AGPAT2 Gene: 1-Acylglycerol-3-Phosphate O-Acyltransferase 2
Key enzyme in glycerophospholipid and triacylglycerol biosynthesis; mutations cause congenital generalized lipodystrophy type 1.
Gene Information Card
| Symbol | AGPAT2 |
|---|---|
| Full Name | 1-acylglycerol-3-phosphate O-acyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 10555 ncbi.nlm.nih.gov/gene/10555 |
| Ensembl ID | ENSG00000169692 |
| UniProt ID | O15120 |
| OMIM ID | 603100 |
| HGNC ID | 326 |
| Aliases | 1-AGP acyltransferase 2, 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta), LPAAT-beta, Lysophosphatidic acid acyltransferase beta |
Description
The AGPAT2 gene encodes 1-acylglycerol-3-phosphate O-acyltransferase 2, an enzyme that catalyzes the conversion of lysophosphatidic acid (1-acyl-sn-glycerol-3-phosphate) to phosphatidic acid by adding a fatty acyl group at the sn-2 position. This reaction is a critical step in the biosynthesis of glycerophospholipids and triacylglycerols. AGPAT2 is predominantly expressed in adipose tissue and plays a key role in adipocyte differentiation and lipid storage. Mutations in AGPAT2 cause congenital generalized lipodystrophy type 1 (CGL1), a rare autosomal recessive disorder characterized by severe loss of adipose tissue, insulin resistance, and metabolic complications.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital generalized lipodystrophy type 1 (CGL1) | Loss-of-function mutations in AGPAT2 impair phosphatidic acid synthesis, leading to defective adipocyte differentiation and severe fat loss. | OMIM #608594; ClinVar; multiple publications (e.g., Agarwal et al., 2002) |
| Lipodystrophy, familial partial, associated with metabolic syndrome | Some variants may contribute to partial lipodystrophy phenotypes, though evidence is limited. | ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High expression in subcutaneous and visceral fat |
| Liver | Moderate | Moderate expression |
| Skeletal muscle | Low | Low expression |
| Heart | Low | Low expression |
| Pancreas | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes (differentiated) | High | Key role in adipogenesis |
| HepG2 (liver) | Moderate | Hepatocellular carcinoma cell line |
| Skeletal muscle cells | Low | Low expression |
| HeLa (cervical) | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.299C>T (p.Ser100Leu) | Missense | Rare | Loss of function; associated with CGL1 |
| c.646A>T (p.Lys216*) | Nonsense | Rare | Truncating; loss of function; CGL1 |
| c.493-2A>G | Splice site | Rare | Splicing defect; loss of function; CGL1 |
| c.589G>A (p.Gly197Arg) | Missense | Rare | Loss of function; CGL1 |
Mutation functional classification
Loss of Function (LOF)
Most AGPAT2 mutations are loss-of-function, leading to reduced or absent enzyme activity, causing CGL1.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects reported; CGL1 is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity | • acyltransferase activity |
| • phospholipid biosynthetic process | • triacylglycerol biosynthetic process |
| • lipid metabolic process | • adipocyte differentiation |
| • endoplasmic reticulum membrane | • integral component of membrane |
Pathways
• Glycerophospholipid biosynthesis
• Triacylglycerol biosynthesis
• Adipogenesis
Protein Summary
The AGPAT2 protein is a 278-amino acid enzyme localized to the endoplasmic reticulum membrane. It catalyzes the acylation of lysophosphatidic acid to phosphatidic acid, a precursor for both glycerophospholipids and triacylglycerols. The protein contains conserved acyltransferase domains and is essential for normal adipose tissue development. Mutations that disrupt its catalytic activity lead to congenital generalized lipodystrophy type 1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT2 Knockout HEK293 Cell Line | EDJ-KQ1706 | Human | 10555 | Details Get a Quote |
| AGPAT2 Knockout A-549 Cell Line | EDJ-KQ21532 | Human | 10555 | Details Get a Quote |
| AGPAT2 Knockout HCT 116 Cell Line | EDJ-KQ21533 | Human | 10555 | Details Get a Quote |
| AGPAT2 Knockout HeLa Cell Line | EDJ-KQ21534 | Human | 10555 | Details Get a Quote |
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