /gene_synonym="1110001C14Rik; ATGL; FP17548; iPLA2zeta;
                     PEDF-R; TTS-2.2; TTS2"
ORIGIN      
        1 agacgcaggc agccccaaag cctgaacagg cagggccaga cccagcttct tcgcctccgc
       61 cagcggggac cccgagctag agccgcagcg ggacctgccc ggcccccggc tccagcgagc
      121 gagcggcgag caggcggctc acagaggcct ggccgcccac ggaacccggg gcccggcggc
      181 cgccgccgcg atgtttcccc gcgagaagac gtggaacatc tcgttcgcgg gctgcggctt
      241 cctcggcgtc tactacgtcg gcgtggcctc ctgcctccgc gagcacgcgc ccttcctggt
      301 ggccaacgcc acgcacatct acggcgcctc ggccggggcg ctcacggcca cggcgctggt
      361 caccggggtc tgcctgggtg aggctggtgc caagttcatt gaggtatcta aagaggcccg
      421 gaagcggttc ctgggccccc tgcacccctc cttcaacctg gtaaagatca tccgcagttt
      481 cctgctgaag gtcctgcctg ctgatagcca tgagcatgcc agtgggcgcc tgggcatctc
      541 cctgacccgc gtgtcagacg gcgagaatgt cattatatcc cacttcaact ccaaggacga
      601 gctcatccag gccaatgtct gcagcggttt catccccgtg tactgtgggc tcatccctcc
      661 ctccctccag ggggtgcgct acgtggatgg tggcatttca gacaacctgc cactctatga
      721 gcttaagaac accatcacag tgtccccctt ctcgggcgag agtgacatct gtccgcagga
      781 cagctccacc aacatccacg agctgcgggt caccaacacc agcatccagt tcaacctgcg
      841 caacctctac cgcctctcca aggccctctt cccgccggag cccctggtgc tgcgagagat
      901 gtgcaagcag ggataccggg atggcctgcg ctttctgcag cggaacggcc tcctgaaccg
      961 gcccaacccc ttgctggcgt tgccccccgc ccgcccccac ggcccagagg acaaggacca
     1021 ggcagtggag agcgcccaag cggaggatta ctcgcagctg cccggagaag atcacatcct
     1081 ggagcacctg cccgcccggc tcaatgaggc cctgctggag gcctgcgtgg agcccacgga
     1141 cctgctgacc accctctcca acatgctgcc tgtgcgtctg gccacggcca tgatggtgcc
     1201 ctacacgctg ccgctggaga gcgctctgtc cttcaccatc cgcttgctgg agtggctgcc
     1261 cgacgttccc gaggacatcc ggtggatgaa ggagcagacg ggcagcatct gccagtacct
     1321 ggtgatgcgc gccaagagga agctgggcag gcacctgccc tccaggctgc cggagcaggt
     1381 ggagctgcgc cgcgtccagt cgctgccgtc cgtgccgctg tcctgcgccg cctacagaga
     1441 ggcactgccc ggctggatgc gcaacaacct ctcgctgggg gacgcgctgg ccaagtggga
     1501 ggagtgccag cgccagctgc tgctcggcct cttctgcacc aacgtggcct tcccgcccga
     1561 agctctgcgc atgcgcgcac ccgccgaccc ggctcccgcc cccgcggacc cagcatcccc
     1621 gcagcaccag ctggccgggc ctgccccctt gctgagcacc cctgctcccg aggcccggcc
     1681 cgtgatcggg gccctggggc tgtgagaccc cgaccctctc gaggaaccct gcctgagacg
     1741 cctccattac cactgcgcag tgagatgagg ggactcacag ttgccaagag gggtctttgc
     1801 cgtgggcccc ctcgccagcc actcaccagc tgcatgcact gagaggggag gtttccacac
     1861 ccctcccctg ggccgctgag gccccgcgca cctgtgcctt aatcttccct cccctgtgct
     1921 gcccgagcac ctcccccgcc cctttactcc tgagaacttt gcagctgccc ttccctcccc
     1981 gtttttcatg gcctgctgaa atatgtgtgt gaagaattat ttattttcgc caaagcacat
     2041 gtaataaatg ctgcagccca gcctctgccc actttgtgtg tatgtgaccg cctgcttact
     2101 tgcagtgaga gcctggtggc cagggtctgg ccctaccttg gctgaccagc ctctccacag
     2161 ctgcaggcca ggtctcccag cgtcgcactc ctgggcctgg catttggaac ctgccaggct
     2221 ggcctgggaa caccccccta caggcacata tgaacgtact gcattcctgc cgacccccct
     2281 gtctaggatg catccacacc ccccccaatt ttgcccagca gcctcctggc tgacccttgg
     2341 ccacagcctt ctgagggcca atggaaatat ttgggaccaa gattcttggt aaataaaaac
     2401 gaaaatgttt gcaaaa
//
