PNPLA4 - patatin like phospholipase domain containing 4 Gene

Also Known as GS2; DXS1283E; iPLA2eta

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8228

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables acylglycerol O-acyltransferase activity IDA
IDA: Inferred from direct assay
17603008 GOA
enables diolein transacylation activity IDA
IDA: Inferred from direct assay
15364929 GOA
enables mono-olein transacylation activity IDA
IDA: Inferred from direct assay
15364929 GOA
enables phospholipase A2 activity IDA
IDA: Inferred from direct assay
15364929 GOA
enables retinyl-palmitate esterase activity EXP
EXP: Inferred from Experiment
16741517 GOA
enables triacylglycerol lipase activity EXP
EXP: Inferred from Experiment
15364929 GOA
enables triacylglycerol lipase activity IDA
IDA: Inferred from direct assay
15364929 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
26741492 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

PNPLA4 Protein Structure

Patatin

Patatin: Patatin-like phospholipase (6 - 174)

  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10795 PNPLA4 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others PNPLA4 NCBI