PNPLA8 - patatin like phospholipase domain containing 8 Gene

Also Known as MMLA; IPLA2G; IPLA2-2; iPLA2gamma; PNPLA-gamma

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 50640

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables calcium-independent phospholipase A2 activity	IDA IDA: Inferred from direct assay	10744668	GOA
enables calcium-independent phospholipase A2 activity	IMP IMP: Inferred from mutant phenotype	28442572	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in arachidonate metabolic process	IDA IDA: Inferred from direct assay	10833412	GOA
involved in arachidonate secretion	IDA IDA: Inferred from direct assay	10833412	GOA
involved in cardiolipin metabolic process	IDA IDA: Inferred from direct assay	28442572	GOA
involved in fatty acid metabolic process	IDA IDA: Inferred from direct assay	10744668	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	15695510	GOA
involved in linoleic acid metabolic process	IDA IDA: Inferred from direct assay	15695510	GOA
involved in lipid homeostasis	IMP IMP: Inferred from mutant phenotype	17213206	GOA
involved in phosphatidylcholine catabolic process	IDA IDA: Inferred from direct assay	15695510	GOA
involved in phosphatidylethanolamine catabolic process	IDA IDA: Inferred from direct assay	15695510	GOA
involved in prostaglandin biosynthetic process	IDA IDA: Inferred from direct assay	15695510	GOA
involved in triglyceride homeostasis	IMP IMP: Inferred from mutant phenotype	17213206	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in membrane	IDA IDA: Inferred from direct assay	10833412	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	10744668	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	15695510	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

PNPLA8 Protein Structure

Patatin

0
200
400
600
782 a.a.

Protein Preferred Names	Protein Names
calcium-independent phospholipase A2-gamma	intracellular membrane-associated calcium-independent phospholipase A2 gamma

Related Diseases

Diseases	Alias
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

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10799	PNPLA8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	PNPLA8	NCBI