PNPLA2 patatin like phospholipase domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PNPLA2provided by HGNC
Official Full Name: patatin like phospholipase domain containing 2provided by HGNC
Primary source: HGNC:HGNC:30802
See related: Ensembl:ENSG00000177666 MIM:609059; AllianceGenome:HGNC:30802
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATGL; TTS2; PEDF-R; FP17548; TTS-2.2; iPLA2zeta; 1110001C14Rik
Summary: This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
Expression: Biased expression in fat (RPKM 355.9), bone marrow (RPKM 27.0) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (818914..825573)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (870350..877008)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (818914..825573)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort.
Title: Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort.
ATGL promotes colorectal cancer growth by regulating autophagy process and SIRT1 expression.
Title: ATGL promotes colorectal cancer growth by regulating autophagy process and SIRT1 expression.
BETi enhance ATGL expression and its lipase activity to exert their antitumoral effects in triple-negative breast cancer (TNBC) cells.
Title: BETi enhance ATGL expression and its lipase activity to exert their antitumoral effects in triple-negative breast cancer (TNBC) cells.
ATGL is a biosynthetic enzyme for fatty acid esters of hydroxy fatty acids.
Title: ATGL is a biosynthetic enzyme for fatty acid esters of hydroxy fatty acids.
Resting skeletal muscle PNPLA2 (ATGL) and CPT1B are associated with peak fat oxidation rates in men and women but do not explain observed sex differences.
Title: Resting skeletal muscle PNPLA2 (ATGL) and CPT1B are associated with peak fat oxidation rates in men and women but do not explain observed sex differences.
The Role of Adipose Triglyceride Lipase and Cytosolic Lipolysis in Cardiac Function and Heart Failure.
Title: The Role of Adipose Triglyceride Lipase and Cytosolic Lipolysis in Cardiac Function and Heart Failure.
Burkholderia pseudomallei interferes with host lipid metabolism via NR1D2-mediated PNPLA2/ATGL suppression to block autophagy-dependent inhibition of infection.
Title: Burkholderia pseudomallei interferes with host lipid metabolism via NR1D2-mediated PNPLA2/ATGL suppression to block autophagy-dependent inhibition of infection.
Hepatocyte-specific deletion of adipose triglyceride lipase (adipose triglyceride lipase/patatin-like phospholipase domain containing 2) ameliorates dietary induced steatohepatitis in mice.
Title: Hepatocyte-specific deletion of adipose triglyceride lipase (adipose triglyceride lipase/patatin-like phospholipase domain containing 2) ameliorates dietary induced steatohepatitis in mice.
Dietary fat content and adipose triglyceride lipase and hormone-sensitive lipase gene expressions in adults' subcutaneous and visceral fat tissues.
Title: Dietary fat content and adipose triglyceride lipase and hormone-sensitive lipase gene expressions in adults' subcutaneous and visceral fat tissues.
Association of the PNPLA2, SCD1 and Leptin Expression with Fat Distribution in Liver and Adipose Tissue From Obese Subjects.
Title: Association of the PNPLA2, SCD1 and Leptin Expression with Fat Distribution in Liver and Adipose Tissue From Obese Subjects.

Submit: New GeneRIF Correction See all GeneRIFs (112)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neutral lipid storage myopathy MedGen: C1853136 OMIM: 610717 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32609 (e-PCR)
- UniSTS:117192

A009K14 (e-PCR)
- UniSTS:59101

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acylglycerol O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylglycerol O-acyltransferase activity	TAS Traceable Author Statement more info
enables diolein transacylation activity	IDA Inferred from Direct Assay more info	PubMed
enables lipoprotein lipase activity	TAS Traceable Author Statement more info
enables mono-olein transacylation activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase A2 activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinyl-palmitate esterase activity	EXP Inferred from Experiment more info	PubMed
enables triacylglycerol lipase activity	EXP Inferred from Experiment more info	PubMed
enables triacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triacylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables triacylglycerol lipase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables triacylglycerol lipase activity	ISS Inferred from Sequence or Structural Similarity more info
enables triacylglycerol lipase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in acylglycerol acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in diacylglycerol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular triglyceride homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid droplet disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect lipid droplet fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of sequestering of triglyceride	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: patatin-like phospholipase domain-containing protein 2

Names: IPLA2-zeta; TTS2.2; adipose triglyceride lipase; calcium-independent phospholipase A2; calcium-independent phospholipase A2-zeta; desnutrin; mutant patatin-like phospholipase domain containing 2; pigment epithelium-derived factor; pigment epithelium-derived factor receptor; transport-secretion protein 2.2; triglyceride hydrolase

NP_065109.1

EC 3.1.1.3

EC 3.1.1.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.