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

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

中文名称:1-酰基甘油-3-磷酸 O-酰基转移酶 2

种属: Homo sapiens

同用名: BSCL; BSCL1; LPAAB; LPLAT2; 1-AGPAT2; LPAAT-beta

基因 ID: 10555 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 1-acylglycerol-3-phosphate O-acyltransferase 家族的成员。该蛋白质位于内质网膜内,将溶血磷脂酸转化为磷脂酸,这是磷脂从头生物合成的第二步。该基因的突变与先天性全身性脂肪营养不良 (CGL) 或 Berardinelli-Seip 综合征有关,这种疾病的特征是几乎没有脂肪组织和严重的胰岛素抵抗。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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

AGPAT2 蛋白结构

Acyltransferase

Acyltransferase: Acyltransferase (78 - 205)

  • 0
  • 100
  • 200
  • 278 a.a.
蛋白主名 其他名称

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

1-AGP acyltransferase 2

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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