AGPAT2 Gene
protein-coding GIFtS : 63
GC09M138687
1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (Previous name: Berardinelli-Seip congenital lipodystrophy )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: BSCL )
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Aliases & Descriptions for AGPAT2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases 1-AGPAT2 2 BSCL 2 , 5 BSCL1 2 , 5 EC 2.3.1.51 3 LPAAB 2 , 5 LPAAT-beta 2 , 3 OTTHUMP00000022595 2 OTTHUMP00000022596 2
Descriptions 1-AGP acyltransferase 2 2 , 3 1-AGPAT 2 3 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 2 1-acylglycerol-3-phosphate O-acyltransferase 2 2 , 3 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) 2 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta) 2 Berardinelli-Seip congenital lipodystrophy 1 Lysophosphatidic acid acyltransferase beta 3 lysophosphatidic acid acyltransferase-beta 2
Search outside databases for aliases for AGPAT2 genePrevious GC identifers: GC09M130790 GC09M131257 GC09M133008 GC09M134924 GC09M136843
Summaries for AGPAT2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for AGPAT2 : This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The proteinis located within the endoplasmic reticulum membrane and converts lysophosphatidic acid tophosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this genehave been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seipsyndrome, a disease characterized by a near absence of adipose tissue and severe insulinresistance. Alternate transcriptional splice variants, encoding different isoforms, have beencharacterized. [provided by RefSeq] UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120 Function : Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acylmoiety at the sn-2 position of the glycerol backbone
Gene Wiki entry for AGPAT2
Genomic Location for AGPAT2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the AGPAT2 gene 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) GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M138687:
(about GC identifiers )
Start:
138,687,416 bp from pter
End:
138,701,732 bp from pter
Size:
14,317 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000009.10 NT_024000.16 Proteins for AGPAT2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 Q9BSV7 Q9BWR7Alternative splicing : 2 isoforms : O15120-1 O15120-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001012745.1 NP_006403.2 ENSEMBL proteins: ENSP00000360761 ENSP00000360759 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for AGPAT2: Assays for AGPAT2:
Protein
Domains/ Families for AGPAT2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O15120 ProtoNet protein and cluster: O15120
2 Blocks protein families : 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 bindingsite for the phosphate moiety of the glycerol-3-phosphate (By similarity) Similarity : Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family
Gene Function for AGPAT2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001012727 Applied Biosystems Silencer ® siRNAs for AGPAT2 Sigma-Aldrich siRNA for AGPAT2 Sigma-Aldrich shRNA for AGPAT2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001012727                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001012727                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001012727  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006412 UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120 Function : Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acylmoiety at the sn-2 position of the glycerol backbone Catalytic activity : Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol3-phosphate Enzyme Number (IUBMB): EC 2.3.1.51
Genatlas biochemistry entry for AGPAT2 :lysophosphatidic acid acyltransferase (? beta),expressed in many tissues with highest expression inliver,pancreas,heart
11 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Agpat2) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for AGPAT2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for AGPAT2 (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120 Pathway : Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol fromsn-glycerol 3-phosphate: step 2/3
Gene Network CentralTM Interacting Genes and Proteins Network for AGPAT2 5/29 Interacting proteins for AGPAT2 (ENSP00000360761 3 ) via UniProtKB, MINT, and/or STRING (see all 29
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006654 phosphatidic acid biosynthetic process
TAS 9212163 GO:0008152 metabolic process
IEA -- GO:0008654 phospholipid biosynthetic process
IEA --
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Drugs & Compounds for AGPAT2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for AGPAT2 2 Novoseek chemical compound relationships for AGPAT2 gene
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Transcripts for AGPAT2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001012727 Sigma-Aldrich siRNA for AGPAT2 Sigma-Aldrich shRNA for AGPAT2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001012727 NM_006412
REFSEQ mRNAs for AGPAT2 gene (2 alternative transcripts): NM_001012727.1 NM_006412.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001012727 NM_006412
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001012727                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001012727                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001012727  
Additional cDNA sequence: AF000237.1 AF011374.1 BC000026.2 BC004529.2 BC007269.1 BC019292.1 CR590402.1 CR590462.1 CR592360.1 CR597301.1 CR598618.1 CR601358.1 CR602303.1 CR603192.1 CR605868.1 CR611946.1 CR615685.1 CR623942.1 CR624126.1 CR625982.1 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
):CR597301 BM921501 CR592360 BM767629 BM558647 CR603192 BE731016 BM460130 BM470261 BM069745 CR623942 AI611052 BI907617 AA814626 CR590402 AA877363 BM817796 BM045722 BI835051 BM914841 CR598618 CA488680 BM930900 BU541108
highest scoring ESTs for AGPAT2 :AF000237 AF011374 AL519660 AL527790 AL556351 AL564457 AW732472 BC000026 BC004529 BC019292
Unigene Cluster for AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) Hs.320151 [show with all ESTs ] Unigene Representative Sequence: NM_006412 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for AGPAT2 ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b SP1 :     -             SP2 :     -     -         SP3 :                
About this scheme ECgene alternative splicing isoforms for AGPAT2 2 Ensembl transcripts including schematic representations : ENST00000371696
ENST00000371694
Expression for AGPAT2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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AGPAT2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for AGPAT2 1 / 2 / 3
8 probe-sets matching AGPAT2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACCTGGGGAGSOURCE GeneReport for Unigene cluster: Hs.320151 Expression variation in blood from EXPOLDB for AGPAT2
UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120 Tissue specificity : Expressed predominantly in heart and liver
Orthologs for AGPAT2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for AGPAT2 gene from 5/14 species (see all 14
)
About this table Species with no ortholog for AGPAT2 ENSEMBL Gene Tree for AGPAT2 Paralogs for AGPAT2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for AGPAT2 gene ENSG00000204310 2
SNPs/Variants for AGPAT2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for AGPAT2 (up to first 250kb)
Disorders & Mutations for AGPAT2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603100 disorders : 608594 UniProtKB/Swiss-Prot: PLCB_HUMAN, O15120
Defects in AGPAT2 are the cause of congenital generalized lipodystrophy type 1 (CGL1)[MIM:608594]; also known as Berardinelli-Seip congenital lipodystrophy type 1 (BSCL1) orBerardinelli-Seip syndrome. CGL1 is an autosomal recessive disorder characterized by markedpaucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis andearly onset of diabetes
7 Novoseek disease relationships for AGPAT2 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
lipodystrophy, congenital generalized
97.72
15
11967537 (2), 14557833 (1), 18057387 (1), 14557463 (1) (see all 11 )
lipodystrophy
79.10
6
16409151 (1), 12788894 (1), 16722806 (1), 18698612 (1) (see all 5 )
lipodystrophy, familial partial
75.25
1
14516935 (1)
insulin resistance
62.69
3
15908053 (1), 19026526 (1), 14516935 (1)
ovarian cancer
24.62
8
16230405 (2), 15841084 (1), 16944535 (1)
cancer
0.00
3
14498826 (1), 16488473 (1)
tumors
0.00
16
16944535 (7), 14578472 (4), 16230405 (1)
About this table GeneTests: AGPAT2 Berardinelli-Seip Congenital Lipodystrophy Human Gene Mutation Database : AGPAT2
Medical News for AGPAT2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for AGPAT2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/48 PubMed articles for AGPAT2 gene (see all 48
): Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. (PubMed id 9212163) 1, 2, 3, 4 West J....Leung D.W. (1997) Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3. (PubMed id 9242711) 2, 3, 4 Eberhardt C.... Tjoelker L.W. (1997) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PubMed id 11967537) 1, 3, 4 Agarwal A.K.... Garg A. (2002) Acquired and inherited lipodystrophies. (PubMed id 15028826) 3, 4 Garg A. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases. (PubMed id 9291118) 3, 4 Stamps A.C....Finnen M.J. (1997) Expression of lysophosphatidic acid acyltransferase beta (LPAAT-beta) in ovarian carcinoma: correlation with tumour grading and prognosis. (PubMed id 15841084) 1, 3 Niesporek S....Hauptmann S. (2005) Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (PubMed id 15629135) 1, 3 Haque W....Agarwal A.K. (2005) Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (PubMed id 16435205) 1, 3 Gomes K.B....Fernandes A.P. (2005) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (PubMed id 14602785) 1, 3 Simha V. and Garg A. (2003)
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Genome Databases showing AGPAT2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing AGPAT2
(According to HUGE )
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Specialized Databases showing AGPAT2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=AGPAT2
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-- Services for AGPAT2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009