PNPLA2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PNPLA2 |
| Official Name | patatin like phospholipase domain containing 2 [Source:HGNC Symbol;Acc:HGNC:30802] |
| Ensembl ID | ENSG00000177666 |
| Bio databases IDs | |
| Aliases | patatin like phospholipase domain containing 2 |
| Synonyms | 0610039C21Rik, 1110001C14Rik, Adipose triglyceride lipase, ATGL, DESNUTRIN, FP17548, Gs2, iPLA2zeta, LOC100507839, LOC100911615, patatin-like phospholipase domain containing 2, PEDF-R, RGD1309044, TRIACYLGLYCEROL HYDROLASE, TTS2, TTS-2.2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PNPLA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- acylglycerol O-acyltransferase
- Patatins and Phospholipases
- enzyme
- protein binding
- retinyl-palmitate esterase
- lipoprotein lipase
- transmembrane receptor
- phospholipase A2
- hydrophobic domain
- triacylglycerol lipase
Pathways
Biological processes and signaling networks where the PNPLA2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- liver cancer
- hereditary disorder
- Fuchs endothelial dystrophy
- Neutral lipid storage disease with myopathy
- cardiac hypertrophy
- fibrosis
- medulloblastoma SHH subtype
- brain cancer
role in cell
- production in
- expression in
- apoptosis
- phosphorylation in
- cell death
- uptake in
- quantity
- activation in
- growth
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- lipid droplets
- cytosol
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNPLA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acylglycerol acyl-chain remodeling
- negative regulation of sequestering of triglyceride
- lipid storage
- lipid homeostasis
- diacylglycerol biosynthetic process
- retinol metabolic process
- positive regulation of triglyceride catabolic process
- triglyceride catabolic process
- cellular triglyceride homeostasis
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- cytoplasm
- membrane
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phospholipase A2 activity
- protein binding
- mono-olein transacylation activity
- diolein transacylation activity
- retinyl-palmitate esterase activity
- triglyceride lipase activity
- lipoprotein lipase activity
- acylglycerol O-acyltransferase activity