PNPLA2 - patatin like phospholipase domain containing 2 Gene

Also Known as ATGL; TTS2; PEDF-R; FP17548; TTS-2.2; iPLA2zeta; 1110001C14Rik

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57104

About PNPLA2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:818,914-825,573 (from NCBI)

This gene has 6 transcripts (splice variants), 193 orthologues, 4 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 355.9), bone marrow (RPKM 27.0) and 7 other tissues.

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]

PNPLA2 Products (1)

mRNA	Protein	Name
NM_020376.4	NP_065109.1	patatin-like phospholipase domain-containing protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acylglycerol O-acyltransferase activity	IDA IDA: Inferred from direct assay	17603008	GOA
enables diolein transacylation activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables mono-olein transacylation activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables phospholipase A2 activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17032652	GOA
enables retinyl-palmitate esterase activity	EXP EXP: Inferred from Experiment	17603008	GOA
enables triacylglycerol lipase activity	EXP EXP: Inferred from Experiment	17603008	GOA
enables triacylglycerol lipase activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables triacylglycerol lipase activity	IMP IMP: Inferred from mutant phenotype	16239926	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in intracellular triglyceride homeostasis	IMP IMP: Inferred from mutant phenotype	28578400	GOA
involved in lipid droplet disassembly	IMP IMP: Inferred from mutant phenotype	16239926	GOA
acts upstream of negative effect lipid droplet fusion	IDA IDA: Inferred from direct assay	28578400	GOA
involved in negative regulation of sequestering of triglyceride	IDA IDA: Inferred from direct assay	16679289	GOA
involved in positive regulation of triglyceride catabolic process	IDA IDA: Inferred from direct assay	16679289	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in lipid droplet	IDA IDA: Inferred from direct assay	34903883	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	16239926	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17032652	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PNPLA2 Protein Structure

Patatin

0
100
200
300
400
504 a.a.

Protein Preferred Names	Protein Names
patatin-like phospholipase domain-containing protein 2	IPLA2-zeta TTS2.2 adipose triglyceride lipase calcium-independent phospholipase A2 calcium-independent phospholipase A2-zeta desnutrin mutant patatin-like phospholipase domain containing 2 pigment epithelium-derived factor pigment epithelium-derived factor receptor transport-secretion protein 2.2 triglyceride hydrolase

Recombinant PNPLA2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71600	PNPLA2 Protein, Human (His-SUMO)	Q96AD5-1 (M1-L504)	≥ 90%, as determined by reducing SDS-PAGE.

PNPLA2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80533	Adipose Triglyceride Lipase Antibody (YA637)	WB	Human, Mouse, Rat
HY-P80533A	Adipose Triglyceride Lipase Antibody (YA637)(PBS only)	WB	Human, Mouse, Rat
HY-P86317	Adipose Triglyceride Lipase Antibody (YA6009)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Lysosomal And Lipase Deficiency
Lipodystrophy, Familial Partial, Type 4	FPLD4 Plin1-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 4 Familial Partial Lipodystrophy Associated With Plin1 Mutations Plin1-Related Fpld Lipodystrophy, Familial Partial, Associated With Plin1 Mutations Lipodystrophy, Familial Partial, 4
Neutral Lipid Storage Disease With Myopathy	NLSDM Neutral Lipid Storage Disease Without Ichthyosis Neutral Lipid Storage Myopathy Neutral Lipid Storage Disease With Myopathy Without Ichthyosis Lipid, Neutral, Storage Disease With Myopathy Triglyceride Storage Disease With Ichthyosis
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Obesity , Susceptibility To Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Triglyceride Deposit Cardiomyovasculopathy	Neutral Lipid Storage Disease With Severe Cardiovascular Involvement Tgcv
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Myopathy	Muscular Diseases Myopathies
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Neurodegeneration With Brain Iron Accumulation 2a	Infantile Neuroaxonal Dystrophy Plan Seitelberger Disease Inad Infantile Neuroaxonal Dystrophy 1 Inad1 Pla2g6-Associated Neurodegeneration NBIA2A Neuroaxonal Dystrophy, Infantile Neurodegeneration, Pla2g6-Associated Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Phospholipase A2-Associated Neurodegeneration Nbia2 Pla2g6-Related Disorders Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy Karak Syndrome, Included Nbia2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation 2b Nbia, Pla2g6-Related Seitelberger'S Disease Neurodegeneration Pla2g6-Associated Dystrophy, Neuroaxonal, Infantile Neurodegeneration, With Brain Iron Accumulation, Type 2a Neuroaxonal Dystrophies Neurodegeneration With Brain Iron Accumulation 2
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Familial Spastic Paraparesis Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Diabetes Mellitus	Diabetes
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Dorfman-Chanarin Syndrome Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Osteogenesis Imperfecta, Type Vi	OI6 Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type Vi Oi Type Vi Oi Type 6 Osteogenesis Imperfecta Type Serpinfi- Related Osteogenesis Imperfecta Osteogenesis Imperfecta 6 Oi-Vi
Lysosomal Acid Lipase Deficiency	Wolman Disease Cholesteryl Ester Storage Disease Lal Deficiency Lipa Deficiency Cholesterol Ester Storage Disease CESD Cholesterol Ester Hydrolase Deficiency Acid Lipase Deficiency Acid Esterase Deficiency Familial Xanthomatosis Wolman Xanthomatosis Wolman'S Disease Wolman'S Or Triglyceride Storage Type Iii Disease Xanthomatosis, Familial Liposomal Acid Lipase Deficiency, Wolman Type Familial Visceral Xanthomatosis Primary Familial Xanthomatosis Primary Familial Xanthomatosis With Adrenal Calcification Acid Lipase Disease WOD Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Familial Partial Lipodystrophy	Lipodystrophy, Familial Partial Fpld Kobberling-Dunnigan Syndrome Dunnigan Syndrome Koberling-Dunnigan Syndrome Dunnigan-Kobberling Syndrome Fpl Familial Partial Lipodystrophy, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10791	PNPLA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10792	Pnpla2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10793	PNPLA2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PNPLA2	VGNC	VGNC:64264
Canis familiaris	PNPLA2	VGNC	VGNC:44753
Bos taurus	PNPLA2	VGNC	VGNC:33091
Rattus norvegicus	PNPLA2	RGD	RGD:1309044
Mus musculus	PNPLA2	MGD	MGI:1914103
Macaca mulatta	PNPLA2	VGNC	VGNC:107628
Others	PNPLA2	NCBI