AGPAT2

AGPAT2
Identifiers
Aliases	AGPAT2, 1-BSCL, BSCL1, LPAAB, LPAAT-beta, 1-acylglycerol-3-phosphate O-acyltransferase 2
External IDs	OMIM: 603100; MGI: 1914762; GeneCards: AGPAT2
Enzyme activity
Gene location (Human)
Chr.	Chromosome 9 (human)
End	136,687,457 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	26,494,429 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; mucosa of ileum; ; right lobe of liver; ; subcutaneous adipose tissue; ; body of pancreas; ; apex of heart; ; right auricle of heart; ; duodenum; ; right lung; ; upper lobe of left lung;
	Top expressed in
	brown adipose tissue; ; subcutaneous adipose tissue; ; white adipose tissue; ; intercostal muscle; ; left lobe of liver; ; interventricular septum; ; granulocyte; ; jejunum; ; mammary gland; ; duodenum;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	acyltransferase activity; transferase activity; 1-acylglycerol-3-phosphate O-acyltransferase activity;
Cellular component	endoplasmic reticulum membrane; membrane; integral component of membrane; endoplasmic reticulum; plasma membrane; specific granule membrane;
Biological process	phospholipid biosynthetic process; positive regulation of cytokine production; metabolism; CDP-diacylglycerol biosynthetic process; lipid metabolism; epidermis development; positive regulation of cytokine-mediated signaling pathway; phosphatidic acid biosynthetic process; phospholipid metabolic process; neutrophil degranulation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10555
	67512
	ENSG00000169692
	ENSMUSG00000026922
	O15120
	Q8K3K7
	NM_006412; NM_001012727
	NM_026212
	NP_001012745; NP_006403
	NP_080488
	Wikidata
View/Edit Human	View/Edit Mouse

1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene.

Function

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, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.