SOAT2 (sterol O-acyltransferase 2)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8435
• Gene name: Sterol O-acyltransferase 2
• Gene symbol: SOAT2
• Synonyms (NCBI Gene): ACACT2, ACAT2, ARGP2
• Chromosome: 12
• Chromosome location: 12q13.13
• 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

miRNA Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018756	hsa-miR-335-5p	Microarray	18185580
MIRT495529	hsa-miR-377-5p	PAR-CLIP	22291592
MIRT495528	hsa-miR-6086	PAR-CLIP	22291592
MIRT495529	hsa-miR-377-5p	PAR-CLIP	22291592
MIRT495528	hsa-miR-6086	PAR-CLIP	22291592
MIRT2112915	hsa-miR-3620	CLIP-seq
MIRT2112916	hsa-miR-383	CLIP-seq
MIRT2112917	hsa-miR-4663	CLIP-seq
MIRT2112918	hsa-miR-4677-3p	CLIP-seq
MIRT2112919	hsa-miR-4679	CLIP-seq
MIRT2112920	hsa-miR-4709-3p	CLIP-seq
MIRT2112921	hsa-miR-4728-3p	CLIP-seq
MIRT2112922	hsa-miR-4772-5p	CLIP-seq
MIRT2112923	hsa-miR-935	CLIP-seq
MIRT2335831	hsa-miR-520d-5p	CLIP-seq
MIRT2335832	hsa-miR-524-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IBA
GO:0000062	Function	Fatty-acyl-CoA binding	IDA	16647063
GO:0004772	Function	Sterol O-acyltransferase activity	IDA	11294643
GO:0004772	Function	Sterol O-acyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	15451793
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12808042
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005903	Component	Brush border	IDA	14615411
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IDA	11294643, 16647063
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0010742	Process	Macrophage derived foam cell differentiation	TAS	14615411
GO:0010878	Process	Cholesterol storage	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	16647063
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016746	Function	Acyltransferase activity	TAS	9756920
GO:0030299	Process	Intestinal cholesterol absorption	IC	14615411
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IMP	15308631
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IMP	15308631
GO:0034383	Process	Low-density lipoprotein particle clearance	TAS
GO:0034736	Function	Cholesterol O-acyltransferase activity	IBA
GO:0034736	Function	Cholesterol O-acyltransferase activity	IDA	16647063
GO:0034736	Function	Cholesterol O-acyltransferase activity	IEA
GO:0034736	Function	Cholesterol O-acyltransferase activity	TAS
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	TAS	11401500

Other IDs

• MIM: 601311
• HGNC: 11178
• e!Ensembl: ENSG00000167780

Protein

• UniProt ID: O75908
• Protein name: Sterol O-acyltransferase 2 (EC 2.3.1.26) (Acyl-coenzyme A:cholesterol acyltransferase 2) (ACAT-2) (Cholesterol acyltransferase 2)
• Protein function: Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol (PubMed:11294643, PubMed:16647063). Plays a role in lipoprotein assembly and dietary cholesterol absorption (PubMed:11294643). Utilize
• PDB: 7N6Q , 7N6R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03062	MBOAT	149 → 494	MBOAT, membrane-bound O-acyltransferase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expression seems confined in hepatocytes and enterocytes. {ECO:0000269|PubMed:16331323}.
• Sequence:

  MEPGGARLRLQRTEGLGGERERQPCGDGNTETHRAPDLVQWTRHMEAVKAQLLEQAQGQL
  RELLDRAMREAIQSYPSQDKPLPPPPPGSLSRTQEPSLGKQKVFIIRKSLLDELMEVQHF
  RTIYHMFIAGLCVFIISTLAIDFIDEGRLLLEFDLLIFSFGQLPLALVTWVPMFLSTLLA
  PYQALRLWARGTWTQATGLGCALLAAHAVVLCALPVHVAVEHQLPPASRCVLVFEQVRFL
  MKSYSFLREAVPGTLRARRGEGIQAPSFSSYLYFLFCPTLIYRETYPRTPYVRWNYVAKN
  FAQALGCVLYACFILGRLCVPVFANMSREPFSTRALVLSILHATLPGIFMLLLIFFAFLH
  CWLNAFAEMLRFGDRMFYRDWWNSTSFSNYYRTWNVVVHDWLYSYVYQDGLRLLGARARG
  VAMLGVFLVSAVAHEYIFCFVLGFFYPVMLILFLVIGGMLNFMMHDQRTGPAWNVLMWTM
  LFLGQGIQVSLYCQEWYARRHCPLPQATFWGLVTPRSWSCHT

• Sequence length: 522

Pathways

KEGG Pathway	Reactome Pathway
Steroid biosynthesis	LDL clearance
Cholesterol metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	30097691	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (55)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acid cholesteryl ester hydrolase deficiency, type 2	Wolman disease	BEFREE	29246491		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18339850, 24960290		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29097185		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29500423		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	36750547	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16195894, 30630736		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16195894, 30630736		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19467657, 22243772	Associate	★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	1346617	Associate	★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	1346617	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28770546		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36694223	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16274362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	38178203	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26715271	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34513998	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26729489		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholecystolithiasis	Cholecystolithiasis	BEFREE	19071091		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	19071091, 19467657		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	19071091		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19282863, 19578796, 31828139		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15831806, 16195894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	15831806, 16195894, 30696703		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30696703	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	19467657	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15831806, 16195894, 19467657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytosolic acetoacetyl-CoA thiolase deficiency	Cytosolic Acetoacetyl-CoA Thiolase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Deficiency of acetyl-CoA acetyltransferase	Deficiency Of Acetyl-CoA Acetyltransferase	BEFREE	7749408		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	36750547	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	11325614, 29323466		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30630736		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	15831806, 16195894, 30937311		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	12621162		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	12621162	Associate	★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	17919884	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	11283790	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15961790, 16274362		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16274362		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16274362		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19017733	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28770546		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	1346617	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26513060		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19467657	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28770546		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39884015	Associate	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	36750547	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18000807		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18269457		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	32478482	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29323466, 30630736		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21987487		★☆☆☆☆ Found in Text Mining only
Wolman Disease	Wolman Disease	BEFREE	25450374, 29246491		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SOAT1 3 shared pathwaysSteroid biosynthesis, Cholesterol metabolism, LDL clearance Related via 3 shared pathways including Steroid biosynthesis, Cholesterol metabolism. HECTD4 2 shared diseasesCeliac disease, Ischemic heart disease 2 shared evidence sourcesDisgenet (Ischemic heart disease), Disgenet (Coronary artery disease) Related via 2 shared diseases including Celiac disease, Ischemic heart disease — evidence mostly Disgenet. MMP12 2 shared diseasesCeliac disease, Ischemic heart disease 4 shared evidence sourcesCTD (Celiac disease), Disgenet (Celiac disease), Disgenet (Ischemic heart disease), Disgenet (Coronary artery disease) Related via 2 shared diseases including Celiac disease, Ischemic heart disease — evidence mostly Disgenet. ARHGAP31 2 shared diseasesCeliac disease, Ischemic heart disease 2 shared evidence sourcesDisgenet (Ischemic heart disease), Disgenet (Coronary artery disease) Related via 2 shared diseases including Celiac disease, Ischemic heart disease — evidence mostly Disgenet. GBP5 1 shared diseaseCeliac disease 2 shared evidence sourcesCTD (Celiac disease), Disgenet (Celiac disease) Related via 1 shared disease including Celiac disease — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SOAT1	0	[]	3	["Steroid biosynthesis","Cholesterol metabolism","LDL clearance"]	0	[]
HECTD4	2	["Celiac disease","Ischemic heart disease"]	0	[]	2	["Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)"]
MMP12	2	["Celiac disease","Ischemic heart disease"]	0	[]	4	["CTD (Celiac disease)","Disgenet (Celiac disease)","Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)"]
ARHGAP31	2	["Celiac disease","Ischemic heart disease"]	0	[]	2	["Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)"]
GBP5	1	["Celiac disease"]	0	[]	2	["CTD (Celiac disease)","Disgenet (Celiac disease)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 3 of 5 related genesSOAT1, HECTD4, GBP5 Schizophrenia Linked via 2 of 5 related genesSOAT1, ARHGAP31 Hypertension Linked via 2 of 5 related genesHECTD4, ARHGAP31 Neurodevelopmental disorder Linked via 2 of 5 related genesHECTD4, GBP5 Rheumatoid arthritis Linked via 2 of 5 related genesHECTD4, MMP12

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	3	["SOAT1","HECTD4","GBP5"]
Schizophrenia	2	["SOAT1","ARHGAP31"]
Hypertension	2	["HECTD4","ARHGAP31"]
Neurodevelopmental disorder	2	["HECTD4","GBP5"]
Rheumatoid arthritis	2	["HECTD4","MMP12"]