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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 related diseases
at

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(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:

NC_000009.12 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 plasmid: AGPAT2 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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

AGPAT2 Human Recombinant Protein Products:

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AGPAT2 Assay Products:

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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

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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 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/body	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: Let us create your new Knockout/Knockin mouse model for AGPAT2

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

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGPAT2

(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:

Compartment	Confidence
endoplasmic reticulum	4
extracellular	2
cytoskeleton	1
cytosol	1
lysosome	1
peroxisome	1
plasma membrane	1

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Gene Ontology (GO): 4 cellular component terms: 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 component of membrane	IEA	--

AGPAT2 for ontologies About GeneDecksing

(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

SuperPath

Contained pathways About

Glycerophospholipid biosynthesis

	Glycerophospholipid biosynthesis	0.64			Glycerophospholipid metabolism	0.62
	Phospholipid metabolism	0.64			Synthesis of PA	0.33

triacylglycerol biosynthesis

	triacylglycerol biosynthesis	0.48			Triacylglyceride Synthesis	0.36
	phosphatidylglycerol biosynthesis II (non-plastidic)	0.48			CDP-diacylglycerol biosynthesis I	0.00

Metabolism

	Metabolism	0.38			Metabolism of lipids and lipoproteins	0.37
	Metabolic pathways	0.38

Fatty acid, triacylglycerol, and ketone body metabolism

Fatty acid, triacylglycerol, and ketone body metabolism

0.65

Triglyceride Biosynthesis

Triglyceride Biosynthesis

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

AGPAT2 for pathways           About GeneDecksing

    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)

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

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Gene Ontology (GO): Selected biological process terms (see all 12): 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, 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

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)

AGPAT2 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

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

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)
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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	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_026212.2¹ 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

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), 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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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
				--	--	--		--	--
rs145975461^1,2,,4	C,F	Congenital generalized lipodystrophy 1 (CGL1)⁴ --	109028265(+)	`CGTCCG/ACCGCA`	4	/A /V	mis¹		1		NA	4124
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	--	--	--	--
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) Selected 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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing AGPAT2

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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.)
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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

Selected diseases for AGPAT2 (see all 25):
About MalaCards

congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy lipodystrophy congenital generalized lipodystrophy type 2

mandibuloacral dysplasia berardinelli-seip congenital lipodystrophy acanthosis nigricans insulin resistance

distal hereditary motor neuropathy hypertriglyceridemia multiple myeloma non-hodgkin lymphoma

hodgkin's lymphoma acute leukemia ovarian cancer myeloma

neuropathy osteosarcoma pancreatic cancer diabetes mellitus

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)
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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

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)
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)
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)
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)
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)
Acquired and inherited lipodystrophies. (PubMed id 15028826)^{1, 2} Garg A. (N. Engl. J. Med. 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. (Genome Res. 2004)
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)
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)
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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		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)
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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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Name	Description
PharmGKB entry for AGPAT2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AGPAT2[genesymbol]

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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