PNPLA8 - patatin like phospholipase domain containing 8 Gene

中文名称：含 patatin 样磷脂酶结构域 8

种属: Homo sapiens

同用名: MMLA; IPLA2G; IPLA2-2; iPLA2gamma; PNPLA-gamma

基因 ID: 50640 | 基因类型: protein coding

关于 PNPLA8

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:108,470,417-108,528,178 (from NCBI)

This gene has 12 transcripts (splice variants), 278 orthologues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 15.3), adrenal (RPKM 14.6) and 25 other tissues.

功能概要

该基因编码含有 patatin 样磷脂酶结构域的蛋白质家族成员。该家族的成员是催化脂肪酸从膜磷脂裂解的磷脂酶。该基因的产物是钙非依赖性磷脂酶。该基因的突变与伴有乳酸性酸中毒的线粒体肌病有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 5 月]

This gene encodes a member of the patatin-like Phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane Phospholipids. The product of this gene is a calcium-independent Phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]

PNPLA8 基因产物(6)

mRNA	Protein	Name
NM_001256007.3	NP_001242936.1	calcium-independent phospholipase A2-gamma isoform 1
NM_001256008.3	NP_001242937.1	calcium-independent phospholipase A2-gamma isoform 1
NM_001256009.3	NP_001242938.1	calcium-independent phospholipase A2-gamma isoform 2
NM_001256010.3	NP_001242939.1	calcium-independent phospholipase A2-gamma isoform 3
NM_001256011.3	NP_001242940.1	calcium-independent phospholipase A2-gamma isoform 3
NM_015723.5	NP_056538.1	calcium-independent phospholipase A2-gamma isoform 1

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 calcium-independent phospholipase A2 activity	IDA IDA: 通过直接分析推断	10744668	GOA
enables calcium-independent phospholipase A2 activity	IMP IMP: 通过突变表型推断	28442572	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in arachidonate metabolic process	IDA IDA: 通过直接分析推断	10833412	GOA
involved in arachidonate secretion	IDA IDA: 通过直接分析推断	10833412	GOA
involved in cardiolipin metabolic process	IDA IDA: 通过直接分析推断	28442572	GOA
involved in fatty acid metabolic process	IDA IDA: 通过直接分析推断	10744668	GOA
involved in intracellular signal transduction	IDA IDA: 通过直接分析推断	15695510	GOA
involved in linoleic acid metabolic process	IDA IDA: 通过直接分析推断	15695510	GOA
involved in lipid homeostasis	IMP IMP: 通过突变表型推断	17213206	GOA
involved in phosphatidylcholine catabolic process	IDA IDA: 通过直接分析推断	15695510	GOA
involved in phosphatidylethanolamine catabolic process	IDA IDA: 通过直接分析推断	15695510	GOA
involved in prostaglandin biosynthetic process	IDA IDA: 通过直接分析推断	15695510	GOA
involved in triglyceride homeostasis	IMP IMP: 通过突变表型推断	17213206	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in membrane	IDA IDA: 通过直接分析推断	10833412	GOA
located in peroxisomal membrane	IDA IDA: 通过直接分析推断	10744668	GOA
located in peroxisome	IDA IDA: 通过直接分析推断	15695510	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

PNPLA8 蛋白结构

Patatin

0
200
400
600
782 a.a.

蛋白主名

其他名称

calcium-independent phospholipase A2-gamma

intracellular membrane-associated calcium-independent phospholipase A2 gamma

关联疾病

疾病名称

别名

Mitochondrial Myopathy With Lactic Acidosis

Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	MMLA
Metabolic Myopathy Associated With Chronic Lactic Acidemia, Growth Failure, And Nerve Deafness	Mitochondrial Myopathy-Lactic Acidosis-Hearing Loss Syndrome
Myopathy, Mitochondrial, With Lactic Acidosis

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Parkinson Disease 14, Autosomal Recessive

PARK14	Dystonia-Parkinsonism, Adult-Onset
Autosomal Recessive Parkinson Disease 14	Parkinson'S Disease 14
Dystonia-Parkinsonism Adult-Onset	Adult-Onset Dystonia-Parkinsonism
Dystonia-Parkinsonism, Paisan-Ruiz Type	Pla2g6-Related Dystonia-Parkinsonism
Parkinson Disease 14	Autosomal Recessive Parkinson'S Disease 14
Nbia/Dyt/Park-Pla2g6	Dystonia-Parkinsonism Paisan-Ruiz Type
Parkinson Disease 14 Autosomal Recessive	Parkinson Disease, Type 14

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

Myopathy

Muscular Diseases

Myopathies

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

Neuroaxonal Dystrophy

Neuroaxonal Dystrophies

Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism	Lhrh Deficiency And Ataxia
Cerebellar Ataxia-Hypogonadism Syndrome	GDHS
Cahh	Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
Gordon-Holmes Syndrome	Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia	Cerebellar Ataxia - Hypogonadism
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia	Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

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	Dorfman-Chanarin Syndrome
Dcs	Chanarin-Dorfman Disease
Ichthyosiform Erythroderma With Leukocyte Vacuolation	Lipidosis With Triglyceride Storage Disease
Disorder Of Cornification 12	Dorfman Chanarin Syndrome
Neutral Lipid Storage Disease With Ichthyotic	Dorfman-Chanarin Disease

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10799	PNPLA8 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PNPLA8	VGNC	VGNC:76126
Mus musculus	PNPLA8	MGD	MGI:1914702
Canis familiaris	PNPLA8	VGNC	VGNC:44758
Bos taurus	PNPLA8	VGNC	VGNC:33095
Felis catus	PNPLA8	VGNC	VGNC:97560
Rattus norvegicus	PNPLA8	RGD	RGD:1311444

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PNPLA8 - patatin like phospholipase domain containing 8 Gene

关于 PNPLA8

功能概要

PNPLA8 基因产物(6)

PNPLA8 蛋白结构

关联疾病

直系同源

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PNPLA8 - patatin like phospholipase domain containing 8 Gene

关于 PNPLA8

功能概要

PNPLA8 基因产物(6)

PNPLA8 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z