SOAT2 sterol O-acyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOAT2provided by HGNC
Official Full Name: sterol O-acyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:11178
See related: Ensembl:ENSG00000167780 MIM:601311; AllianceGenome:HGNC:11178
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACAT2; ARGP2; ACACT2
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]
Annotation information: Note: ACAT2 (Gene ID: 39) and SOAT2 (Gene ID: 8435) share the ACAT2 symbol/alias in common. ACAT2 is a widely used alternative name for sterol O-acyltransferase 2 (SOAT2), which can be confused with acetyl-CoA acetyltransferase 2 (ACAT2). [20 Jun 2018]; Note: ACAT2 (GeneID 39) and SOAT2 (GeneID 8435) loci share the ACAT2 symbol/alias in common. ACAT2 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 2 (SOAT2) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) (ACAT2). [13 Feb 2013]
Expression: Biased expression in small intestine (RPKM 4.5), duodenum (RPKM 2.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53103486..53124535)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53067863..53088913)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53497270..53518319)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ACAT2 may be a novel predictive biomarker and therapeutic target in lung adenocarcinoma.
Title: ACAT2 may be a novel predictive biomarker and therapeutic target in lung adenocarcinoma.
Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.
Title: Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.
Sterol O-acyltransferase 2 chaperoned by apolipoprotein J facilitates hepatic lipid accumulation following viral and nutrient stresses.
Title: Sterol O-acyltransferase 2 chaperoned by apolipoprotein J facilitates hepatic lipid accumulation following viral and nutrient stresses.
Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese.
Title: Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese.
Single nucleotide polymorphisms Rs28765985 of ACAT-2 (SOAT2) gene are associated with increased susceptibility to coronary artery disease in Uygur population in Xinjiang, China.
Title: Acyl-CoA: cholesterol acyltransferases-2 gene polymorphism is associated with increased susceptibility to coronary artery disease in Uygur population in Xinjiang, China.
Describe a gender-related difference in hepatic ACAT2 activity in normolipidemic non-obese Chinese patients suggesting a possible role for ACAT2 in the regulation of cholesterol metabolism in humans.
Title: ACAT2 and human hepatic cholesterol metabolism: identification of important gender-related differences in normolipidemic, non-obese Chinese patients.
ACAT-2 expression was negative in clear cell type renal cell carcinoma and normal kidney.
Title: Expression of two isozymes of acyl-coenzyme A: cholesterol acyltransferase-1 and -2 in clear cell type renal cell carcinoma.
ACAT2 expression was induced upon R1881 (androgen agonist) treatment in prostate cancer cells
Title: Androgen-mediated cholesterol metabolism in LNCaP and PC-3 cell lines is regulated through two different isoforms of acyl-coenzyme A:Cholesterol Acyltransferase (ACAT).
HNF4alpha positively regulates ACAT2 gene expression at mRNA level. Overexpression of HNF4alpha increased ACAT2 expression, whereas knockdown of HNF4alpha decreased ACAT2 expression.
Title: Two novel cis-elements involved in hepatocyte nuclear factor 4α regulation of acyl-coenzyme A:cholesterol acyltransferase 2 expression.
results show that the enzymatic activity of mutant Glu(14)Gly is approximately two times higher than wildtype, and that this increase is primarily due to the increased expression and/or stability of the mutant ACAT2 protein
Title: Functional characterization of two single nucleotide polymorphisms of acyl-coenzyme A:cholesterol acyltransferase 2.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11660 (e-PCR)
- UniSTS:1578

D12S2110 (e-PCR)
- UniSTS:81333

STS-W84340 (e-PCR)
- UniSTS:72132

G64238 (e-PCR)
- UniSTS:166643

NoName (e-PCR)
- UniSTS:480503

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables cholesterol O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol O-acyltransferase activity	TAS Traceable Author Statement more info
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables fatty-acyl-CoA binding	IBA Inferred from Biological aspect of Ancestor more info
enables fatty-acyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sterol O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol storage	IEA Inferred from Electronic Annotation more info
involved_in intestinal cholesterol absorption	IC Inferred by Curator more info	PubMed
involved_in low-density lipoprotein particle clearance	TAS Traceable Author Statement more info
involved_in macrophage derived foam cell differentiation	TAS Traceable Author Statement more info	PubMed
involved_in very-low-density lipoprotein particle assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sterol O-acyltransferase 2

Names: ACAT-2; acyl Co-A: cholesterol acyltransferase 2; acyl coenzyme A:cholesterol acyltransferase 2; acyl-CoA:cholesterol acyltransferase 2; cholesterol acyltransferase 2

NP_003569.1

EC 2.3.1.26

XP_047285627.1

EC 2.3.1.26

XP_047285628.1

EC 2.3.1.26

XP_047285629.1

EC 2.3.1.26

XP_047285630.1

EC 2.3.1.26

XP_047285631.1

EC 2.3.1.26

XP_054229459.1

EC 2.3.1.26

XP_054229460.1

EC 2.3.1.26

XP_054229461.1

EC 2.3.1.26

XP_054229462.1

EC 2.3.1.26

XP_054229463.1

EC 2.3.1.26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.