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

Gene ID: 8435, updated on 27-Nov-2024

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
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Genomic context

See SOAT2 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene tensin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53459723-53460224 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr12:53465666-53466166 and GRCh37_chr12:53466167-53466667 Neighboring gene SPRY domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4494 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53493256-53493471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53496852-53497380 Neighboring gene insulin like growth factor binding protein 6 Neighboring gene uncharacterized LOC124902936 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 3 Neighboring gene RNA, U6 small nuclear 333, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC116732

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 
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

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
XP_047285627.1
XP_047285628.1
XP_047285629.1
XP_047285630.1
XP_047285631.1
XP_054229459.1
XP_054229460.1
XP_054229461.1
XP_054229462.1
XP_054229463.1

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.

mRNA and Protein(s)

  1. NM_003578.4NP_003569.1  sterol O-acyltransferase 2

    See identical proteins and their annotated locations for NP_003569.1

    Status: REVIEWED

    Source sequence(s)
    AC073573, AF059203
    Consensus CDS
    CCDS8847.1
    UniProtKB/Swiss-Prot
    F5H7W4, I6L9H9, O75908, Q4VB99, Q4VBA1, Q96TD4, Q9UNR2
    Related
    ENSP00000301466.3, ENST00000301466.8
    Conserved Domains (1) summary
    pfam03062
    Location:149494
    MBOAT; membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    53103486..53124535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429672.1XP_047285628.1  sterol O-acyltransferase 2 isoform X2

  2. XM_047429673.1XP_047285629.1  sterol O-acyltransferase 2 isoform X3

  3. XM_047429671.1XP_047285627.1  sterol O-acyltransferase 2 isoform X1

  4. XM_047429674.1XP_047285630.1  sterol O-acyltransferase 2 isoform X4

  5. XM_047429675.1XP_047285631.1  sterol O-acyltransferase 2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53067863..53088913
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373485.1XP_054229460.1  sterol O-acyltransferase 2 isoform X2

  2. XM_054373486.1XP_054229461.1  sterol O-acyltransferase 2 isoform X3

  3. XM_054373484.1XP_054229459.1  sterol O-acyltransferase 2 isoform X1

  4. XM_054373487.1XP_054229462.1  sterol O-acyltransferase 2 isoform X4

  5. XM_054373488.1XP_054229463.1  sterol O-acyltransferase 2 isoform X5