Version 5.4
Homo sapiens Gene: PNPLA2
Summary
InnateDB Gene IDBG-18288.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PNPLA2
Gene Name patatin-like phospholipase domain containing 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000177666
Encoded Proteins
IDBP-18290
patatin-like phospholipase domain containing 2
IDBP-811945
patatin-like phospholipase domain containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:818902-825573
Strand Forward strand
Band p15.5
Transcripts
ENST00000336615 ENSP00000337701
ENST00000525250
ENST00000534561
ENST00000531923
ENST00000529255
ENST00000526083
ENST00000617551 ENSP00000481602
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 21 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004806 triglyceride lipase activity
GO:0005515 protein binding
Biological Process
GO:0006629 lipid metabolic process
GO:0006644 phospholipid metabolic process
GO:0008152 metabolic process
GO:0010891 negative regulation of sequestering of triglyceride
GO:0010898 positive regulation of triglyceride catabolic process
GO:0019433 triglyceride catabolic process
GO:0019915 lipid storage
GO:0034389 lipid particle organization
GO:0036155 acylglycerol acyl-chain remodeling
GO:0044281 small molecule metabolic process
GO:0046474 glycerophospholipid biosynthetic process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025509
View Gene Order
ENSBTAG00000005144
Not yet available
Pathways
NETPATH
REACTOME
REACT_121122
Acyl chain remodeling of DAG and TAG pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_121401
Glycerophospholipid biosynthesis pathway
REACT_120870
Phospholipid metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa00561
Glycerolipid metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654697
RefSeq NM_020376 XM_003403858
HUGO
OMIM
CCDS CCDS7718
HPRD 11443
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca