2. Gene
  3. SOAT2 - sterol O-acyltransferase 2 Gene

SOAT2 - sterol O-acyltransferase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：甾醇 O-酰基转移酶 2

种属: Homo sapiens

同用名: ACAT2; ARGP2; ACACT2

基因 ID: 8435 | 基因类型: protein coding

关于 SOAT2

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,103,486-53,124,535 (from NCBI)

This gene has 3 transcripts (splice variants), 183 orthologues and 2 paralogues. Biased expression in small intestine (RPKM 4.5), duodenum (RPKM 2.6) and 2 other tissues.

功能概要

摘要：该基因是酰基辅酶 A：胆固醇酰基转移酶家族的成员。该基因编码一种位于内质网中的膜结合酶，该酶从长链脂肪酰辅酶 A 和胆固醇中产生细胞内胆固醇酯。然后，胆固醇酯以细胞质脂滴的形式储存在细胞内。该酶与肠道中胆固醇的吸收以及含载脂蛋白 B 的脂蛋白 (例如极低密度脂蛋白 (VLDL) ) 的组装和分泌有关。已经描述了该基因的几种可变剪接的转录物变体，但它们的全长性质尚不清楚。[RefSeq 提供，2008 年 7 月]

Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound Enzyme localized in the endoplasmic reticulum that produces intracellular Cholesterol esters from long-chain fatty acyl CoA and Cholesterol. The Cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The Enzyme is implicated in Cholesterol absorption in the intestine and in the assembly and secretion of Apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]

SOAT2 基因产物(1)

mRNA Protein Name
NM_003578.4 NP_003569.1 sterol O-acyltransferase 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cholesterol O-acyltransferase activity IDA
IDA: 通过直接分析推断
16647063 GOA
enables cholesterol binding IDA
IDA: 通过直接分析推断
16647063 GOA
enables fatty-acyl-CoA binding IDA
IDA: 通过直接分析推断
16647063 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sterol O-acyltransferase activity IDA
IDA: 通过直接分析推断
11294643 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol efflux IMP
IMP: 通过突变表型推断
15308631 GOA
involved in cholesterol metabolic process IDA
IDA: 通过直接分析推断
11294643 GOA
involved in very-low-density lipoprotein particle assembly IMP
IMP: 通过突变表型推断
15308631 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in brush border IDA
IDA: 通过直接分析推断
14615411 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15451793 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
12808042 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SOAT2 蛋白结构

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (160 - 494)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 522 a.a.
蛋白主名 其他名称

sterol O-acyltransferase 2

ACAT-2

SOAT2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SOAT2 O75908 TMBIM6 Homo sapiens P55061
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SOAT2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71041 ACAT2 Protein, Human (Trx-His) Q9BWD1 (M1-E397) ≥95%

关联疾病

疾病名称 别名
Lysosomal And Lipase Deficiency
Lysosomal Acid Lipase Deficiency

Wolman Disease

Cholesteryl Ester Storage Disease

Lal Deficiency

Lipa Deficiency

Cholesterol Ester Storage Disease

CESD

Cholesterol Ester Hydrolase Deficiency

Acid Lipase Deficiency

Acid Esterase Deficiency

Familial Xanthomatosis

Wolman Xanthomatosis

Wolman'S Disease

Wolman'S Or Triglyceride Storage Type Iii Disease

Xanthomatosis, Familial

Liposomal Acid Lipase Deficiency, Wolman Type

Familial Visceral Xanthomatosis

Primary Familial Xanthomatosis

Primary Familial Xanthomatosis With Adrenal Calcification

Acid Lipase Disease

WOD

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Sitosterolemia

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis
Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism
Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-117832 Pyripyropene A Inhibitor 99.71% 否
HY-RS13550 SOAT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SOAT2 VGNC VGNC:35117
Rattus norvegicus SOAT2 RGD RGD:628865
Macaca mulatta SOAT2 VGNC VGNC:77686
Canis familiaris SOAT2 VGNC VGNC:46647
Felis catus SOAT2 VGNC VGNC:65562
Mus musculus SOAT2 MGD MGI:1332226
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