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AGPAT2 Gene

protein-coding   GIFtS: 67
GCID: GC09M139567

1-Acylglycerol-3-Phosphate O-Acyltransferase 2

(Previous names: Berardinelli-Seip congenital lipodystrophy, 1-acylglycerol-3-phosphate...)
(Previous symbol: BSCL)
  See AGPAT2-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 type 1, and congenital generalized lipodystrophy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   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 Chromatin IP Primers for AGPAT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120 (See protein sequence)
Recommended Name: 1-acyl-sn-glycerol-3-phosphate acyltransferase beta precursor  
Size: 278 amino acids; 30914 Da
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: 

  • Ubiquitination2 at Lys166, Lys261
  • Modification sites at PhosphoSitePlus

  • See AGPAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000360759   ENSP00000360761   ENSP00000438919  
    Reactome Protein details: O15120

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

    2 InterPro protein domains:
     IPR004552 AGP_acyltrans
     IPR002123 Plipid/glycerol_acylTrfase

    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


    Find genes that share domains with AGPAT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038411-acylglycerol-3-phosphate O-acyltransferase activity NAS9461603
    GO:0016746transferase activity, transferring acyl groups ----
         
    Find genes that share ontologies with AGPAT2           About GenesLikeMe


    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/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  renal/urinary system  skeleton 

    Find genes that share phenotypes with AGPAT2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Agpat2tm1Garg for AGPAT2

       genOway: Develop your customized and physiologically relevant rodent model for AGPAT2

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    hsa-miR-3163 hsa-miR-340
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PLCB_HUMAN, O15120: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular2
    cytoskeleton1
    cytosol1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with AGPAT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AGPAT2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Glycerophospholipid metabolism0.62
    Phospholipid metabolism0.64
    Synthesis of PA0.33
    2triacylglycerol biosynthesis
    triacylglycerol biosynthesis0.48
    Triacylglyceride Synthesis0.36
    phosphatidylglycerol biosynthesis II (non-plastidic)0.48
    CDP-diacylglycerol biosynthesis I0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    5Triglyceride Biosynthesis
    Triglyceride Biosynthesis


    Find genes that share SuperPaths with AGPAT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2 Reactome Pathways for AGPAT2
        Synthesis of PA
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGPAT2
    Interactions:

        GeneGlobe Interaction Network for AGPAT2

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

    Selected Interacting proteins for AGPAT2 (O151203 ENSP000003607614) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

    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): Selected biological process terms (see all 12):    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 ----

    Find genes that share ontologies with AGPAT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AGPAT2 (PLCB)

    Selected 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)



    Find genes that share compounds with AGPAT2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 

    Selected AceView cDNA sequences (see all 378):

    BM930900 BM921502 CR597301 BM694682 BI907617 BQ425966 BM766310 BM767629 
    CR598618 BI518656 CR625982 BM045722 BI835051 AI611052 BM470261 BM914841 
    BQ900293 CR611946 CK904733 BE731016 BM069745 BM847203 BI193053 CR623942 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AGPAT2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 7 entries
             Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
     
     Kidney (Urinary System)
             Metanephros
    AGPAT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGPAT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.320151

    UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
    Tissue specificity: Expressed predominantly in adipose tissue, pancreas 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AGPAT2 gene from Selected species (see all 14)    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_026212.21  NP_080488.11 
     265930575 
    chicken
    (Gallus gallus)
    Aves AGPAT21 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic more 65.59(n)
    57.26(a)
      772114  XM_001235299.3  XP_001235300.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    46(a)
    40(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    6(71689481-71705555)
    2(189598257-189632608)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia agpat21 1-acylglycerol-3-phosphate O-acyltransferase 2 65.22(n)
    58.27(a)
      100170486  NM_001130269.1  NP_001123741.1 
    zebrafish
    (Danio rerio)
    Actinopterygii agpat26
    1-acylglycerol-3-phosphate O-acyltransferase 2 (ly...
    47(a)
    1 ↔ 1
    11(38513117-38547338) ENSDARG00000068437
    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 SLC16
    1-acyl-sn-glycerol-3-phosphate acyltransferase, ca...
    23(a)
    1 → many
    IV(362672-363583) YDL052C


    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)
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    Paralogs for AGPAT2 gene
    AGPAT12  
    1 SIMAP similar gene for AGPAT2 using alignment to 3 protein entries:     PLCB_HUMAN (see all proteins):
    AGPAT1

    Find genes that share paralogs with AGPAT2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGPAT2 (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
    ----------
    rs1459754611,2,,4
    C,FCongenital generalized lipodystrophy 1 (CGL1)4 --109028265(+) CGTCCG/ACCGCA 4 /A /V mis11Minor allele frequency- A:0.00NA 4124
    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--------
    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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 8 diseases for AGPAT2:    
    About MalaCards
    congenital generalized lipodystrophy type 1    congenital generalized lipodystrophy    lipodystrophy    congenital generalized lipodystrophy type 2
    berardinelli-seip congenital lipodystrophy    mandibuloacral dysplasia    insulin resistance    bardet-biedl syndrome 11

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

    Find genes that share disorders with AGPAT2           About GenesLikeMe

    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)
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    PubMed articles for AGPAT2 gene, integrated from 10 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. (DNA Cell Biol. 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. (J. Biol. Chem. 1997)
    3. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (PubMed id 15629135)1, 2, 9 Haque W....Agarwal A.K. (Biochem. Biophys. Res. Commun. 2005)
    4. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PubMed id 11967537)1, 2, 9 Agarwal A.K.... Garg A. (Nat. Genet. 2002)
    5. Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice. (PubMed id 21873652)1, 2 Agarwal A.K....Garg A. (J. Biol. Chem. 2011)
    6. Acquired and inherited lipodystrophies. (PubMed id 15028826)1, 2 Garg A. (N. Engl. J. Med. 2004)
    7. 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. (Genome Res. 2004)
    8. A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases. (PubMed id 9291118)1, 2 Stamps A.C....Finnen M.J. (Biochem. J. 1997)
    9. 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. (Br. J. Cancer 2005)
    10. 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. (J. Inherit. Metab. Dis. 2005)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 10555 HGNC: 325 AceView: AGPAT2 Ensembl:ENSG00000169692 euGenes: HUgn10555
    ECgene: AGPAT2 Kegg: 10555 H-InvDB: AGPAT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AGPAT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AGPAT2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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