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

Gene ID: 57104, updated on 12-Aug-2018

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; 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]
Expression
Biased expression in fat (RPKM 355.9), bone marrow (RPKM 27.0) and 7 other tissues See more
Orthologs

Genomic context

See PNPLA2 in Genome Data Viewer
Location:
11p15.5
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (818890..825573)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (818901..825573)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene proapoptotic nucleolar protein 1 Neighboring gene p53-induced death domain protein 1 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52 Neighboring gene calcium release activated channel regulator 2B Neighboring gene CD151 molecule (Raph blood group) Neighboring gene RNA polymerase II subunit L

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp667M109

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acylglycerol O-acyltransferase activity TAS
Traceable Author Statement
more info
 
lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
triglyceride lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride lipase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
triglyceride lipase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
acylglycerol acyl-chain remodeling TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
lipid droplet organization IEA
Inferred from Electronic Annotation
more info
 
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid storage IEA
Inferred from Electronic Annotation
more info
 
negative regulation of sequestering of triglyceride IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of triglyceride catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
patatin-like phospholipase domain-containing protein 2
Names
IPLA2-zeta
TTS2.2
adipose triglyceride lipase
calcium-independent phospholipase A2
desnutrin
mutant patatin-like phospholipase domain containing 2
pigment epithelium-derived factor
transport-secretion protein 2.2
triglyceride hydrolase
NP_065109.1
XP_006718328.1
XP_006718329.1
XP_016873517.1
XP_024304386.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_023394.1 RefSeqGene

    Range
    5001..11673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_065109.1

    Status: REVIEWED

    Source sequence(s)
    AP006621, BC011958, BC017280
    Consensus CDS
    CCDS7718.1
    UniProtKB/Swiss-Prot
    Q96AD5
    Related
    ENSP00000337701.4, OTTHUMP00000164432, ENST00000336615.8, OTTHUMT00000257106
    Conserved Domains (1) summary
    cd07220
    Location:4252
    Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    818890..825573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448618.1XP_024304386.1  patatin-like phospholipase domain-containing protein 2 isoform X2

    Conserved Domains (2) summary
    cd07220
    Location:4252
    Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2
    cl27456
    Location:335469
    UvrC; Excinuclease UvrABC, nuclease subunit [Replication, recombination and repair]
  2. XM_006718265.3XP_006718328.1  patatin-like phospholipase domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006718328.1

    Conserved Domains (1) summary
    cd07220
    Location:4252
    Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2
  3. XM_006718266.3XP_006718329.1  patatin-like phospholipase domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006718329.1

    Conserved Domains (1) summary
    cd07220
    Location:4252
    Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2
  4. XM_017018028.1XP_016873517.1  patatin-like phospholipase domain-containing protein 2 isoform X3

    UniProtKB/Swiss-Prot
    Q96AD5
    Conserved Domains (1) summary
    cd07220
    Location:4252
    Pat_PNPLA2; Patatin-like phospholipase domain containing protein 2
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