AGPAT2 - 1-acylglycerol-3-phosphate O-acyltransferase 2 Gene

Also Known as BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10555

About AGPAT2

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,673,143-136,687,457 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in fat (RPKM 221.4), small intestine (RPKM 55.9) and 8 other tissues.

Summary

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]

AGPAT2 Products (2)

mRNA	Protein	Name
NM_001012727.2	NP_001012745.1	1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b precursor
NM_006412.4	NP_006403.2	1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA IDA: Inferred from direct assay	9212163	GOA
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IMP IMP: Inferred from mutant phenotype	15629135	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidic acid biosynthetic process	IGI IGI: Inferred from genetic interaction	9212163	GOA
involved in positive regulation of cytokine production	IMP IMP: Inferred from mutant phenotype	9212163	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21873652	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AGPAT2 Protein Structure

Acyltransferase

0
100
200
278 a.a.

Protein Preferred Names	Protein Names
1-acyl-sn-glycerol-3-phosphate acyltransferase beta	1-AGP acyltransferase 2

Related Diseases

Diseases	Alias
Lipodystrophy, Congenital Generalized, Type 1	Congenital Generalized Lipodystrophy Type 1 Bscl1 CGL1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell Syndrome Agpat2-Related Berardinelli-Seip Congenital Lipodystrophy Type 1 Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Brunzell Syndrome, Agpat2-Related Agpat2-Related Brunzell Syndrome Congenital Generalized Lipodystrophy 1 Berardinelli-Seip Syndrome Lipoatrophic Diabetes Lipodystrophy Berardinelli Type Total Lipodystrophy And Acromegaloid Gigantism Lipodystrophy, Generalized, Congenital, Type 1 Familial Generalized Lipodystrophy Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Berardinelli-Seip Congenital Lipodystrophy	Berardinelli-Seip Congenital Generalized Lipodystrophy Familial Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 2	FPLD2 Lipoatrophic Diabetes Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy, Dunnigan Type Fpl2 Lipoatrophic Diabetes Mellitus Lipodystrophy, Familial Partial, Dunnigan Type Lipodystrophy, Familial, Of Limbs And Lower Trunk Lipodystrophy, Reverse Partial Familial Partial Lipodystrophy Dunnigan Type Dunnigan Syndrome Familial Lipodystrophy Of Limbs And Lower Trunk Reverse Partial Lipodystrophy Lipodystrophy, Familial Partial, 2 Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Lipodystrophy Familial Of Limbs And Lower Trunk Lipodystrophy Reverse Partial Diabetes Mellitus, Lipoatrophic Familial Partial Lipodystrophy, Type 2 Familial Generalized Lipodystrophy
Complete Generalized Lipodystrophy
Familial Partial Lipodystrophy	Lipodystrophy, Familial Partial Fpld Kobberling-Dunnigan Syndrome Dunnigan Syndrome Koberling-Dunnigan Syndrome Dunnigan-Kobberling Syndrome Fpl Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Congenital Generalized, Type 2	Congenital Generalized Lipodystrophy Type 2 CGL2 Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli-Seip Syndrome Brunzell Syndrome Bscl2-Related Total Lipodystrophy And Acromegaloid Gigantism Berardinelli-Seip Congenital Lipodystrophy, Type 2 Seip Syndrome Berardinelli Syndrome Lipodystrophy, Total, And Acromegaloid Gigantism Lipoatrophic Diabetes, Congenital Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Brunzell Syndrome, Bscl2-Related Congenital Lipoatrophic Diabetes Congenital Generalized Lipodystrophy 2 Lipoatrophic Diabetes Lipodystrophy Berardinelli Type Familial Generalized Lipodystrophy Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Mdp Syndrome Mandibular Hypoplasia-Deafness-Progeroid Syndrome MDPL Mdpl Syndrome Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome Lipodystrophy Mandibular Hypoplasia, Deafness, Progeroid Features Hypoplasia, Mandibular, Deafness, Progeroid Features, And Lipodystrophy Syndrome Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Congenital Generalized, Type 3	Congenital Generalized Lipodystrophy Type 3 CGL3 Bscl3 Berardinelli-Seip Congenital Lipodystrophy Type 3 Berardinelli-Seip Congenital Lipodystrophy, Type 3 Lipodystrophy, Berardinelli-Seip Congenital, Type 3 Type 3 Berardinelli-Seip Congenital Lipodystrophy Congenital Generalized Lipodystrophy 3
Lipodystrophy, Congenital Generalized, Type 4	Congenital Generalized Lipodystrophy Type 4 CGL4 Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy Generalized Congenital Lipodystrophy With Myopathy Congenital Generalised Lipodystrophy Type 4 Generalised Congenital Lipodystrophy Type 4 Generalised Congenital Lipodystrophy With Myopathy Generalized Congenital Lipodystrophy Type 4 Gcl4 Congenital Generalized Lipodystrophy 4 Berardinelli-Seip Congenital Lipodystrophy Type 4
Acquired Generalized Lipodystrophy	Lawrence Syndrome Acquired Lipoatrophic Diabetes Lawrence-Seip Syndrome Familial Generalized Lipodystrophy
Adiposis Dolorosa	Dercum Disease Dercum'S Disease Lipomatosis Dolorosa Adiposalgia Adipose Tissue Rheumatism Anders Syndrome Dercum-Vitaut Syndrome Morbus Dercum
Lipodystrophy, Familial Partial, Type 3	FPLD3 Pparg-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 3 Familial Partial Lipodystrophy Associated With Pparg Mutations Pparg-Related Fpld Lipodystrophy, Familial Partial, Associated With Pparg Mutations Insulin Resistance, Severe, Digenic Lipodystrophy, Familial Partial, 3 Familial Partial Lipodystrophy, Type 3
Donohue Syndrome	Leprechaunism Leprechaunism Syndrome Donohue'S Syndrome LEPRCH
Lipodystrophy, Familial Partial, Type 4	FPLD4 Plin1-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 4 Familial Partial Lipodystrophy Associated With Plin1 Mutations Plin1-Related Fpld Lipodystrophy, Familial Partial, Associated With Plin1 Mutations Lipodystrophy, Familial Partial, 4
Lipodystrophy, Familial Partial, Type 5	FPLD5 Cidec-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 5 Cidec-Related Fpld Familial Partial Lipodystrophy Associated With Cidec Mutations Lipodystrophy, Familial Partial, Associated With Cidec Mutations Lipodystrophy, Familial Partial, 5
Lipodystrophy, Familial Partial, Type 1	FPLD1 Familial Partial Lipodystrophy Type 1 Familial Partial Lipodystrophy, Kobberling Type Lipodystrophy, Familial Partial, Kobberling Type Familial Partial Lipodystrophy Kobberling Type Familial Partial Lipodystrophy Type Köbberling Familial Partial Lipodystrophy, Köbberling Type Familial Partial Lipodystrophy, Type 1
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Fetal Akinesia Deformation Sequence 4	FADS4 Fetal Akinesia Deformation Sequence Syndrome 4 Akinesia, Fetal, Deformation Sequence, Type 4
Umbilical Hernia	Hernia, Umbilical
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00457	AGPAT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21818	Agpat2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28334	Agpat2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AGPAT2	VGNC	VGNC:37711
Macaca mulatta	AGPAT2	VGNC	VGNC:69746
Mus musculus	AGPAT2	MGD	MGI:1914762
Rattus norvegicus	AGPAT2	RGD	RGD:1309229
Bos taurus	AGPAT2	VGNC	VGNC:25735
Felis catus	AGPAT2	VGNC	VGNC:59685
Others	AGPAT2	NCBI