SOAT2 - sterol O-acyltransferase 2 Gene

Homo sapiens

Also known as ACAT2; ARGP2; ACACT2

Gene ID: 8435 | Gene type: protein coding

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	Reference	Source
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	Reference	Source
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	Reference	Source
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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SOAT2	O75908	TMBIM6	Homo sapiens	P55061	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SOAT2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71041	ACAT2 Protein, Human (Trx-His)	Q9BWD1 (M1-E397)	≥95%

Related Diseases

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-117832	Pyripyropene A	Inhibitor	99.71%	Unkown
HY-RS13550	SOAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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