Human Gene PNPLA2 (ENST00000336615.9) from GENCODE V44
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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ID: PLPL2_HUMAN
DESCRIPTION: RecName: Full=Patatin-like phospholipase domain-containing protein 2; EC=3.1.1.3; AltName: Full=Adipose triglyceride lipase; AltName: Full=Calcium-independent phospholipase A2; AltName: Full=Desnutrin; AltName: Full=IPLA2-zeta; AltName: Full=Pigment epithelium-derived factor; AltName: Full=TTS2.2; AltName: Full=Transport-secretion protein 2; Short=TTS2;
FUNCTION: Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Also has acylglycerol transacylase activity. May act coordinately with LIPE/HLS within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion. CATALYTIC ACTIVITY: Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. ENZYME REGULATION: Inhibited by BEL ((E)-6-(bromomethylene)-3-(1- naphthalenyl)-2H-tetrahydropyran-2-one), a suicide substrate inhibitor. No differences in enzymatic activity that uses (1,2- dilinoleoyl)-phosphatidylcholine as substrate was detected in the presence or absence of ATP. Activated by ABHD5 and SERPINF1. BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7.5 with (1,2-dilinoleoyl)-phosphatidylcholine as substrate; PATHWAY: Glycerolipid metabolism; triacylglycerol degradation. SUBUNIT: Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity (By similarity). Interacts with SERPINF1; interacts at one site of interaction. Despite a colocalization in lipid droplets, it probably does not interact with PLIN (By similarity). SUBCELLULAR LOCATION: Lipid droplet. Cell membrane; Single-pass type II membrane protein. TISSUE SPECIFICITY: Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). DEVELOPMENTAL STAGE: Induced during differentiation of primary preadipocytes to adipocytes. Expression increased from fetal to adult in retinal pigment epithelium. POLYMORPHISM: Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. DISEASE: Note=Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. DISEASE: Defects in PNPLA2 are the cause of neutral lipid storage disease with myopathy (NLSDM) [MIM:610717]; also known as neutral lipid storage disease without ichthyosis. NSLDM is a neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. SIMILARITY: Contains 1 patatin domain. SEQUENCE CAUTION: Sequence=AAP34448.1; Type=Frameshift; Positions=501; Sequence=CAC01131.1; Type=Erroneous initiation; Sequence=CAC01132.1; Type=Erroneous initiation;
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Primer design for this transcript
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MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure IPR016035 - Acyl_Trfase/lysoPLipase
IPR002641 - Patatin/PLipase_A2-rel
Pfam Domains: PF01734 - Patatin-like phospholipase
ModBase Predicted Comparative 3D Structure on Q96AD5
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Orthologous Genes in Other Species
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Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Descriptions from all associated GenBank mRNAs
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HQ651812 - Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2) mRNA, complete cds. JF279441 - Homo sapiens nonfunctional patatin-like phospholipase domain containing protein 2 (ATGL) mRNA, complete sequence. JF279442 - Homo sapiens patatin-like phospholipase domain containing protein 2 (ATGL) mRNA, complete cds. KF601369 - Homo sapiens patatin-like phospholipase domain-containing protein 2 (PNPLA2) mRNA, complete cds. BC017280 - Homo sapiens patatin-like phospholipase domain containing 2, mRNA (cDNA clone MGC:29650 IMAGE:4875483), complete cds. LF207970 - JP 2014500723-A/15473: Polycomb-Associated Non-Coding RNAs. MA443547 - JP 2018138019-A/15473: Polycomb-Associated Non-Coding RNAs. AK308435 - Homo sapiens cDNA, FLJ98383. AJ278475 - Homo sapiens partial mRNA for transport-secretion protein 2.1 (TTS-2.1 gene). AJ278476 - Homo sapiens partial mRNA for transport-secretion protein 2.2, (TTS-2.2 gene). AB527798 - Synthetic construct DNA, clone: pF1KB5911, Homo sapiens PNPLA2 gene for patatin-like phospholipase domain containing protein 2, without stop codon, in Flexi system. CU677897 - Synthetic construct Homo sapiens gateway clone IMAGE:100019710 5' read PNPLA2 mRNA. KU139129 - Homo sapiens nonfunctional patatin-like phospholipase domain containing 2 variant (PNPLA2) mRNA, complete sequence. KJ899303 - Synthetic construct Homo sapiens clone ccsbBroadEn_08697 PNPLA2 gene, encodes complete protein. AY894804 - Homo sapiens adipose triglyceride lipase (ATGL) mRNA, complete cds. KF833264 - Homo sapiens patatin-like phospholipase domain-containing protein 2 (PNPLA2) mRNA, complete cds. KF833265 - Homo sapiens patatin-like phospholipase domain-containing protein 2 (PNPLA2) mRNA, complete cds. KU139128 - Homo sapiens patatin-like phospholipase domain containing 2 variant (PNPLA2) mRNA, complete cds. AY203925 - Homo sapiens FP17548 mRNA, complete cds. JD020468 - Sequence 1492 from Patent EP1572962. JD033789 - Sequence 14813 from Patent EP1572962. AF055000 - Homo sapiens clone 24519 unknown mRNA, partial cds. BC011958 - Homo sapiens patatin-like phospholipase domain containing 2, mRNA (cDNA clone IMAGE:4158010), partial cds. JD023883 - Sequence 4907 from Patent EP1572962. JD036253 - Sequence 17277 from Patent EP1572962. LF370577 - JP 2014500723-A/178080: Polycomb-Associated Non-Coding RNAs. MA606154 - JP 2018138019-A/178080: Polycomb-Associated Non-Coding RNAs. AL833707 - Homo sapiens mRNA; cDNA DKFZp667M109 (from clone DKFZp667M109). LF370578 - JP 2014500723-A/178081: Polycomb-Associated Non-Coding RNAs. MA606155 - JP 2018138019-A/178081: Polycomb-Associated Non-Coding RNAs. LF370579 - JP 2014500723-A/178082: Polycomb-Associated Non-Coding RNAs. MA606156 - JP 2018138019-A/178082: Polycomb-Associated Non-Coding RNAs. JD206009 - Sequence 187033 from Patent EP1572962. JD051037 - Sequence 32061 from Patent EP1572962. JD129413 - Sequence 110437 from Patent EP1572962. JD282224 - Sequence 263248 from Patent EP1572962. JD391410 - Sequence 372434 from Patent EP1572962. JD394366 - Sequence 375390 from Patent EP1572962. JD394017 - Sequence 375041 from Patent EP1572962. JD400114 - Sequence 381138 from Patent EP1572962. LF370580 - JP 2014500723-A/178083: Polycomb-Associated Non-Coding RNAs. MA606157 - JP 2018138019-A/178083: Polycomb-Associated Non-Coding RNAs.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: ATGL, ENST00000336615.1, ENST00000336615.2, ENST00000336615.3, ENST00000336615.4, ENST00000336615.5, ENST00000336615.6, ENST00000336615.7, ENST00000336615.8, FP17548, NM_020376, O60643, PLPL2_HUMAN, Q5EFF5, Q6XYE5, Q96AD5, Q96ET6, Q9NQ61, Q9NQ62, uc001lrt.1, uc001lrt.2, uc001lrt.3, uc001lrt.4, uc001lrt.5 UCSC ID: ENST00000336615.9 RefSeq Accession: NM_020376
Protein: Q96AD5
(aka PLPL2_HUMAN)
CCDS: CCDS7718.1
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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