AGPAT2 Gene(Protein Coding)

1-Acylglycerol-3-Phosphate O-Acyltransferase 2

GCID:: GC09M136673

GIFtS:: 54

Genes Participants

Aliases for AGPAT2 Gene

1-Acylglycerol-3-Phosphate O-Acyltransferase 2 ² ³ ⁴ ⁵
1-Acylglycerol-3-Phosphate O-Acyltransferase 2 (Lysophosphatidic Acid Acyltransferase, Beta) ² ³
1-AGP Acyltransferase 2 ³ ⁴
LPAAT-Beta ³ ⁴
1-AGPAT 2 ³ ⁴
1-Acyl-Sn-Glycerol-3-Phosphate Acyltransferase Beta ³
Lysophosphatidic Acid Acyltransferase, Beta ²
Berardinelli-Seip Congenital Lipodystrophy ²
Lysophosphatidic Acid Acyltransferase-Beta ³

Lysophosphatidic Acid Acyltransferase Beta ⁴
Testicular Tissue Protein Li 143 ³
EC 2.3.1.51 ⁴
1-AGPAT2 ³
BSCL1 ³
LPAAB ³
BSCL ³

External Ids for AGPAT2 Gene

HGNC: 325
Entrez Gene: 10555
Ensembl: ENSG00000169692
OMIM: 603100
UniProtKB: O15120

Previous HGNC Symbols for AGPAT2 Gene

BSCL

Previous GeneCards Identifiers for AGPAT2 Gene

GC09M130790
GC09M131257
GC09M133008
GC09M134924
GC09M136843
GC09M138687
GC09M139567
GC09M109027

Search aliases for AGPAT2 gene in PubMed and other databases

Summaries for AGPAT2 Gene

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 Lipodystrophy, Congenital Generalized, Type 1 and Congenital Generalized Lipodystrophy. Among its related pathways are Innate Immune System and Fat digestion and absorption. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is AGPAT1.

UniProtKB/Swiss-Prot for AGPAT2 Gene

PLCB_HUMAN,O15120

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

Additional gene information for AGPAT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGPAT2 Gene

Genomics for AGPAT2 Gene

GeneHancer (GH) Regulatory Elements for AGPAT2 Gene

Promoters and enhancers for AGPAT2 Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH09I136684	Promoter/Enhancer	2.2	EPDnew Ensembl ENCODE dbSUPER	559.1	+0.3	305	4.7	SIN3A IRF4 YY1 POLR2B ZNF207 ZNF143 JUNB REST SMARCB1 ZNF592	AGPAT2 DPH7 INPP5E EXD3 ARRDC1-AS1 ANAPC2 QSOX2 NPDC1 AJM1 SNAPC4
GH09I136653	Promoter/Enhancer	2.7	EPDnew FANTOM5 Ensembl ENCODE dbSUPER	24.8	+25.0	25038	17.1	HDGF HNRNPUL1 SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 GLIS2 GATA2	EGFL7 GC09M136660 HSPC324 AGPAT2 SNHG7 DPH7 EHMT1 ANAPC2 EXD3 MAN1B1
GH09I136642	Enhancer	1.8	FANTOM5 Ensembl ENCODE dbSUPER	19.1	+42.4	42369	5.8	HDGF PKNOX1 CLOCK ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B	LOC105376325 EGFL7 AGPAT2 FAM69B SEC16A C9orf163 MAN1B1 ARRDC1-AS1 NOTCH1 UAP1L1
GH09I136673	Enhancer	1.1	ENCODE dbSUPER	15.7	+12.0	11958	3.7	HNRNPUL1 ATF1 ARID4B YY1 GLIS2 ZNF213 RXRA SP5 PPARG NFIL3	SNHG7 EHMT1 AGPAT2 FAM69B SEC16A DNLZ MIR126
GH09I136678	Enhancer	1.1	Ensembl ENCODE dbSUPER	15.6	+8.2	8167	1.8	PKNOX1 ZNF687 SAP130 CEBPB TGIF2 CTBP1 GATA3 POLR2A PATZ1 CREB1	AGPAT2 TMEM141 MIR126

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGPAT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGPAT2 gene promoter:

Regulatory Element Products

Genomic Locations for AGPAT2 Gene

chr9:136,673,143-136,687,459: (GRCh38/hg38)

Size:: 14,317 bases
Orientation:: Minus strand

chr9:139,567,595-139,581,911: (GRCh37/hg19)

Genomic View for AGPAT2 Gene

Genes around AGPAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

9q34.3 by Ensembl
9q34.3 by Entrez Gene
9q34.3 by HGNC

AGPAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)

Genomic Location for AGPAT2 Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AGPAT2 Gene

Proteins for AGPAT2 Gene

Protein details for AGPAT2 Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

O15120-PLCB_HUMAN

Recommended name:

1-acyl-sn-glycerol-3-phosphate acyltransferase beta

Protein Accession:

O15120

Secondary Accessions:
- O00516
- O15106
- Q5VUD3
- Q5VUD4
- Q9BSV7
- Q9BWR7
Protein attributes for AGPAT2 Gene

Size:

278 amino acids

Molecular mass:

30914 Da

Quaternary structure:

No Data Available
Alternative splice isoforms for AGPAT2 Gene
UniProtKB/Swiss-Prot:
O15120-1

O15120-2

neXtProt entry for AGPAT2 Gene

Protein Expression for AGPAT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AGPAT2 Gene

Ubiquitination at posLast=166166 and posLast=261261
- NX_O15120

Other Protein References for AGPAT2 Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibody Products

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Protein Products

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Abcam proteins for AGPAT2
- Agpat2

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No data available for DME Specific Peptides for AGPAT2 Gene

Domains & Families for AGPAT2 Gene

Gene Families for AGPAT2 Gene

HGNC:

46 : 1-acylglycerol-3-phosphate O-acyltransferases

Human Protein Atlas (HPA):

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Protein Domains for AGPAT2 Gene

InterPro:

Blocks:

ProtoNet:

O15120

Suggested Antigen Peptide Sequences for AGPAT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15120

UniProtKB/Swiss-Prot:

PLCB_HUMAN :

The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.

Domain:

The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.

Family:

Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.

Function for AGPAT2 Gene

Molecular function for AGPAT2 Gene

GENATLAS Biochemistry:

lysophosphatidic acid acyltransferase (? beta),expressed in many tissues with highest expression in liver,pancreas,heart

AGPAT2

UniProtKB/Swiss-Prot CatalyticActivity:

Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.

PLCB_HUMAN,O15120

UniProtKB/Swiss-Prot Function:

Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.

PLCB_HUMAN,O15120

Enzyme Numbers (IUBMB) for AGPAT2 Gene

EC 2.3.1.51 ⁴

Phenotypes From GWAS Catalog for AGPAT2 Gene

Gene Ontology (GO) - Molecular Function for AGPAT2 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS	--
GO:0016740	transferase activity	IEA	--
GO:0016746	transferase activity, transferring acyl groups	IEA	--

Phenotypes for AGPAT2 Gene

MGI mutant phenotypes for AGPAT2:

inferred from 2 alleles

GenomeRNAi human phenotypes for AGPAT2:

Human Phenotype Ontology for AGPAT2 Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for AGPAT2 Gene

MGI Knock Outs for AGPAT2:

Agpat2 ^tm1Garg

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miRNA for AGPAT2 Gene

miRTarBase miRNAs that target AGPAT2

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- AGPAT2 knockout cell line

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No data available for Transcription Factor Targets and HOMER Transcription for AGPAT2 Gene

Localization for AGPAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGPAT2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

O15120-PLCB_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
plasma membrane	5
endoplasmic reticulum	5
extracellular	2
cytoskeleton	2
peroxisome	1
nucleus	1
lysosome	1

Subcellular locations from the

Human Protein Atlas (HPA)

Centrosome (2)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGPAT2 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	IEA	--
GO:0016021	integral component of membrane	IEA	--

Pathways & Interactions for AGPAT2 Gene

SuperPathways for AGPAT2 Gene

More details on SuperPathways for AGPAT2

	SuperPathway	Contained pathways
1	Glycerophospholipid biosynthesis	Glycerophospholipid biosynthesis .63 Phospholipid metabolism .63	Glycerophospholipid metabolism .46
2	Metabolism	Metabolism .37 Metabolism of lipids and lipoproteins .37	Metabolic pathways .36
3	Innate Immune System	Immune System .61 Innate Immune System .61	Neutrophil degranulation .38
4	triacylglycerol biosynthesis	CDP-diacylglycerol biosynthesis .47 triacylglycerol biosynthesis .47	Triacylglyceride Synthesis .34
5	Fat digestion and absorption	Fat digestion and absorption -

Pathways by source for AGPAT2 Gene

1 Cell Signaling Technology pathway for AGPAT2 Gene

Glucose / Energy Metabolism

4 BioSystems pathways for AGPAT2 Gene

10 Reactome pathways for AGPAT2 Gene

5 KEGG pathways for AGPAT2 Gene

UniProtKB/Swiss-Prot O15120-PLCB_HUMAN

Pathway: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.

Interacting Proteins for AGPAT2 Gene

http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360761%0d%0a9606.ENSP00000264775%0d%0a9606.ENSP00000265276%0d%0a9606.ENSP00000360296%0d%0a9606.ENSP00000251473%0d%0a9606.ENSP00000381302%0d%0a — STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins: ENSP00000360761 O15120-PLCB_HUMAN for AGPAT2 Gene via STRING IID

Symbol	External ID(s)	Details
ABCG8	ENSP00000272286 ²⁰ Q9H221 ¹³⁷	STRING: ENSP00000272286 IID: # exp=1
AGPAT1	Q99943 ¹³⁷ ENSP00000337463 ²⁰	IID: # pred=1 STRING: ENSP00000337463
AGPAT5	ENSP00000285518 ²⁰ Q9NUQ2 ¹³⁷	STRING: ENSP00000285518 IID: # pred=1
GMPS	ENSP00000419851 ²⁰ P49915 ¹³⁷	STRING: ENSP00000419851 IID: # exp=1
HIST1H1D	ENSP00000244534 ²⁰ P16402 ¹³⁷	STRING: ENSP00000244534 IID: # exp=1

Gene Ontology (GO) - Biological Process for AGPAT2 Gene

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:0006629	lipid metabolic process	IEA	--
GO:0006644	phospholipid metabolic process	NAS	9461603
GO:0006654	phosphatidic acid biosynthetic process	TAS,IGI	--

No data available for SIGNOR curated interactions for AGPAT2 Gene

Drugs & Compounds for AGPAT2 Gene

(3) Drugs for AGPAT2 Gene - From: HMDB

Name	Status	Disease Links	Group
Hexanoyl-CoA	Experimental	MalaCards Medline Plus	Pharma
Propanoyl-CoA	Experimental	MalaCards Medline Plus	Pharma
Coenzyme A	Investigational	MalaCards Medline Plus	Nutra

(54) Additional Compounds for AGPAT2 Gene - From: HMDB and Novoseek

Name	Synonyms	CAS Number	PubChem IDs	PubMed IDs
(2E)-Decenoyl-CoA	(E)-S-2-decenoate (E)-S-2-decenoate CoA (E)-S-2-decenoate Coenzyme A (E)-S-2-decenoic acid 2-trans-Decenoyl-CoA	MalaCards Medline Plus	10018-95-8	5280768
(2E)-Dodecenoyl-CoA	(2E)-Dodec-2-enoyl-CoA (2E)-Dodec-2-enoyl-Coenzyme A 2-trans-Dodecenoyl-CoA 2-trans-Dodecenoyl-Coenzyme A	MalaCards Medline Plus	1066-12-2	45266564
(2E)-Hexadecenoyl-CoA	(2E)-Hexadecenoyl-CoA (2E)-Hexadecenoyl-Coenzyme A trans-2-Hexadecenoyl-CoA trans-2-Hexadecenoyl-Coenzyme A	MalaCards Medline Plus	4460-95-1	46173176
(2E)-Octenoyl-CoA	(E)-S-2-octenoate (E)-S-2-octenoate CoA (E)-S-2-octenoate Coenzyme A (E)-S-2-octenoic acid 2,3-trans-Octenoyl coenzyme A	MalaCards Medline Plus	10018-94-7	5280769
(2E)-Tetradecenoyl-CoA	(2E)-Tetradecenoyl-CoA (2E)-Tetradecenoyl-Coenzyme A Trans-tetra-dec-2-enoyl-CoA Trans-tetra-dec-2-enoyl-CoA. Trans-tetra-dec-2-enoyl-Coenzyme A	MalaCards Medline Plus	38795-33-4	5280767

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Transcripts for AGPAT2 Gene

mRNA/cDNA for AGPAT2 Gene

(2) REFSEQ mRNAs :

(7) Additional mRNA sequences :

(378) Selected AceView cDNA sequences:

(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AGPAT2 Gene

1-acylglycerol-3-phosphate O-acyltransferase 2:

Hs.320151

Representative Sequences:

NM_006412

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Inhibitory RNA Products

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Clone Products

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Alternative Splicing Database (ASD) splice patterns (SP) for AGPAT2 Gene

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b
SP1:					-
SP2:					-				-
SP3:

Relevant External Links for AGPAT2 Gene

GeneLoc Exon Structure for: AGPAT2
ECgene alternative splicing isoforms for: AGPAT2

Expression for AGPAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGPAT2 Gene

mRNA expression in normal human tissues for AGPAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Adipose (Muscoskeletal System)
- Subcutaneous White Adipocytes Subcutaneous White Adipose
- Visceral White Preadipocytes Visceral White Adipose
- Subcutaneous White Preadipocytes Cranial Subcutaneous White Adipose
- Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
- Subcutaneous White Adipocytes Facial Subcutaneous White Adipose
- Visceral White Adipocytes Visceral White Adipose
- Subcutaneous White Adipocytes Body Subcutaneous White Adipose
Kidney (Urinary System)
- Metanephros
Intestine (Gastrointestinal Tract)
- Duodenum

mRNA differential expression in normal tissues according to GTEx for AGPAT2 Gene

This gene is overexpressed in Liver (x7.0), Adipose - Visceral (Omentum) (x6.5), and Adipose - Subcutaneous (x5.5).

Protein differential expression in normal tissues from HIPED for AGPAT2 Gene

This gene is overexpressed in Bone (27.4), Adipocyte (16.8), and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AGPAT2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MaxQB, and MOPED for AGPAT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AGPAT2 Gene:

AGPAT2

SOURCE GeneReport for Unigene cluster for AGPAT2 Gene:

Hs.320151

mRNA Expression by UniProt/SwissProt for AGPAT2 Gene:

O15120-PLCB_HUMAN

Tissue specificity: Expressed predominantly in adipose tissue, pancreas and liver.

Evidence on tissue expression from TISSUES for AGPAT2 Gene

Skin(4.4)
Kidney(4.2)
Liver(2.4)
Muscle(2.2)
Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGPAT2 Gene

Germ Layers:

ectoderm
endoderm
mesoderm

Systems:

cardiovascular
digestive
endocrine
immune
integumentary
lymphatic
nervous
reproductive
respiratory
skeletal muscle
skeleton
urinary

Organs:

Head and neck:

brain
ear
eye
face
forehead
head
jaw
larynx
mandible
maxilla
mouth
neck
pituitary gland
salivary gland
skull
tooth

Thorax:

breast
chest wall
clavicle
diaphragm
esophagus
heart
heart valve
lung
rib
rib cage
scapula
sternum

Abdomen:

abdominal wall
duodenum
intestine
kidney
liver
pancreas
small intestine
spleen
stomach

Pelvis:

fallopian tube
ovary
pelvis
penis
prostate
testicle
uterus
vagina
vas deferens
vulva

Limb:

ankle
arm
digit
elbow
femur
fibula
finger
foot
forearm
hand
hip
humerus
knee
lower limb
nail
radius
shin
shoulder
thigh
tibia
toe
ulna
upper limb
wrist

General:

blood
blood vessel
coagulation system
hair
peripheral nerve
peripheral nervous system
skin
spinal column
sweat gland
vertebrae
white blood cell

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No data available for Protein tissue co-expression partners for AGPAT2 Gene

Orthologs for AGPAT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGPAT2 Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
chimpanzee (Pan troglodytes)	Mammalia	AGPAT2 ³³ ³⁴	97.6 (n)		748669 XM_001162511.3 XP_001162511.3 9:136278716-136283553
cow (Bos Taurus)	Mammalia	AGPAT2 ³³ ³⁴	83.57 (n)		512112 NM_001080264.1 NP_001073733.1 11:104134683-104146456
dog (Canis familiaris)	Mammalia	AGPAT2 ³³ ³⁴	82.78 (n)		491249 XM_548370.5 XP_548370.4 9:48864492-48877154
mouse (Mus musculus)	Mammalia	Agpat2 ³³ ¹⁶ ³⁴	80.58 (n)		67512 NM_026212.2 NP_080488.1 26593057 2:26593057-26604417
rat (Rattus norvegicus)	Mammalia	Agpat2 ³³	79.02 (n)		311821 NM_001107821.2 NP_001101291.1
oppossum (Monodelphis domestica)	Mammalia	AGPAT2 ³⁴	58 (a)	OneToOne	1:464842797-464864929
platypus (Ornithorhynchus anatinus)	Mammalia	AGPAT2 ³⁴	58 (a)	OneToOne	Ultra157:274928-288847
chicken (Gallus gallus)	Aves	AGPAT2 ³³ ³⁴	65.59 (n)		772114 XM_001235299.3 XP_001235300.2 17:7737254-7744146
lizard (Anolis carolinensis)	Reptilia	-- ³⁴	46 (a)	ManyToMany	6:71689481-71705555
		-- ³⁴	40 (a)	ManyToMany	2:189598257-189632608
		-- ³⁴	38 (a)	ManyToMany	2:190353846-190368687
tropical clawed frog (Silurana tropicalis)	Amphibia	agpat2 ³³	65.22 (n)		100170486 NM_001130269.1 NP_001123741.1
zebrafish (Danio rerio)	Actinopterygii	agpat2 ³⁴	47 (a)	OneToOne	11:38513117-38547338
fruit fly (Drosophila melanogaster)	Insecta	CG3812 ³⁵ ³⁴	41 (a)		X:12659299-12666884
fruit fly (Drosophila melanogaster)	Insecta	fu12 ³⁴	26 (a)	ManyToMany	2L:8449691-8463990
worm (Caenorhabditis elegans)	Secernentea	T06E8.1 ³⁵	34 (a)
		acl-1 ³⁴	30 (a)	ManyToMany	X:15849900-15851771
		acl-2 ³⁴	30 (a)	ManyToMany	V:10028147-10031094
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SLC1 ³⁴	23 (a)	OneToMany	IV:362672-363583

Species where no ortholog for AGPAT2 was found in the sources mined by GeneCards:

A. gosspyii yeast (Ashbya gossypii)
Actinobacteria (Mycobacterium tuberculosis)
African clawed frog (Xenopus laevis)
African malaria mosquito (Anopheles gambiae)
Alicante grape (Vitis vinifera)
alpha proteobacteria (Wolbachia pipientis)
amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
barley (Hordeum vulgare)
beta proteobacteria (Neisseria meningitidis)
bread mold (Neurospora crassa)
Chromalveolata (Phytophthora infestans)
common water flea (Daphnia pulex)
corn (Zea mays)
E. coli (Escherichia coli)
filamentous fungi (Aspergillus nidulans)
Firmicute bacteria (Streptococcus pneumoniae)
fission yeast (Schizosaccharomyces pombe)
green algae (Chlamydomonas reinhardtii)
honey bee (Apis mellifera)
K. lactis yeast (Kluyveromyces lactis)
loblloly pine (Pinus taeda)
malaria parasite (Plasmodium falciparum)
medicago trunc (Medicago Truncatula)
moss (Physcomitrella patens)
orangutan (Pongo pygmaeus)
pig (Sus scrofa)
rainbow trout (Oncorhynchus mykiss)
rice (Oryza sativa)
rice blast fungus (Magnaporthe grisea)
schistosome parasite (Schistosoma mansoni)
sea anemone (Nematostella vectensis)
sea squirt (Ciona intestinalis)
sea squirt (Ciona savignyi)
sea urchin (Strongylocentrotus purpuratus)
sorghum (Sorghum bicolor)
soybean (Glycine max)
stem rust fungus (Puccinia graminis)
sugarcane (Saccharum officinarum)
thale cress (Arabidopsis thaliana)
tomato (Lycopersicon esculentum)
toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)
wheat (Triticum aestivum)

Evolution for AGPAT2 Gene

ENSEMBL:: Gene Tree for AGPAT2 (if available)
TreeFam:: Gene Tree for AGPAT2 (if available)

Paralogs for AGPAT2 Gene

AGPAT1 ⁵

(1) SIMAP similar genes for AGPAT2 Gene using alignment to 3 proteins:

AGPAT1

Variants for AGPAT2 Gene

Sequence variations from dbSNP and Humsavar for AGPAT2 Gene

SNP ID	Clin	Chr 09 pos	Variation	Type
rs1012752030	uncertain-significance, Berardinelli-Seip congenital lipodystrophy	136,687,418(-)	C/A/G	5_prime_UTR_variant
rs10320	benign, Berardinelli-Seip congenital lipodystrophy	136,673,235(-)	G/A	3_prime_UTR_variant
rs1045877433	uncertain-significance, Berardinelli-Seip congenital lipodystrophy	136,673,238(-)	T/G	3_prime_UTR_variant
rs104894093	pathogenic, Congenital generalized lipodystrophy type 1	136,677,537(-)	G/A	coding_sequence_variant, stop_gained
rs104894100	pathogenic, Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]	136,673,906(-)	A/G	coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for AGPAT2 Gene

Variant ID	Type	Subtype	PubMed ID
dgv13005n54	CNV	loss	21841781
dgv13006n54	CNV	loss	21841781
dgv955n27	CNV	loss	19166990
dgv957n27	CNV	loss	19166990
esv2422220	CNV	deletion	17116639
esv2739381	CNV	deletion	23290073
esv2739382	CNV	deletion	23290073
esv2759720	CNV	loss	17122850
esv32979	CNV	gain	17666407
esv3545642	CNV	deletion	23714750
nsv1053781	CNV	gain	25217958
nsv1075695	CNV	deletion	25765185
nsv1144303	CNV	deletion	24896259
nsv469918	CNV	loss	18288195
nsv509334	CNV	insertion	20534489
nsv8579	CNV	gain	18304495
nsv951203	CNV	deletion	24416366

Variation tolerance for AGPAT2 Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 4.33; 63.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGPAT2 Gene

Human Gene Mutation Database (HGMD): AGPAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for: AGPAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGPAT2 Gene

Disorders for AGPAT2 Gene

(8) MalaCards diseases for AGPAT2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder	Aliases	PubMed IDs
lipodystrophy, congenital generalized, type 1	cgl1	11967537
congenital generalized lipodystrophy	beradinelli-seip syndrome	19226263
lipodystrophy		20097706
berardinelli-seip congenital lipodystrophy	berardinelli-seip congenital generalized lipodystrophy
spastic paraplegia 17, autosomal dominant	spg17

- elite association - COSMIC cancer census association via MalaCards

Search AGPAT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLCB_HUMAN

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. {ECO:0000269 PubMed:11967537, ECO:0000269 PubMed:15629135}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AGPAT2

Human Genome Epidemiology Navigator: (HuGE)
: ATLAS of Genetics and Cytogenetics in Oncology and Haematology

Search disorders for AGPAT2 gene in PubMed and other databases

No data available for Genatlas for AGPAT2 Gene

Publications for AGPAT2 Gene

Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. (PMID: 9212163) West J … Leung DW (DNA and cell biology 1997) ² ³ ⁴ ²² ⁵⁸
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (PMID: 15629135) Haque W … Agarwal AK (Biochemical and biophysical research communications 2005) ³ ⁴ ²² ⁵⁸
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PMID: 11967537) Agarwal AK … Garg A (Nature genetics 2002) ³ ⁴ ²² ⁵⁸
Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3. (PMID: 9242711) Eberhardt C … Tjoelker LW (The Journal of biological chemistry 1997) ² ³ ⁴ ⁵⁸
Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice. (PMID: 21873652) Agarwal AK … Garg A (The Journal of biological chemistry 2011) ³ ⁴ ⁵⁸