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

Gene ID: 8435, updated on 8-May-2016
Official Symbol
SOAT2provided by HGNC
Official Full Name
sterol O-acyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:11178
See related
Ensembl:ENSG00000167780 HPRD:03202; MIM:601311; Vega:OTTHUMG00000169774
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 (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]
Orthologs
Location:
12q13.13
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (53102504..53124539)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53497274..53518323)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tensin 2 Neighboring gene SPRY domain containing 3 Neighboring gene insulin like growth factor binding protein 6 Neighboring gene uncharacterized LOC105369773 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 3 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC116732

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol O-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
fatty-acyl-CoA binding IDA
Inferred from Direct Assay
more info
PubMed 
transferase activity, transferring acyl groups TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis TAS
Traceable Author Statement
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
intestinal cholesterol absorption IC
Inferred by Curator
more info
PubMed 
macrophage derived foam cell differentiation TAS
Traceable Author Statement
more info
PubMed 
very-low-density lipoprotein particle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
brush border IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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
acyl-coenzyme A:cholesterol acyltransferase 2
cholesterol acyltransferase 2
NP_003569.1

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_003578.3NP_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
    O75908
    Related
    ENSP00000301466, OTTHUMP00000242062, ENST00000301466, OTTHUMT00000405817
    Conserved Domains (1) summary
    pfam03062
    Location:210494
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    53102504..53124539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538851.1XP_011537153.1  

  2. XM_011538849.1XP_011537151.1  

    Conserved Domains (1) summary
    pfam03062
    Location:190474
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. XM_011538850.1XP_011537152.1  

    Conserved Domains (1) summary
    pfam03062
    Location:154438
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RNA

  1. XR_944777.1 RNA Sequence

  2. XR_944778.1 RNA Sequence

  3. XR_944775.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    53463699..53484782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)