PNPLA5 - patatin like phospholipase domain containing 5 Gene

Homo sapiens

Also known as GS2L; dJ388M5; dJ388M5.4

Gene ID: 150379 | Gene type: protein coding

About PNPLA5

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:43,879,678-43,892,013 (from NCBI)

This gene has 3 transcripts (splice variants), 86 orthologues and 4 paralogues. Low expression observed in reference dataset.

Summary

This gene is a member of the patatin-like Phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

PNPLA5 Products(3)

mRNA	Protein	Name
NM_001177675.2	NP_001171146.1	patatin-like phospholipase domain-containing protein 5 isoform 2
NM_001371410.1	NP_001358339.1	patatin-like phospholipase domain-containing protein 5 isoform 3
NM_138814.4	NP_620169.1	patatin-like phospholipase domain-containing protein 5 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables triacylglycerol lipase activity	EXP EXP: Inferred from Experiment	17603008	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

PNPLA5 Protein Structure

Patatin

0
100
200
300
400
429 a.a.

Protein Preferred Names

Protein Names

patatin-like phospholipase domain-containing protein 5

GS2-like protein

Related Diseases

Diseases

Alias

Sea-Blue Histiocyte Disease

Sea-Blue Histiocytosis	Sea-Blue Histiocyte Syndrome
Histiocytosis, Sea-Blue	Inherited Lipemic Splenomegaly
SBHD

Cholesterol Ester Storage Disease

Apolipoprotein C-Iii Deficiency

Hyperalphalipoproteinemia 2

HALP2

Cat-Scratch Disease

Cat Scratch Disease	Benign Lymphoreticulosis
Cat Scratch Fever	Debre'S Syndrome
Bartonellosis Due To Bartonella Henselae Infection	Debre-Mollaret Syndrome
Foshay-Mollaret Cat Scratch Fever	Oroya Fever
Cat-Scratch Fever	Benign Inoculation Lymphoreticulosis
Catscratch Disease Or Fever	Csd - [Cat Scratch Disease]
Nonbacterial Regional Lymphadenitis	Rochalimaea Henselae Infection

Spastic Paraplegia 39, Autosomal Recessive

SPG39	Ntemnd
Hereditary Spastic Paraplegia 39	Nte-Related Motor Neuron Disorder
Autosomal Recessive Spastic Paraplegia Type 39	Spastic Paraplegia Due To Neuropathy Target Esterase Mutation
Spastic Paraplegia Due To Nte Mutation	Spastic Paraplegia 39
Autosomal Recessive Spastic Paraplegia 39	Nte Related Motor Neuron Disorder
Paraplegia, Spastic, Type 39

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

Lysosomal And Lipase Deficiency

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

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10796	PNPLA5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PNPLA5	MGD	MGI:1923022
Canis familiaris	PNPLA5	VGNC	VGNC:44755
Bos taurus	PNPLA5	VGNC	VGNC:56226
Felis catus	PNPLA5	VGNC	VGNC:64266
Macaca mulatta	PNPLA5	VGNC	VGNC:76105
Rattus norvegicus	PNPLA5	RGD	RGD:1307495

Name
Email *

	Sorry, but the email address you supplied was invalid.