1. Gene
  2. PNPLA2 - patatin like phospholipase domain containing 2 Gene

PNPLA2 - patatin like phospholipase domain containing 2 Gene

中文名称:含 patatin 样磷脂酶结构域 2

种属: Homo sapiens

同用名: ATGL; TTS2; PEDF-R; FP17548; TTS-2.2; iPLA2zeta; 1110001C14Rik

基因 ID: 57104 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种酶,该酶催化脂肪组织中甘油三酯水解的第一步。该基因的突变与伴有肌病的中性脂质贮积病有关。[RefSeq 提供,2010 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_020376.4 NP_065109.1 patatin-like phospholipase domain-containing protein 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables acylglycerol O-acyltransferase activity IDA
IDA: 通过直接分析推断
17603008 GOA
enables diolein transacylation activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables mono-olein transacylation activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables phospholipase A2 activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17032652 GOA
enables retinyl-palmitate esterase activity EXP
EXP: 通过实验结果推断
17603008 GOA
enables triacylglycerol lipase activity EXP
EXP: 通过实验结果推断
17603008 GOA
enables triacylglycerol lipase activity IDA
IDA: 通过直接分析推断
15364929 GOA
enables triacylglycerol lipase activity IMP
IMP: 通过突变表型推断
16239926 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular triglyceride homeostasis IMP
IMP: 通过突变表型推断
28578400 GOA
involved in lipid droplet disassembly IMP
IMP: 通过突变表型推断
16239926 GOA
acts upstream of negative effect lipid droplet fusion IDA
IDA: 通过直接分析推断
28578400 GOA
involved in negative regulation of sequestering of triglyceride IDA
IDA: 通过直接分析推断
16679289 GOA
involved in positive regulation of triglyceride catabolic process IDA
IDA: 通过直接分析推断
16679289 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in lipid droplet IDA
IDA: 通过直接分析推断
34903883 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
16239926 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17032652 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PNPLA2 蛋白结构

Patatin

Patatin: Patatin-like phospholipase (11 - 176)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
蛋白主名 其他名称

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

重组 PNPLA2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71600 PNPLA2 Protein, Human (His-SUMO) Q96AD5-1 (M1-L504) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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