PNPLA4 - patatin like phospholipase domain containing 4 Gene

Homo sapiens

Also known as GS2; DXS1283E; iPLA2eta

Gene ID: 8228 | Gene type: protein coding

About PNPLA4

Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:7,898,247-7,927,724 (from NCBI)

This gene has 4 transcripts (splice variants), 122 orthologues and 4 paralogues. Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.6) and 25 other tissues.

Summary

This gene encodes a member of the patatin-like family of phospholipases. The encoded Enzyme has both triacylglycerol Lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]

PNPLA4 Products(3)

mRNA	Protein	Name
NM_001142389.2	NP_001135861.1	patatin-like phospholipase domain-containing protein 4 isoform 1 precursor
NM_001172672.2	NP_001166143.1	patatin-like phospholipase domain-containing protein 4 isoform 2
NM_004650.3	NP_004641.1	patatin-like phospholipase domain-containing protein 4 isoform 1 precursor

PNPLA4 Protein Structure

Patatin

0
100
200
253 a.a.

Protein Preferred Names

Protein Names

patatin-like phospholipase domain-containing protein 4

IPLA2 eta

Related Diseases

Diseases

Alias

Cardiomyopathy, Dilated, 1m

Dilated Cardiomyopathy 1m	CMD1M
Cardiomyopathy, Dilated 1m	Cardiomyopathy, Dilated, Type 1m

Cardiomyopathy, Familial Hypertrophic, 7

Hypertrophic Cardiomyopathy 7	CMH7
Cardiomyopathy, Familial Hypertrophic 7	Cardiomyopathy, Hypertrophic, 7
Cardiomyopathy, Hypertrophic, Familial, Type 7

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Cardiomyopathy, Dilated, 1p

Dilated Cardiomyopathy 1p	CMD1P
Cardiomyopathy, Dilated 1p	Cardiomyopathy, Dilated, Type 1p

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

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-RS10795	PNPLA4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PNPLA4	RGD	RGD:1562200
Macaca mulatta	PNPLA4	VGNC	VGNC:81507
Felis catus	PNPLA4	VGNC	VGNC:64265
Bos taurus	PNPLA4	VGNC	VGNC:33092

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