AGPAT2
Summary: This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
1-acylglycerol-3-phosphate O-acyltransferase 2 | MIM:603100 | Ensembl:ENSG00000169692 | HGNC:HGNC:325 | PA24622 | 9q34.3 |
GO terms in AGPAT2
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IMP | GO:0001819 | positive regulation of cytokine production |
BP | IC | GO:0001961 | positive regulation of cytokine-mediated signaling pathway |
BP | NAS | GO:0006644 | phospholipid metabolic process |
BP | IBA | GO:0006654 | phosphatidic acid biosynthetic process |
BP | IGI | GO:0006654 | phosphatidic acid biosynthetic process |
BP | TAS | GO:0006654 | phosphatidic acid biosynthetic process |
BP | IEA | GO:0008544 | epidermis development |
BP | IEA | GO:0016024 | CDP-diacylglycerol biosynthetic process |
BP | IEA | GO:0042493 | response to drug |
BP | TAS | GO:0043312 | neutrophil degranulation |
CC | IBA | GO:0005783 | endoplasmic reticulum |
CC | ISS | GO:0005783 | endoplasmic reticulum |
CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
CC | TAS | GO:0005886 | plasma membrane |
CC | IEA | GO:0016021 | integral component of membrane |
CC | TAS | GO:0035579 | specific granule membrane |
MF | IBA | GO:0003841 | 1-acylglycerol-3-phosphate O-acyltransferase activity |
MF | IDA | GO:0003841 | 1-acylglycerol-3-phosphate O-acyltransferase activity |
MF | NAS | GO:0003841 | 1-acylglycerol-3-phosphate O-acyltransferase activity |
MF | TAS | GO:0003841 | 1-acylglycerol-3-phosphate O-acyltransferase activity |
Gene expression in normal tissue: AGPAT2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AGPAT2
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1483166 | Synthesis of PA |
reactome | R-HSA-1483206 | Glycerophospholipid biosynthesis |
reactome | R-HSA-1483257 | Phospholipid metabolism |
reactome | R-HSA-168249 | Innate Immune System |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-556833 | Metabolism of lipids |
reactome | R-HSA-6798695 | Neutrophil degranulation |
wikipathways | WP236 | Adipogenesis |
wikipathways | WP325 | Triacylglyceride Synthesis |
kegg | hsa00561 | Glycerolipid metabolism - Homo sapiens (human) |
kegg | hsa00564 | Glycerophospholipid metabolism - Homo sapiens (human) |
kegg | hsa04072 | Phospholipase D signaling pathway - Homo sapiens (human) |
kegg | hsa04975 | Fat digestion and absorption - Homo sapiens (human) |
humancyc | PWY-5667 | CDP-diacylglycerol biosynthesis |
humancyc | TRIGLSYN-PWY | triacylglycerol biosynthesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AGPAT2