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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AGPAT2 Gene

protein-coding GIFtS: 64
GCID: GC09M139567

1-acylglycerol-3-phosphate O-acyltransferase 2

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

Explore 24 diseases affiliated with
AGPAT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
1-Acylglycerol-3-Phosphate O-Acyltransferase 2¹ ² ³		BSCL1² ⁵
BSCL¹ ² ⁵		LPAAB² ⁵
1-Acylglycerol-3-Phosphate O-Acyltransferase 2 (Lysophosphatidic Acid Acyltransferase, Beta)¹ ²		Berardinelli-Seip Congenital Lipodystrophy¹
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
LPAAT-Beta¹		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:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15120

AGPAT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001012745.1 NP_006403.2

ENSEMBL proteins:

ENSP00000360759 ENSP00000360761 ENSP00000438919

Reactome Protein details: O15120
Human Recombinant Protein Products for AGPAT2:

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	Uscn Proteins for AGPAT2

Gene Ontology (GO): 3 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:0016021	integral to membrane	IEA	--

AGPAT2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for AGPAT2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AGPAT2 for domains About GeneDecksing

2 InterPro domains/families:

IPR002123 Plipid/glycerol_acylTrfase

IPR004552 AGP_acyltrans

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 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 1 molecular function term (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

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:
Mouse knock-out Agpat2^tm1Garg for AGPAT2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for AGPAT2

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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, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

CDP-diacylglycerol biosynthesis I

	CDP-diacylglycerol biosynthesis I	1.00			triacylglycerol biosynthesis	0.50
	phosphatidylglycerol biosynthesis II (non-plastidic)	0.94			Triacylglyceride Synthesis	0.17

Glycerophospholipid biosynthesis

	Glycerophospholipid biosynthesis	1.00			Glycerophospholipid metabolism	0.54
	Phospholipid metabolism	0.64

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

Adipogenesis

Adipogenesis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 BioSystems Pathways for AGPAT2 (see all 7)

	Adipogenesis
	Integrated Pancreatic Cancer Pathway
	Integrated Pancreatic Cancer Pathway
	CDP-diacylglycerol biosynthesis I
	Triacylglyceride Synthesis

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): 5/10 biological process terms (GO ID links to tree view) (see all 10): 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:0008544	epidermis development	--	--

AGPAT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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 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 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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 (lysophosphatidic acid acyltransferase, beta)

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 cDNA 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):

BM768066 BM766310 BM764680 BQ668568 BM460130 BU541108 BU501760 BI518656

CR598618 BM847203 CR590462 BM694682 CR624126 CR601358 BM888116 CR615685

BG423942 BM823277 CR590402 BQ672144 CR625982 BG740391 BQ425966 BM045722

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCTGGGGAG

About this image

AGPAT2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Body Subcutaneous White Adipose

Subcutaneous White Adipocytes

Selective marker (cell-identifying gene)

Adipose

Cranial Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Cranial Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Facial Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Visceral White Adipose

Visceral White Adipocytes

Adipose

Body Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Facial Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Visceral White Adipose

Visceral White Preadipocytes

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SABiosciences Custom PCR Arrays for AGPAT2

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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 last universal common ancestor (LUCA).

Orthologs for AGPAT2 gene from 9/29 species (see all 29) 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 ↔ 1	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
thale cress (Arabidopsis thaliana)	eudicotyledons	EMB1995⁶	1-acyl-sn-glycerol-3-phosphate acyltransferase 1	14(a)	1 → many	4(14932334-14934528)
rice (Oryza sativa)	Liliopsida	-- --	acyltransferase, putative, expressed	19(a) 15(a)	many ↔ many many ↔ many	4(31601482-31603139) 10(18845603-18848911)
E. coli (Escherichia coli)	Gamma proteobacteria	plsC⁶	1-acyl-sn-glycerol-3-phosphate acyltransferase	26(a)	1 → many	Chromosome(3160766-3161503)

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, UniProtKB, 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
				--	--	--		--	--
rs104894100^1,2	C	pathogenic	109028298(-)	`GGTGCC/TGGAAG`	4	P L	mis¹		0	--	--	--	--
rs104894093^1,2	C	pathogenic	109032011(-)	`TCGTGC/TGAAGC`	4	R *	stg¹		0	--	--	--	--
rs45494498^1,2	C,F	--	109027061(+)	`AAAAAT/CGAAAC`	2	--	ds500¹		1		NA	120
rs112581905^1,2		--	109027066(+)	`TGAAAC/TGTGAG`	2	--	ds500¹		2		CSA WA	119
rs79264483^1,2	F	--	109027477(+)	`GACACA/GGCGTC`	2	--	ds500¹		2		WA NA	238
rs113127797^1,2	F	--	109027779(+)	`GGCTCG/AGACAG`	2	--	ut3¹		2		CSA	4
rs56310643^1,2	C,F	--	109027905(+)	`GGTGCC/TGTGGG`	2	--	ut3¹		1		WA	118
rs55754159^1,2	C	--	109027936(+)	`CCCGGA/GGAGGG`	2	--	ut3¹		0	--	--	--	--
rs112657922^1,2		--	109028065(+)	`AAGCCG/CGGAGG`	2	--	ut3¹		3		CSA WA	121
rs73668353^1,2	C	--	109028615(+)	`GGCCTC/GTGCCC`	2	--	int¹		2		WA	120

HapMap Linkage Disequilibrium report for AGPAT2 (139567595 - 139581911 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 14 variations for AGPAT2
14 CNVs: 3785 30350 5415 30359 31535 30355 30351 53532 30357 30348 30358 53172 7732 30352
Human Gene Mutation Database (HGMD): AGPAT2

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AGPAT2

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(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.)
About This Section

AGPAT2 for disorders           About GeneDecksing

OMIM gene information: 603100
OMIM 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) or Berardinelli-Seip syndrome. CGL1 is an autosomal

recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance,

hypertriglyceridemia, hepatic steatosis and early onset of diabetes

20/24 diseases for AGPAT2 (see all 24): About MalaCards

lipodystrophy congenital generalized lipodystrophy insulin resistance congenital generalized lipodystrophy type 1

distal hereditary motor neuropathy acanthosis nigricans mandibuloacral dysplasia non-hodgkin lymphoma

hodgkin's lymphoma diabetes mellitus multiple myeloma hypertriglyceridemia

ovarian cancer neuropathy acute leukemia myeloma

ovarian carcinoma osteosarcoma leukemia cervicitis

3 diseases from the University of Copenhagen DISEASES database for AGPAT2:

Lipodystrophy Distal hereditary motor neuropathy Acanthosis nigricans

7 Novoseek 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

Berardinelli-Seip Congenital Lipodystrophy

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 64):
(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
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(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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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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