Human Gene SOAT2 (ENST00000301466.8) from GENCODE V44
  Description: Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA. (from RefSeq NM_003578)
RefSeq Summary (NM_003578): 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].
Gencode Transcript: ENST00000301466.8
Gencode Gene: ENSG00000167780.12
Transcript (Including UTRs)
   Position: hg38 chr12:53,103,486-53,124,535 Size: 21,050 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr12:53,103,578-53,124,123 Size: 20,546 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:53,103,486-53,124,535)mRNA (may differ from genome)Protein (522 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOAT2_HUMAN
DESCRIPTION: RecName: Full=Sterol O-acyltransferase 2; EC=2.3.1.26; AltName: Full=Acyl-coenzyme A:cholesterol acyltransferase 2; Short=ACAT-2; AltName: Full=Cholesterol acyltransferase 2;
FUNCTION: Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa.
CATALYTIC ACTIVITY: Acyl-CoA + cholesterol = CoA + cholesterol ester.
SUBUNIT: May form homo- or heterodimers (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SOAT2
Diseases sorted by gene-association score: wolman disease (9), alcoholic cardiomyopathy (6), ichthyosis bullosa of siemens (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.52 RPKM in Small Intestine - Terminal Ileum
Total median expression: 18.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.5092-0.342 Picture PostScript Text
3' UTR -125.00412-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004299 - MBOAT_fam
IPR014371 - Oat_ACAT_DAG_ARE

Pfam Domains:
PF03062 - MBOAT, membrane-bound O-acyltransferase family

ModBase Predicted Comparative 3D Structure on O75908
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000062 fatty-acyl-CoA binding
GO:0004772 sterol O-acyltransferase activity
GO:0008374 O-acyltransferase activity
GO:0015485 cholesterol binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0034736 cholesterol O-acyltransferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0010742 macrophage derived foam cell differentiation
GO:0030299 intestinal cholesterol absorption
GO:0033344 cholesterol efflux
GO:0034379 very-low-density lipoprotein particle assembly
GO:0034383 low-density lipoprotein particle clearance
GO:0034435 cholesterol esterification
GO:0042632 cholesterol homeostasis

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005903 brush border
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC096090 - Homo sapiens sterol O-acyltransferase 2, mRNA (cDNA clone MGC:116730 IMAGE:40000865), complete cds.
BC096091 - Homo sapiens sterol O-acyltransferase 2, mRNA (cDNA clone MGC:116731 IMAGE:40000866), complete cds.
BC096092 - Homo sapiens sterol O-acyltransferase 2, mRNA (cDNA clone MGC:116733 IMAGE:40000868), complete cds.
BC099626 - Homo sapiens sterol O-acyltransferase 2, mRNA (cDNA clone MGC:116732 IMAGE:40000867), complete cds.
AF059203 - Homo sapiens acyl coenzyme A:cholesterol acyltransferase 2 mRNA, complete cds.
AF099031 - Homo sapiens acyl Co-A: cholesterol acyltransferase-2 (ACAT2) mRNA, complete cds.
JD140287 - Sequence 121311 from Patent EP1572962.
JD103046 - Sequence 84070 from Patent EP1572962.
JD124222 - Sequence 105246 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00100 - Steroid biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein O75908 (Reactome details) participates in the following event(s):

R-HSA-8876696 SOAT1,2 transfer acyl group to CHOL forming CHEST
R-HSA-8964038 LDL clearance
R-HSA-8964043 Plasma lipoprotein clearance
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ACACT2, ACAT2, ENST00000301466.1, ENST00000301466.2, ENST00000301466.3, ENST00000301466.4, ENST00000301466.5, ENST00000301466.6, ENST00000301466.7, NM_003578, O75908, Q4VB99, Q96TD4, Q9UNR2, SOAT2_HUMAN, uc001sbv.1, uc001sbv.2, uc001sbv.3, uc001sbv.4, uc001sbv.5
UCSC ID: ENST00000301466.8
RefSeq Accession: NM_003578
Protein: O75908 (aka SOAT2_HUMAN or SOA2_HUMAN)
CCDS: CCDS8847.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.