Pnpla2 patatin-like phospholipase domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pnpla2provided by MGI
Official Full Name: patatin-like phospholipase domain containing 2provided by MGI
Primary source: MGI:MGI:1914103
See related: Ensembl:ENSMUSG00000025509 AllianceGenome:MGI:1914103
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Atgl; TTS-2.2; 0610039C21Rik; 1110001C14Rik
Summary: Enables triglyceride lipase activity. Involved in several processes, including acylglycerol metabolic process; negative regulation of sequestering of triglyceride; and positive regulation of triglyceride catabolic process. Acts upstream of or within cellular lipid catabolic process and lipid droplet organization. Located in cytosol and lipid droplet. Orthologous to human PNPLA2 (patatin like phospholipase domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 647.4), subcutaneous fat pad adult (RPKM 559.9) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 86.81 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (141035101..141040656)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (141455188..141460743)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Renal tubule-specific Atgl deletion links kidney lipid metabolism to glucagon-like peptide 1 and insulin secretion independent of renal inflammation or lipotoxicity.
Title: Renal tubule-specific Atgl deletion links kidney lipid metabolism to glucagon-like peptide 1 and insulin secretion independent of renal inflammation or lipotoxicity.
Unmasking crucial residues in adipose triglyceride lipase for coactivation with comparative gene identification-58.
Title: Unmasking crucial residues in adipose triglyceride lipase for coactivation with comparative gene identification-58.
PNPLA2 mobilizes retinyl esters from retinosomes and promotes the generation of 11-cis-retinal in the visual cycle.
Title: PNPLA2 mobilizes retinyl esters from retinosomes and promotes the generation of 11-cis-retinal in the visual cycle.
Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration.
Title: Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration.
Adipose Triglyceride Lipase Deficiency Aggravates Angiotensin II-Induced Atrial Fibrillation by Reducing Peroxisome Proliferator-Activated Receptor alpha Activation in Mice.
Title: Adipose Triglyceride Lipase Deficiency Aggravates Angiotensin II-Induced Atrial Fibrillation by Reducing Peroxisome Proliferator-Activated Receptor α Activation in Mice.
N-end Rule-Mediated Proteasomal Degradation of ATGL Promotes Lipid Storage.
Title: N-end Rule-Mediated Proteasomal Degradation of ATGL Promotes Lipid Storage.
Blocking Lipid Uptake Pathways Does not Prevent Toxicity in Adipose Triglyceride Lipase (ATGL) Deficiency.
Title: Blocking Lipid Uptake Pathways Does not Prevent Toxicity in Adipose Triglyceride Lipase (ATGL) Deficiency.
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.
Enterocyte-specific ATGL overexpression affects intestinal and systemic cholesterol homeostasis.
Title: Enterocyte-specific ATGL overexpression affects intestinal and systemic cholesterol homeostasis.
Adipose Triglyceride Lipase Deficiency Attenuates In Vitro Thrombus Formation without Affecting Platelet Activation and Bleeding In Vivo.
Title: Adipose Triglyceride Lipase Deficiency Attenuates In Vitro Thrombus Formation without Affecting Platelet Activation and Bleeding In Vivo.

Submit: New GeneRIF Correction See all GeneRIFs (128)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acylglycerol O-acyltransferase activity	ISO Inferred from Sequence Orthology more info
enables diolein transacylation activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables mono-olein transacylation activity	ISO Inferred from Sequence Orthology more info
enables phospholipase A2 activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retinyl-palmitate esterase activity	ISO Inferred from Sequence Orthology more info
enables triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triglyceride lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride lipase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables triglyceride lipase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular lipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in diacylglycerol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid droplet disassembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of sequestering of triglyceride	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of sequestering of triglyceride	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of triglyceride catabolic process	ISO Inferred from Sequence Orthology more info
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within triglyceride catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in triglyceride catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
is_active_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: adipose triglyceride lipase; calcium-independent phospholipase A2-zeta; desnutrin; iPLA2-zeta; transport-secretion protein; triglyceride hydrolase

NP_001157161.1

EC 3.1.1.3

EC 3.1.1.4

NP_080078.2

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.

mRNA and Protein(s)

NM_001163689.1 → NP_001157161.1 patatin-like phospholipase domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_001157161.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK031609, AK076464, BB574719

Consensus CDS

CCDS52445.1

UniProtKB/Swiss-Prot

O89080, Q05BJ0, Q3UD97, Q643S0, Q6P234, Q8BJ56, Q9D1Q9, Q9DCF6

Related

ENSMUSP00000127149.2, ENSMUST00000164016.8

Conserved Domains (2) summary

cd07220
Location:4 → 252

Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

COG1752
Location:7 → 306

RssA; Predicted acylesterase/phospholipase RssA, containd patatin domain [General function prediction only]
NM_025802.3 → NP_080078.2 patatin-like phospholipase domain-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_080078.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AK002826, AK076464, BB574719, CF725975

Consensus CDS

CCDS22015.1

UniProtKB/Swiss-Prot

Q8BJ56

Related

ENSMUSP00000065116.7, ENSMUST00000064151.13

Conserved Domains (1) summary

cd07220
Location:4 → 252

Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

RNA

NR_028142.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) has an additional exon in the 5' region, as compared to variant 1. The resulting transcript is nonsense-mediated mRNA decay candidate and is unlikely to make a functional protein.

Source sequence(s)

AC158224