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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

MalaCards

(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 plasmid: AGPAT2 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

REFSEQ proteins (2 alternative transcripts):

NP_001012745.1 NP_006403.2

ENSEMBL proteins:

ENSP00000360759 ENSP00000360761 ENSP00000438919

Reactome Protein details: O15120
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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0016020	membrane	--	--
GO:0016021	integral 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	NAS	9461603
GO:0016746	transferase 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 Agpat2^tm1Garg for AGPAT2

inGenious Targeting Laboratory - Custom generated mouse model solutions for AGPAT2

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genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGPAT2

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		hsa-miR-3163 hsa-miR-340
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGPAT2

(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

SuperPath

Contained pathways About

CDP-diacylglycerol biosynthesis I

	CDP-diacylglycerol biosynthesis I	0.94			triacylglycerol biosynthesis	0.50
	phosphatidylglycerol biosynthesis II (non-plastidic)	0.94			Triacylglyceride Synthesis	0.36

Glycerophospholipid biosynthesis

	Glycerophospholipid biosynthesis	0.64			Glycerophospholipid metabolism	0.62
	Phospholipid metabolism	0.64

Metabolism

	Metabolism	0.40			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.40

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

Fatty acid, triacylglycerol, and ketone body metabolism

0.52

Fatty Acyl-CoA Biosynthesis

Triglyceride Biosynthesis

0.47

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 Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CLN3	Q13286³	I2D: score=1
KRTAP4-12	Q9BQ66³	I2D: score=1
PLSCR1	O15162³	I2D: score=1
AGPAT6	ENSP00000380184⁴	STRING: ENSP00000380184
AGPAT9	ENSP00000264409⁴	STRING: 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0001819	positive regulation of cytokine production	IMP	9212163
GO:0001961	positive regulation of cytokine-mediated signaling pathway	IC	9212163
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006654	phosphatidic acid biosynthetic process	TAS	--
GO:0008152	metabolic 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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AGPAT2 (PLCB)

10/55 HMDB Compounds for AGPAT2 (see all 55) About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Decenoyl-CoA	(E)-S-2-decenoate Coenzyme A (see all 15)	10018-95-8	--
(2E)-Dodecenoyl-CoA	2-trans-Dodecenoyl-Coenzyme A (see all 4)	1066-12-2	--
(2E)-Hexadecenoyl-CoA	trans-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-CoA	2-methylbutanoyl-CoA (see all 11)	6712-02-3	--
2-Methylhexanoyl-CoA	2-Methylhexanoyl-CoEnzyme A (see all 5)	--	--
3Z-dodecenoyl-CoA	S-[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-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Acrylyl-CoA	Acryloyl 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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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
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

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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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGPAT2

(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	Agpat2^{1 , 5}	1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic more^{1, 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

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_017328⁴		Congenital generalized lipodystrophy 1 (CGL1)⁴	--	see VAR_017328	2	G R	mis⁴		0	--	--	--	--
VAR_017327⁴		Congenital generalized lipodystrophy 1 (CGL1)⁴	--	see VAR_017327	2	L P	mis⁴		0	--	--	--	--
rs145975461^1,2,4	C,F	Congenital generalized lipodystrophy 1 (CGL1)⁴ --	109028265(+)	`CGTCCG/ACCGCA`	4	/A /V	mis¹		1		NA	4124
rs104894100^1,2	C	pathogenic¹	109028298(-)	`GGTGCC/TGGAAG`	4	P L	mis¹		0	--	--	--	--
rs104894093^1,2	C	pathogenic¹	109032011(-)	`TCGTGC/TGAAGC`	4	R *	stg¹		0	--	--	--	--
rs45494498^1,2	C,F	--	109027061(+)	`AAAAAT/CGAAAC`	2	--	ds500¹		1		NA	120
rs112581905^1,2	F	--	109027066(+)	`TGAAAC/TGTGAG`	2	--	ds500¹		2		CSA WA	119
rs143030763^1,2	C	--	109027323(+)	`CAGTAA/GCCTGA`	2	--	ds500¹		0	--	--	--	--
rs183200874^1,2		--	109027356(+)	`TAGGCA/GACACC`	2	--	ds500¹		0	--	--	--	--
rs186444042^1,2		--	109027432(+)	`GTGGCA/GGTGCC`	2	--	ds500¹		0	--	--	--	--

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 ID	Type	Subtype	PubMed ID
esv2739381	CNV	Deletion	23290073
esv2739382	CNV	Deletion	23290073
esv2422220	CNV	Deletion	17116639
nsv509334	CNV	Insertion	20534489
dgv8401n71	CNV	Loss	21882294
dgv8407n71	CNV	Loss	21882294
nsv894386	CNV	Loss	21882294
nsv894434	CNV	Loss	21882294
dgv8400n71	CNV	Loss	21882294
dgv955n27	CNV	Loss	19166990

Human Gene Mutation Database (HGMD): AGPAT2

SABiosciences Cancer Mutation PCR Assays

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(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

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)
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)
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PubMed id 11967537)^{1, 2, 9} Agarwal A.K.... Garg A. (2002)
Acquired and inherited lipodystrophies. (PubMed id 15028826)^{1, 2} Garg A. (2004)
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)
A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases. (PubMed id 9291118)^{1, 2} 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, 9} 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, 9} 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, 9} Gomes K.B....Fernandes A.P. (2005)
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)
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		AND	OR
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)
About This Section

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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AGPAT2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGPAT2

Intellectual Property for AGPAT2 gene
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Patent Information for AGPAT2 gene:
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GeneCards and IP:
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AGPAT2 Gene

1-Acylglycerol-3-Phosphate O-Acyltransferase 2

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AGPAT2 Gene

1-Acylglycerol-3-Phosphate O-Acyltransferase 2

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