U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 10555, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    AGPAT2provided by HGNC
    Official Full Name
    1-acylglycerol-3-phosphate O-acyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:325
    See related
    Ensembl:ENSG00000169692 MIM:603100; AllianceGenome:HGNC:325
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta
    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]
    Expression
    Biased expression in fat (RPKM 221.4), small intestine (RPKM 55.9) and 8 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See AGPAT2 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136673143..136687457, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148906123..148920642, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139567595..139581909, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724193 Neighboring gene lncRNA EGFL7 opposite strand Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139549554-139550178 Neighboring gene EGF like domain multiple 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139563885-139564386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139564387-139564886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139569227-139569726 Neighboring gene microRNA 126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139573281-139573980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139573981-139574680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139576202-139577064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139580514-139581375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139591540-139592050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139592051-139592559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139607687-139608611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29321 Neighboring gene cuticle collagen 2-like Neighboring gene divergent protein kinase domain 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29322 Neighboring gene Sharpr-MPRA regulatory region 5701 Neighboring gene small nucleolar RNA, H/ACA box 17B Neighboring gene small nucleolar RNA host gene 7

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. MicroRNA-24 inhibits osteosarcoma cell proliferation both in vitro and in vivo by targeting LPAATβ. Song L, et al. Arch Biochem Biophys, 2013 Jul 15. PMID 23578572
    2. Acquired and inherited lipodystrophies. Garg A. N Engl J Med, 2004 Mar 18. PMID 15028826
    3. Silencing LPAATβ inhibits tumor growth of cisplatin-resistant human osteosarcoma in vivo and in vitro. Song L, et al. Int J Oncol, 2017 Feb. PMID 28035350
    4. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. Garg A, et al. J Clin Endocrinol Metab, 1999 Sep. PMID 10487716
    5. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease. Ceccarini G, et al. Front Endocrinol (Lausanne), 2020. PMID 32117065, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circ-CHI3L1.2 modulates cisplatin resistance of osteosarcoma cells via the miR-340-5p/LPAATbeta axis.
      Title: Circular RNA circ-CHI3L1.2 modulates cisplatin resistance of osteosarcoma cells via the miR-340-5p/LPAATβ axis.
    2. AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
      Title: AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
    3. A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
      Title: A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.
    4. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
      Title: Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.
    5. Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
      Title: Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.
    6. The findings demonstrate that AGPAT2, which is mutated in patients with congenital generalized lipodystrophy and over-expressed in different types of cancer, is a direct transcriptional target of HIF-1, suggesting that upregulation of lipid storage by HIF-1 plays an important role in adaptation and survival of cancer cells under low oxygen conditions.
      Title: Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.
    7. Results show that LPAATbeta had high expression in osteosarcoma patients who received cisplatin treatment and cisplatin-resistant cancer cell lines. In vitro and in vivo studies provide evidence that LPAATB plays an important role in osteosarcoma.
      Title: Silencing LPAATβ inhibits tumor growth of cisplatin-resistant human osteosarcoma in vivo and in vitro.
    8. Data show that missense mutation c.299G>A changes serine in the acyltransferase NHX4D motif of AGPAT2, and intronic c.493-1G>C mutation destroy a splicing site that leads to exon 4 skipping and deletion of whole AGPAT2 substrate binding domain.
      Title: Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.
    9. the ability of LPAAT-beta to regulate mTOR function
      Title: Lysophosphatidic acid acyltransferase beta regulates mTOR signaling.
    10. miR-24 may play an important role in inhibiting osteosarcoma growth through suppression of LPAATbeta.
      Title: MicroRNA-24 inhibits osteosarcoma cell proliferation both in vitro and in vivo by targeting LPAATβ.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in CDP-diacylglycerol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epidermis development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in phosphatidic acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phospholipid metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytokine-mediated signaling pathway IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in triglyceride biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    1-acyl-sn-glycerol-3-phosphate acyltransferase beta
    Names
    1-AGP acyltransferase 2
    1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
    lysophosphatidic acid acyltransferase-beta
    lysophospholipid acyltransferase 2
    testicular tissue protein Li 143
    NP_001012745.1
    NP_006403.2
    XP_047278592.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008090.1 RefSeqGene

      Range
      5003..19317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001012727.2 → NP_001012745.1  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b

      See identical proteins and their annotated locations for NP_001012745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b).
      Source sequence(s)
      AL590226, BC000026, BC004529, BF347518, CN407343
      Consensus CDS
      CCDS35181.1
      UniProtKB/TrEMBL
      A0A024R8F9, Q8WUW2
      Related
      ENSP00000360759.3, ENST00000371694.7
      Conserved Domains (2) summary
      cd07989
      Location:67 → 217
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like
      COG0204
      Location:26 → 221
      PlsC; 1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid transport and metabolism]

    2. NM_006412.4 → NP_006403.2  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a

      See identical proteins and their annotated locations for NP_006403.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF000237, AL590226, BC000026, BF347518
      Consensus CDS
      CCDS7003.1
      UniProtKB/Swiss-Prot
      O00516, O15106, O15120, Q5VUD3, Q5VUD4, Q9BSV7, Q9BWR7
      UniProtKB/TrEMBL
      Q8WUW2
      Related
      ENSP00000360761.2, ENST00000371696.7
      Conserved Domains (1) summary
      cd07989
      Location:67 → 249
      LPLAT_AGPAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136673143..136687457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422636.1 → XP_047278592.1  1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148906123..148920642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15120.1 GenPept UniProtKB/Swiss-Prot:O15120

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous