PNPLA2 - patatin like phospholipase domain containing 2 Gene

Homo sapiens

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

Gene ID: 57104 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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)	≥95%

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

Bioactive Molecules (3)

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

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