AGPAT2

1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene.^[5][6][7]

AGPAT2
Identifiers
Aliases	AGPAT2, 1-BSCL, BSCL1, LPAAB, LPAAT-beta, 1-acylglycerol-3-phosphate O-acyltransferase 2
External IDs	OMIM: 603100; MGI: 1914762; HomoloGene: 4678; GeneCards: AGPAT2; OMA:AGPAT2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.3 Start 136,673,143 bp[1] End 136,687,457 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 A3 Start 26,483,069 bp[2] End 26,494,429 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 10555 67512 Ensembl ENSG00000169692 ENSMUSG00000026922 UniProt O15120 Q8K3K7 RefSeq (mRNA) NM_006412 NM_001012727 NM_026212 RefSeq (protein) NP_001012745 NP_006403 NP_080488 Location (UCSC) Chr 9: 136.67 – 136.69 Mb Chr 2: 26.48 – 26.49 Mb PubMed search [3] [4]
Wikidata
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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.^[7]