| Gene Information | |
|---|---|
| Gene Name | PNPLA2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 504 |
| Protein Names | Patatin-like phospholipase domain-containing protein 2 (EC 3.1.1.3) (Adipose triglyceride lipase) (Calcium-independent phospholipase A2-zeta) (iPLA2-zeta) (EC 3.1.1.4) (Desnutrin) (Pigment epithelium-derived factor receptor) (PEDF-R) (TTS2.2) (Transport-secretion protein 2) (TTS2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000177666 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q96AD5 |
| Gene Card | PNPLA2 |
| Uniprot ID | Q96AD5 |
| Pfam | PF01734 |
| In ASD | no |
| Allosteric Prediction | yes (0.265884826) |
| Ortholog in Animals | Alpaca_ PNPLA2 ( ortholog_one2one ) Dog_ PNPLA2 ( ortholog_one2one ) GuineaPig_ PNPLA2 ( ortholog_one2one ) Macaque_ PNPLA2 ( ortholog_one2one ) Mouse_ Pnpla2 ( ortholog_one2one ) Pig_ PNPLA2 ( ortholog_one2one ) Rat_ Pnpla2 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | PNPLA4, PNPLA3, PNPLA1, PNPLA5 |
| Tissue | NA |
| Tissue Specificity | Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level). {ECO:0000269|PubMed:15550674, ECO:0000269|PubMed:16150821, ECO:0000269|PubMed:16249444, ECO:0000269|PubMed:17032652}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.003490(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs121918259 rs140612115 rs140201358 rs1138693 |
| Subcellular location [CC] | Lipid droplet {ECO:0000269|PubMed:16239926, ECO:0000269|PubMed:34903883}. Cell membrane {ECO:0000269|PubMed:17032652}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q8BJ56}. |
| Mouse PG classification | NA |
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