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

Homo sapiens

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

Gene ID: 10555 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00457	AGPAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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