AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
Identifiers
Symbols	AGPAT2; 1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta
External IDs	OMIM: 603100 MGI: 1914762 HomoloGene: 4678 GeneCards: AGPAT2 Gene
EC number	2.3.1.51
Gene Ontology Molecular function • 1-acylglycerol-3-phosphate O-acyltransferase activity • 1-acylglycerol-3-phosphate O-acyltransferase activity • 1-acylglycerol-3-phosphate O-acyltransferase activity • acyltransferase activity • transferase activity Cellular component • endoplasmic reticulum • endoplasmic reticulum membrane • membrane • integral to membrane Biological process • positive regulation of cytokine production • positive regulation of cytokine-mediated signaling pathway • phospholipid metabolic process • phosphatidic acid biosynthetic process • metabolic process • phospholipid biosynthetic process • triglyceride biosynthetic process • cellular lipid metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	10555	67512
Ensembl	ENSG00000169692	ENSMUSG00000026922
UniProt	O15120	Q9CWA8
RefSeq (mRNA)	NM_001012727.1	NM_026212.1
RefSeq (protein)	NP_001012745.1	NP_080488.1
Location (UCSC)	Chr 9: 139.57 – 139.58 Mb	Chr 2: 26.45 – 26.46 Mb
PubMed search	[1]	[2]

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

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.

Further reading

• Garg A (2004). "Acquired and inherited lipodystrophies". N. Engl. J. Med. 350 (12): 1220–34. doi:10.1056/NEJMra025261. PMID 15028826. 
• Stamps AC, Elmore MA, Hill ME et al (1997). "A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases". Biochem. J. 326 (2): 455–61. PMC 1218691. PMID 9291118. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1218691. 
• Aguado B, Campbell RD (1998). "Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex". J. Biol. Chem. 273 (7): 4096–105. doi:10.1074/jbc.273.7.4096. PMID 9461603. 
• Garg A, Wilson R, Barnes R et al (1999). "A gene for congenital generalized lipodystrophy maps to human chromosome 9q34". J. Clin. Endocrinol. Metab. 84 (9): 3390–4. doi:10.1210/jc.84.9.3390. PMID 10487716. 
• Agarwal AK, Arioglu E, De Almeida S et al (2002). "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nat. Genet. 31 (1): 21–3. doi:10.1038/ng880. PMID 11967537. 
• Strausberg RL, Feingold EA, Grouse LH et al (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Simha V, Garg A (2003). "Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes". J. Clin. Endocrinol. Metab. 88 (11): 5433–7. doi:10.1210/jc.2003-030835. PMID 14602785. 
• Brandenberger R, Wei H, Zhang S et al (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. 
• Fu M, Kazlauskaite R, Baracho Mde F et al (2004). "Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects". J. Clin. Endocrinol. Metab. 89 (6): 2916–22. doi:10.1210/jc.2003-030485. PMID 15181077. 
• Gerhard DS, Wagner L, Feingold EA et al (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Haque W, Garg A, Agarwal AK (2005). "Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy". Biochem. Biophys. Res. Commun. 327 (2): 446–53. doi:10.1016/j.bbrc.2004.12.024. PMID 15629135. 
• Niesporek S, Denkert C, Weichert W et al (2005). "Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis". Br. J. Cancer 92 (9): 1729–36. doi:10.1038/sj.bjc.6602528. PMC 2362024. PMID 15841084. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2362024. 
• Gomes KB, Pardini VC, Ferreira AC, Fernandes AP (2006). "Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients". J. Inherit. Metab. Dis. 28 (6): 1123–31. doi:10.1007/s10545-005-0038-5. PMID 16435205. 
• Lloyd EE, Gaubatz JW, Burns AR, Pownall HJ (2007). "Sustained elevations in NEFA induce cyclooxygenase-2 activity and potentiate THP-1 macrophage foam cell formation". Atherosclerosis 192 (1): 49–55. doi:10.1016/j.atherosclerosis.2006.06.014. PMID 16870193.