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 implicat... See more...

Aliases for SOAT2 Gene

Aliases for SOAT2 Gene

  • Sterol O-Acyltransferase 2 2 3 4 5
  • Cholesterol Acyltransferase 2 3 4
  • EC 2.3.1.26 4 54
  • ACACT2 3 4
  • ACAT-2 3 4
  • ACAT2 3 4
  • Acyl Coenzyme A:Cholesterol Acyltransferase 2 3
  • Acyl-Coenzyme A:Cholesterol Acyltransferase 2 4
  • Acyl Co-A: Cholesterol Acyltransferase 2 3
  • Acyl-CoA:Cholesterol Acyltransferase 2 3
  • ARGP2 3

External Ids for SOAT2 Gene

Previous GeneCards Identifiers for SOAT2 Gene

  • GC12P053656
  • GC12P053410
  • GC12P053214
  • GC12P051783
  • GC12P053497
  • GC12P050540

Summaries for SOAT2 Gene

Entrez Gene Summary for SOAT2 Gene

  • 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]

GeneCards Summary for SOAT2 Gene

SOAT2 (Sterol O-Acyltransferase 2) is a Protein Coding gene. Diseases associated with SOAT2 include Lysosomal And Lipase Deficiency and Lysosomal Acid Lipase Deficiency. Among its related pathways are cholesterol biosynthesis I and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and fatty-acyl-CoA binding. An important paralog of this gene is SOAT1.

UniProtKB/Swiss-Prot Summary for SOAT2 Gene

  • 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.

Gene Wiki entry for SOAT2 Gene

Additional gene information for SOAT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOAT2 Gene

Genomics for SOAT2 Gene

GeneHancer (GH) Regulatory Elements for SOAT2 Gene

Promoters and enhancers for SOAT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOAT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOAT2 gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • HSF1 (long)
  • HSF1short
  • IRF-1
  • ISGF-3
  • Lmo2
  • Pax-6

Genomic Locations for SOAT2 Gene

Genomic Locations for SOAT2 Gene
chr12:53,102,504-53,124,539
(GRCh38/hg38)
Size:
22,036 bases
Orientation:
Plus strand
chr12:53,497,274-53,518,323
(GRCh37/hg19)
Size:
21,050 bases
Orientation:
Plus strand

Genomic View for SOAT2 Gene

Genes around SOAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOAT2 Gene

Proteins for SOAT2 Gene

  • Protein details for SOAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75908-SOAT2_HUMAN
    Recommended name:
    Sterol O-acyltransferase 2
    Protein Accession:
    O75908
    Secondary Accessions:
    • F5H7W4
    • I6L9H9
    • Q4VB99
    • Q4VBA1
    • Q96TD4
    • Q9UNR2

    Protein attributes for SOAT2 Gene

    Size:
    522 amino acids
    Molecular mass:
    59896 Da
    Quaternary structure:
    • May form homo- or heterodimers.

    Alternative splice isoforms for SOAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOAT2 Gene

Selected DME Specific Peptides for SOAT2 Gene

O75908:
  • DWWNSTS
  • AMLGVFLVSA
  • FFAFLHCWLNAFAEMLRFGDRMFY
  • SNYYRTWNVVVHDWLY

Post-translational modifications for SOAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SOAT2 Gene

Gene Families for SOAT2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for SOAT2 Gene

Suggested Antigen Peptide Sequences for SOAT2 Gene

GenScript: Design optimal peptide antigens:
  • Sterol O-acyltransferase 2 (Q4VBA1_HUMAN)
  • Cholesterol acyltransferase 2 (SOAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75908

UniProtKB/Swiss-Prot:

SOAT2_HUMAN :
  • Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.
Family:
  • Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.
genes like me logo Genes that share domains with SOAT2: view

Function for SOAT2 Gene

Molecular function for SOAT2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an acyl-CoA + cholesterol = a cholesterol ester + CoA; Xref=Rhea:RHEA:17729, ChEBI:CHEBI:16113, ChEBI:CHEBI:17002, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342; EC=2.3.1.26;.
GENATLAS Biochemistry:
sterol O-acyltransferase 2,a crucial element of intracellular lipid homeostasis

Enzyme Numbers (IUBMB) for SOAT2 Gene

Phenotypes From GWAS Catalog for SOAT2 Gene

Gene Ontology (GO) - Molecular Function for SOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IDA 16647063
GO:0004772 sterol O-acyltransferase activity IEA --
GO:0008374 O-acyltransferase activity IEA --
GO:0015485 cholesterol binding IDA 16647063
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with SOAT2: view
genes like me logo Genes that share phenotypes with SOAT2: view

Animal Models for SOAT2 Gene

MGI Knock Outs for SOAT2:

Animal Model Products

CRISPR Products

miRNA for SOAT2 Gene

miRTarBase miRNAs that target SOAT2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOAT2 Gene

Localization for SOAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOAT2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOAT2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 15451793
GO:0005789 endoplasmic reticulum membrane TAS,IDA --
GO:0005903 brush border IDA 14615411
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SOAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SOAT2 Gene

Pathways & Interactions for SOAT2 Gene

genes like me logo Genes that share pathways with SOAT2: view

Interacting Proteins for SOAT2 Gene

Gene Ontology (GO) - Biological Process for SOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IBA,IDA 16647063
GO:0010742 macrophage derived foam cell differentiation TAS 14615411
GO:0030299 intestinal cholesterol absorption IC 14615411
genes like me logo Genes that share ontologies with SOAT2: view

No data available for SIGNOR curated interactions for SOAT2 Gene

Drugs & Compounds for SOAT2 Gene

(14) Drugs for SOAT2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Approved, Investigational Pharma Agonist 0
Hesperetin Experimental Pharma Target, inhibitor 0
CE(18:2(9Z,12Z)) Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(67) Additional Compounds for SOAT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4

(4) ApexBio Compounds for SOAT2 Gene

Compound Action Cas Number
Avasimibe ACAT inhibitor,orally bioavailable 166518-60-1
CI 976 114289-47-3
VULM 1457 228544-65-8
YM 750 138046-43-2
genes like me logo Genes that share compounds with SOAT2: view

Transcripts for SOAT2 Gene

mRNA/cDNA for SOAT2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOAT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -

Relevant External Links for SOAT2 Gene

GeneLoc Exon Structure for
SOAT2
ECgene alternative splicing isoforms for
SOAT2

Expression for SOAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOAT2 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x8.0), Spleen (x5.1), and Liver (x4.7).

Protein differential expression in normal tissues from HIPED for SOAT2 Gene

This gene is overexpressed in Plasma (58.0) and Fetal Liver (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOAT2 Gene



Protein tissue co-expression partners for SOAT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOAT2 Gene:

SOAT2

SOURCE GeneReport for Unigene cluster for SOAT2 Gene:

Hs.656544

mRNA Expression by UniProt/SwissProt for SOAT2 Gene:

O75908-SOAT2_HUMAN
Tissue specificity: Expression seems confined in hepatocytes and enterocytes.

Evidence on tissue expression from TISSUES for SOAT2 Gene

  • Intestine(4.4)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with SOAT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SOAT2 Gene

Orthologs for SOAT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SOAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOAT2 33 32
  • 99.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SOAT2 33 32
  • 87.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SOAT2 33 32
  • 85.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Soat2 32
  • 84.07 (n)
mouse
(Mus musculus)
Mammalia Soat2 17 33 32
  • 83.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SOAT2 33
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 51 (a)
OneToMany
-- 33
  • 50 (a)
OneToMany
-- 33
  • 49 (a)
OneToMany
-- 33
  • 48 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia soat2 32
  • 62.15 (n)
Str.20260 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.10984 32
zebrafish
(Danio rerio)
Actinopterygii soat2 33
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8112 33 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0395.2 34
  • 33 (a)
mboa-1 33
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARE1 33
  • 14 (a)
ManyToMany
ARE2 33
  • 13 (a)
ManyToMany
Species where no ortholog for SOAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOAT2 Gene

ENSEMBL:
Gene Tree for SOAT2 (if available)
TreeFam:
Gene Tree for SOAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOAT2: view image

Paralogs for SOAT2 Gene

Paralogs for SOAT2 Gene

(1) SIMAP similar genes for SOAT2 Gene using alignment to 5 proteins:

  • SOAT2_HUMAN
  • F5H7W4_HUMAN
  • F8VPE9_HUMAN
  • I6L9H9_HUMAN
  • Q4VBA1_HUMAN
genes like me logo Genes that share paralogs with SOAT2: view

Variants for SOAT2 Gene

Sequence variations from dbSNP and Humsavar for SOAT2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000013201 -- 53,115,078(+) A/G intron_variant
rs1000209086 -- 53,125,019(+) G/A downstream_transcript_variant
rs1000830729 -- 53,122,853(+) C/T intron_variant
rs1000836743 -- 53,108,182(+) T/A intron_variant
rs1000893867 -- 53,108,560(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SOAT2 Gene

Variant ID Type Subtype PubMed ID
dgv2644n54 CNV loss 21841781
dgv2645n54 CNV loss 21841781
esv3629538 CNV loss 21293372
nsv469404 CNV loss 19166990
nsv470294 CNV loss 18288195
nsv470295 CNV gain 18288195
nsv517066 CNV loss 19592680
nsv558994 CNV loss 21841781
nsv712 CNV insertion 18451855
nsv713 CNV insertion 18451855
nsv832417 CNV gain 17160897

Variation tolerance for SOAT2 Gene

Residual Variation Intolerance Score: 58.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.48; 85.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOAT2 Gene

Human Gene Mutation Database (HGMD)
SOAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOAT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOAT2 Gene

Disorders for SOAT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SOAT2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
lysosomal and lipase deficiency
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
alcoholic cardiomyopathy
  • alcohol-induced heart muscle disease
- elite association - COSMIC cancer census association via MalaCards
Search SOAT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SOAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOAT2 Gene

Publications for SOAT2 Gene

  1. Characterization of two human genes encoding acyl coenzyme A:cholesterol acyltransferase-related enzymes. (PMID: 9756920) Oelkers P … Sturley SL (The Journal of biological chemistry 1998) 2 3 4 23 56
  2. Two human ACAT2 mRNA variants produced by alternative splicing and coding for novel isoenzymes. (PMID: 16331323) Yao XM … Li BL (Acta biochimica et biophysica Sinica 2005) 3 4 23 56
  3. Organization of human ACAT-2 gene and its cell-type-specific promoter activity. (PMID: 11401500) Song BL … Li BL (Biochemical and biophysical research communications 2001) 3 4 23 56
  4. Structure of the human acyl-CoA:cholesterol acyltransferase-2 (ACAT-2) gene and its relation to dyslipidemia. (PMID: 11325614) Katsuren K … Ohta T (Biochimica et biophysica acta 2001) 3 4 23 56
  5. Immunological quantitation and localization of ACAT-1 and ACAT-2 in human liver and small intestine. (PMID: 10846185) Chang CC … Chang TY (The Journal of biological chemistry 2000) 3 4 23 56

Products for SOAT2 Gene

Sources for SOAT2 Gene