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

Summary

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Official Symbol: PNPLA2provided by HGNC
Official Full Name: patatin-like phospholipase domain containing 2provided by HGNC
Primary source: HGNC:30802
Locus tag: FP17548
See related: Ensembl:ENSG00000177666; HPRD:11443; MIM:609059; Vega:OTTHUMG00000133309
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]

Genomic context

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Location :: 11p15.5

Sequence :: Chromosome: 11; NC_000011.9 (818901..825573)

See PNPLA2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Title: Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
PNPLA2 gene mutations are responsible for neutral lipid storage disease with myopathy in Chinese Han patients.
Title: Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
UBXD8-mediated recruitment of p97/VCP to LDs increases lipid droplet (LD) size by inhibiting the activity of adipose triglyceride lipase (ATGL), the rate-limiting enzyme in triacylglycerol hydrolysis.
Title: Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover.
These data suggest that elevated levels of ATGL are involved in the exercise-induced enhancement of lipolysis in primary adipocytes.
Title: Higher levels of ATGL are associated with exercise-induced enhancement of lipolysis in rat epididymal adipocytes.
The results demonstrated that adipose triglyceride lipase Ser(404) phosphorylation is not increased in mixed skeletal muscle during moderate-intensity exercise and that AMPK does not appear to be an activating kinase for ATGL Ser(404) in skeletal muscle.
Title: Phosphorylation of adipose triglyceride lipase Ser(404) is not related to 5'-AMPK activation during moderate-intensity exercise in humans.
Reduced mRNA and protein content of Plin and G0S2 and borderline increased ATGL protein in sc adipose tissue from poorly controlled type 2 diabetic subjects.
Title: Reduced mRNA and protein expression of perilipin A and G0/G1 switch gene 2 (G0S2) in human adipose tissue in poorly controlled type 2 diabetes.
Resveratrol increased adipose triglyceride lipase gene and protein expressions, an effect that was not observed for hormone-sensitive lipase in human SGBS adipocytes.
Title: Resveratrol regulates lipolysis via adipose triglyceride lipase.
We have mapped the epitope of the antibody that detects PEDF-R to the coding region of exon 4.
Title: Identification of pigment epithelium-derived factor receptor (PEDF-R) antibody epitopes.
Four novel and two previously reported mutations were detected, affecting different parts of the PNPLA2 gene in 6 patients with neutral lipid storage disease
Title: The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity
Title: Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5).

Submit: New GeneRIF Correction See all (50)

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

Neutral lipid storage disease with myopathy

MIM: 610717

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_065109.1			BIND	PubMed	ATGL interacts with NDB-HEHP.
Patatin like phospholipase domain containing 2	P27448	MARK3	HPRD	PubMed
Patatin like phospholipase domain containing 2	Q92561	PHYHIP	HPRD	PubMed
Patatin like phospholipase domain containing 2	O15198	SMAD9	HPRD	PubMed
BioGRID:121370	BioGRID:110310	MARK3	BioGRID	PubMed	Two-hybrid
BioGRID:121370	BioGRID:115139	PHYHIP	BioGRID	PubMed	Two-hybrid
BioGRID:121370	BioGRID:110268	SMAD9	BioGRID	PubMed	Two-hybrid
BioGRID:121370	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121370	BioGRID:120266	UBE2R2	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Acyl chain remodeling of DAG and TAG, organism-specific biosystem (from REACTOME)
Acyl chain remodeling of DAG and TAG, organism-specific biosystemAcyl chain remodeling of triacylglycerol (TAG) and diacylglycerol (DAG) progresses through their hydrolysis by patatin-like phospholipase domain-containing proteins 2/3 (PNPLA2/3). DAG is reacylated...
Acylglycerol degradation, organism-specific biosystem (from KEGG)
Acylglycerol degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
Acylglycerol degradation, conserved biosystem (from KEGG)
Acylglycerol degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
Glycerolipid metabolism, organism-specific biosystem (from KEGG)
Glycerolipid metabolism, organism-specific biosystem
Glycerolipid metabolism
Glycerolipid metabolism, conserved biosystem (from KEGG)
Glycerolipid metabolism, conserved biosystem
Glycerolipid metabolism
Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Phospholipid metabolism, organism-specific biosystem (from REACTOME)
Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
Triacylglyceride Synthesis, organism-specific biosystem (from WikiPathways)
Triacylglyceride Synthesis, organism-specific biosystem
Triacylglyceride Synthesis
triacylglycerol degradation, organism-specific biosystem (from BIOCYC)
triacylglycerol degradation, organism-specific biosystem
triacylglycerol degradation

General gene information

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Markers

G32609 (e-PCR)
- UniSTS:117192

A009K14 (e-PCR)
- UniSTS:59101

Genotypes

See PNPLA2 SNP Geneview Report
See PNPLA2 SNP Genotype Report
See PNPLA2 SNP Variation Viewer Report

Homology

Homologs of the PNPLA2 gene: The PNPLA2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and C.elegans.
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
retinyl-palmitate esterase activity	IEA Inferred from Electronic Annotation more info
triglyceride lipase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acylglycerol acyl-chain remodeling	TAS Traceable Author Statement more info
glycerophospholipid biosynthetic process	TAS Traceable Author Statement more info
negative regulation of sequestering of triglyceride	IDA Inferred from Direct Assay more info	PubMed
phospholipid metabolic process	TAS Traceable Author Statement more info
positive regulation of triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
triglyceride catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytosol	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to membrane	IEA Inferred from Electronic Annotation more info
lipid particle	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

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

NP_065109.1

EC 3.1.1.3

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.

Genomic

NG_023394.1 RefSeqGene

Range

5001..11673

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020376.3 → NP_065109.1 patatin-like phospholipase domain-containing protein 2

Status: REVIEWED

Source sequence(s)

AP006621, BC011958, BC017280

Consensus CDS

CCDS7718.1

UniProtKB/Swiss-Prot

Q96AD5

Related

ENSP00000337701, OTTHUMP00000164432, ENST00000336615, OTTHUMT00000257106

Conserved Domains (1) summary

cd07220
Location:4 – 252
Blast Score: 1222

Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p10 Primary Assembly

Range

818901..825573

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1

Range

634726..640840

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GenBank, FASTA, Sequence Viewer (Graphics)
NW_001842195.1

Range

448..4018

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_003403858.1 → XP_003403906.1

Conserved Domains (1) summary

cl11396
Location:17 – 207
Blast Score: 1007

Patatin_and_cPLA2; Patatins and Phospholipases

Alternate CHM1_1.0

Genomic

NC_018922.1 Alternate CHM1_1.0

Range

755496..762165

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01015211.1	None
genomic	ABBA01015212.1	None
genomic	ABBA01204211.1 (448..4018)	None
genomic	AMYH01003295.1 (55618..62287)	None
genomic	AP006621.1 (113796..120111)	None
genomic	CH471158.1	EAX02395.1
		EAX02396.1
mRNA	AF055000.1	AAC09354.1
mRNA	AJ278475.1	CAC01131.1
mRNA	AJ278476.1	CAC01132.1
mRNA	AK308435.1	None
mRNA	AL833707.1	None
mRNA	AY203925.1	AAP34448.1
mRNA	AY894804.1	AAW81962.1
mRNA	BC011958.1	AAH11958.1
mRNA	BC017280.2	AAH17280.1
mRNA	HQ651812.1	ADU85972.1
mRNA	JF279442.1	AEZ01596.1