SOAT2 - sterol O-acyltransferase 2 Gene

Also Known as ACAT2; ARGP2; ACACT2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 8435

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_003578.4 NP_003569.1 sterol O-acyltransferase 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables cholesterol O-acyltransferase activity IDA
IDA: Inferred from direct assay
16647063 GOA
enables cholesterol binding IDA
IDA: Inferred from direct assay
16647063 GOA
enables fatty-acyl-CoA binding IDA
IDA: Inferred from direct assay
16647063 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sterol O-acyltransferase activity IDA
IDA: Inferred from direct assay
11294643 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in cholesterol efflux IMP
IMP: Inferred from mutant phenotype
15308631 GOA
involved in cholesterol metabolic process IDA
IDA: Inferred from direct assay
11294643 GOA
involved in very-low-density lipoprotein particle assembly IMP
IMP: Inferred from mutant phenotype
15308631 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in brush border IDA
IDA: Inferred from direct assay
14615411 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
15451793 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
12808042 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

SOAT2 Protein Structure

MBOAT

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 522 a.a.
Protein Preferred Names Protein Names

sterol O-acyltransferase 2

  • ACAT-2

SOAT2 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SOAT2 O75908 TMBIM6 Homo sapiens P55061
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SOAT2 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P71041 ACAT2 Protein, Human (Trx-His) Q9BWD1 (M1-E397) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
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
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 (4)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-117832 Pyripyropene A Inhibitor 99.37% Unkown
HY-RS13550 SOAT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19037 Soat2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25526 Soat2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others SOAT2 NCBI