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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGPAT2 Gene

protein-coding   GIFtS: 66
GCID: GC09M139567

1-Acylglycerol-3-Phosphate O-Acyltransferase 2

(Previous names: Berardinelli-Seip congenital lipodystrophy, 1-acylglycerol-3-phosphate...)
(Previous symbol: BSCL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
1-Acylglycerol-3-Phosphate O-Acyltransferase 21 2 3     LPAAB2 5
LPAAT-beta1 2 3     Berardinelli-Seip Congenital Lipodystrophy1
BSCL1 2 5     beta1
1-Acylglycerol-3-Phosphate O-Acyltransferase 2 (Lysophosphatidic Acid
Acyltransferase, Beta)1 2
     Lysophosphatidic Acid Acyltransferase1
Lysophosphatidic Acid Acyltransferase Beta2 3     1-AGPAT22
1-AGP Acyltransferase 22 3     1-Acyl-Sn-Glycerol-3-Phosphate Acyltransferase Beta2
1-AGPAT 22 3     Lysophosphatidic Acid Acyltransferase-Beta2
BSCL12 5     EC 2.3.1.513

External Ids:    HGNC: 3251   Entrez Gene: 105552   Ensembl: ENSG000001696927   OMIM: 6031005   UniProtKB: O151203   

Export aliases for AGPAT2 gene to outside databases

Previous GC identifers: GC09M130790 GC09M131257 GC09M133008 GC09M134924 GC09M136843 GC09M138687 GC09M109027


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for AGPAT2 Gene: 
AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) is a protein-coding gene. Diseases associated with AGPAT2 include congenital generalized lipodystrophy, and congenital generalized lipodystrophy type 1, and among its related super-pathways are CDP-diacylglycerol biosynthesis I and Glycerophospholipid biosynthesis. GO annotations related to this gene include 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is AGPAT1.

UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
Function: Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2
position of the glycerol backbone

Gene Wiki entry for AGPAT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_024000.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGPAT2 gene promoter:
         C/EBPbeta   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGPAT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AGPAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGPAT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

AGPAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGPAT2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M139567:  view genomic region     (about GC identifiers)

Start:
139,567,595 bp from pter      End:
139,581,911 bp from pter
Size:
14,317 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120 (See protein sequence)
Recommended Name: 1-acyl-sn-glycerol-3-phosphate acyltransferase beta  
Size: 278 amino acids; 30914 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: O00516 O15106 Q5VUD3 Q5VUD4 Q9BSV7 Q9BWR7
Alternative splicing: 2 isoforms:  O15120-1   O15120-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGPAT2: NX_O15120

Explore proteomics data for AGPAT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15120

  • AGPAT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGPAT2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001012745.1  NP_006403.2  

    ENSEMBL proteins: 
     ENSP00000360759   ENSP00000360761   ENSP00000438919  
    Reactome Protein details: O15120
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    Cloud-Clone Corp. Proteins for AGPAT2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    AGPAT2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AGPAT: 1-acylglycerol-3-phosphate O-acyltransferases

    2 InterPro protein domains:
     IPR002123 Plipid/glycerol_acylTrfase
     IPR004552 AGP_acyltrans

    Graphical View of Domain Structure for InterPro Entry O15120

    ProtoNet protein and cluster: O15120

    2 Blocks protein domains:
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB002123 Phospholipid/glycerol acyltransferase


    UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
    Domain: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the
    phosphate moiety of the glycerol-3-phosphate (By similarity)
    Similarity: Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family


    AGPAT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLCB_HUMAN, O15120
    Function: Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2
    position of the glycerol backbone
    Catalytic activity: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate

         Genatlas biochemistry entry for AGPAT2:
    lysophosphatidic acid acyltransferase (? beta),expressed in many tissues with highest expression in
    liver,pancreas,heart

         Enzyme Number (IUBMB): EC 2.3.1.511

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038411-acylglycerol-3-phosphate O-acyltransferase activity NAS9461603
    GO:0016746transferase activity, transferring acyl groups ----
         
    AGPAT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AGPAT2:
     Synthetic lethal with Ras 

         15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Agpat2):
     adipose tissue  behavior/neurological  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  renal/urinary system  skeleton 

    AGPAT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Agpat2tm1Garg for AGPAT2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AGPAT2 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGPAT2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDP-diacylglycerol biosynthesis I
    CDP-diacylglycerol biosynthesis I0.94
    triacylglycerol biosynthesis0.50
    phosphatidylglycerol biosynthesis II (non-plastidic)0.94
    Triacylglyceride Synthesis0.36
    2Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    5Fatty Acyl-CoA Biosynthesis
    Triglyceride Biosynthesis0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for AGPAT2 (see all 6)
        Adipogenesis
    Integrated Pancreatic Cancer Pathway
    CDP-diacylglycerol biosynthesis I
    Triacylglyceride Synthesis
    triacylglycerol biosynthesis


    5/7        Reactome Pathways for AGPAT2 (see all 7)
        Glycerophospholipid biosynthesis
    Synthesis of PA
    Metabolism
    Phospholipid metabolism
    Triglyceride Biosynthesis


    4         Kegg Pathways  (Kegg details for AGPAT2):
        Glycerolipid metabolism
    Glycerophospholipid metabolism
    Metabolic pathways
    Fat digestion and absorption

    UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
    Pathway: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol
    3-phosphate: step 2/3


    AGPAT2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AGPAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for AGPAT2 (O151203 ENSP000003607614) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLN3Q132863I2D: score=1 
    KRTAP4-12Q9BQ663I2D: score=1 
    PLSCR1O151623I2D: score=1 
    AGPAT6ENSP000003801844STRING: ENSP00000380184
    AGPAT9ENSP000002644094STRING: ENSP00000264409
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001819positive regulation of cytokine production IMP9212163
    GO:0001961positive regulation of cytokine-mediated signaling pathway IC9212163
    GO:0006644phospholipid metabolic process TAS--
    GO:0006654phosphatidic acid biosynthetic process TAS--
    GO:0008152metabolic process ----

    AGPAT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGPAT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AGPAT2 (PLCB)

    10/55 HMDB Compounds for AGPAT2 (see all 55)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    2 Novoseek inferred chemical compound relationships for AGPAT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    triacylglycerol 49.8 12 16495223 (4), 11967537 (1), 14557833 (1)
    lipid 20.8 5 19278620 (2), 15841084 (1), 18458148 (1)

    Search CenterWatch for drugs/clinical trials and news about AGPAT2 / PLCB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for AGPAT2 gene (2 alternative transcripts): 
    NM_001012727.1  NM_006412.3  

    Unigene Cluster for AGPAT2:

    1-acylglycerol-3-phosphate O-acyltransferase 2
    Hs.320151  [show with all ESTs]
    Unigene Representative Sequence: NM_006412
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371694 ENST00000371696(uc004cii.1 uc004cij.1) ENST00000472820
    ENST00000470861 ENST00000538402
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    Additional mRNA sequence: 

    AF000237.1 AF011374.1 BC000026.2 BC004529.2 BC007269.1 BC019292.1 U56418.2 

    9 DOTS entries:

    DT.92443814  DT.100811410  DT.91859871  DT.92443810  DT.95366130  DT.92443815  DT.100811408  DT.100811411 
    DT.92443809 

    24/378 AceView cDNA sequences (see all 378):

    BM920170 BM888116 CR597301 BQ668568 BM823277 CR603192 CR602303 BM045722 
    BM766310 CR590462 CR590402 CA488680 AI423817 BI457083 BU501760 BM817796 
    CK904733 BM930900 CR601358 BM768066 BM921501 BG338497 BM921502 BM460130 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AGPAT2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:              -                                 
    SP2:              -           -                     
    SP3:                                                


    ECgene alternative splicing isoforms for AGPAT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGPAT2 expression in normal human tissues (normalized intensities)      AGPAT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTGGGGAG
    AGPAT2 Expression
    About this image


    AGPAT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 12 entries
             Visceral White Adipocytes Visceral White Adipose
             adipose tissue   
     
     Colon (Gastrointestinal Tract)
             colonic mucosa   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See AGPAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGPAT2

    SOURCE GeneReport for Unigene cluster: Hs.320151

    UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
    Tissue specificity: Expressed predominantly in heart and liver

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AGPAT2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agpat21 , 5 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic more1, 5 80.58(n)1
    76.98(a)1
      2 (18.96 cM)5
    675121  NM_026212.11  NP_080488.11 
     265930575 
    chicken
    (Gallus gallus)
    Aves AGPAT21 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic more 66.15(n)
    58.14(a)
      772114  XM_001235299.2  XP_001235300.2 
    zebrafish
    (Danio rerio)
    Actinopterygii agpat26
    1-acylglycerol-3-phosphate O-acyltransferase 2 (ly...
    47(a)
    1 → many
    11(38513117-38547338)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38123 1-acylglycerol-3-phosphate
    O-acyltransferase
    41(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T06E8.13 1-acyl-SN-glycerol-3-phophate
    acyltransferase
    34(a)   V(10030899-10033686)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLC11 Slc1p 42.72(n)
    32.35(a)
      851508   NP_010231.1 


    ENSEMBL Gene Tree for AGPAT2 (if available)
    TreeFam Gene Tree for AGPAT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGPAT2 gene
    AGPAT12  
    1 SIMAP similar gene for AGPAT2 using alignment to 3 protein entries:     PLCB_HUMAN (see all proteins):
    AGPAT1

    AGPAT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/492 SNPs in AGPAT2 are shown (see all 492)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0173284
    Congenital generalized lipodystrophy 1 (CGL1)4--see VAR_0173282 G R mis40--------
    VAR_0173274
    Congenital generalized lipodystrophy 1 (CGL1)4--see VAR_0173272 L P mis40--------
    rs1459754611,2,4
    C,FCongenital generalized lipodystrophy 1 (CGL1)4 --109028265(+) CGTCCG/ACCGCA 4 /A /V mis11Minor allele frequency- A:0.00NA 4124
    rs1048941001,2
    Cpathogenic1109028298(-) GGTGCC/TGGAAG 4 P L mis10--------
    rs1048940931,2
    Cpathogenic1109032011(-) TCGTGC/TGAAGC 4 R * stg10--------
    rs454944981,2
    C,F--109027061(+) AAAAAT/CGAAAC 2 -- ds50011Minor allele frequency- C:0.03NA 120
    rs1125819051,2
    F--109027066(+) TGAAAC/TGTGAG 2 -- ds50012Minor allele frequency- T:0.04CSA WA 119
    rs1430307631,2
    C--109027323(+) CAGTAA/GCCTGA 2 -- ds50010--------
    rs1832008741,2
    --109027356(+) TAGGCA/GACACC 2 -- ds50010--------
    rs1864440421,2
    --109027432(+) GTGGCA/GGTGCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for AGPAT2 (139567595 - 139581911 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 variations for AGPAT2 (see all 28):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2739381CNV Deletion23290073
    esv2739382CNV Deletion23290073
    esv2422220CNV Deletion17116639
    nsv509334CNV Insertion20534489
    dgv8401n71CNV Loss21882294
    dgv8407n71CNV Loss21882294
    nsv894386CNV Loss21882294
    nsv894434CNV Loss21882294
    dgv8400n71CNV Loss21882294
    dgv955n27CNV Loss19166990


    Human Gene Mutation Database (HGMD): AGPAT2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AGPAT2
    DNA2.0 Custom Variant and Variant Library Synthesis for AGPAT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603100   
    OMIM disorders: 608594  
    UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
  • Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized
    by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis
    and early onset of diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/24 diseases for AGPAT2 (see all 24):    About MalaCards
    congenital generalized lipodystrophy    congenital generalized lipodystrophy type 1    lipodystrophy    berardinelli-seip congenital lipodystrophy
    mandibuloacral dysplasia    insulin resistance    acanthosis nigricans    distal hereditary motor neuropathy
    hypertriglyceridemia    multiple myeloma    hodgkin's lymphoma    acute leukemia
    non-hodgkin lymphoma    neuropathy    myeloma    osteosarcoma
    ovarian cancer    tuberculosis    diabetes mellitus    cervicitis

    3 diseases from the University of Copenhagen DISEASES database for AGPAT2:
    Lipodystrophy     Distal hereditary motor neuropathy     Acanthosis nigricans

    AGPAT2 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for AGPAT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipodystrophy, congenital generalized 97.8 20 19226263 (3), 11967537 (2), 14557833 (1), 18057387 (1) (see all 13)
    lipodystrophy 80.6 10 20097706 (2), 16409151 (1), 12788894 (1), 16722806 (1) (see all 7)
    lipodystrophy, familial partial 73.5 1 14516935 (1)
    insulin resistance 65.6 3 15908053 (1), 19026526 (1), 14516935 (1)
    ovarian cancer 21.7 8 16230405 (2), 15841084 (1), 16944535 (1)
    tumors 0 16 16944535 (7), 14578472 (4), 16230405 (1)
    cancer 0 3 14498826 (1), 16488473 (1)

    GeneTests: AGPAT2
    GeneReviews: AGPAT2
    Human Genome Epidemiology (HuGE) Navigator: AGPAT2 (1 document)

    Export disorders for AGPAT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AGPAT2 gene, integrated from 9 sources (see all 67):
    (articles sorted by number of sources associating them with AGPAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. (PubMed id 9212163)1, 2, 3, 9 West J.... Leung D.W. (1997)
    2. Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3. (PubMed id 9242711)1, 2, 3 Eberhardt C.... Tjoelker L.W. (1997)
    3. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PubMed id 11967537)1, 2, 9 Agarwal A.K.... Garg A. (2002)
    4. Acquired and inherited lipodystrophies. (PubMed id 15028826)1, 2 Garg A. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases. (PubMed id 9291118)1, 2 Stamps A.C....Finnen M.J. (1997)
    7. Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis. (PubMed id 15841084)1, 9 Niesporek S....Hauptmann S. (2005)
    8. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (PubMed id 15629135)1, 9 Haque W....Agarwal A.K. (2005)
    9. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (PubMed id 16435205)1, 9 Gomes K.B....Fernandes A.P. (2005)
    10. Novel mutations of the BSCL2 and AGPAT2 genes in 10 f amilies with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (PubMed id 19226263)1, 9 Miranda D.M....De Marco L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10555 HGNC: 325 AceView: AGPAT2 Ensembl:ENSG00000169692 euGenes: HUgn10555
    ECgene: AGPAT2 Kegg: 10555 H-InvDB: AGPAT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGPAT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGPAT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AGPAT2 gene:
    Search GeneIP for patents involving AGPAT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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