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Aliases for SOAT2 Gene

Aliases for SOAT2 Gene

  • Sterol O-Acyltransferase 2 2 3 5
  • Acyl-Coenzyme A:Cholesterol Acyltransferase 2 3 4
  • Cholesterol Acyltransferase 2 3 4
  • EC 2.3.1.26 4 63
  • ACACT2 3 4
  • ACAT-2 3 4
  • ACAT2 3 4
  • Acyl Coenzyme A:Cholesterol Acyltransferase 2 3
  • 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 focal dermal hypoplasia and wolman disease. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include transferase activity, transferring acyl groups and fatty-acyl-CoA binding. An important paralog of this gene is DGAT1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOAT2 Gene

Genomics for SOAT2 Gene

Regulatory Elements for SOAT2 Gene

Promoters for SOAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOAT2 Gene

Chromosome:
12
Start:
53,102,504 bp from pter
End:
53,124,539 bp from pter
Size:
22,036 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

Proteomics data for SOAT2 Gene at MOPED

Selected DME Specific Peptides for SOAT2 Gene

Post-translational modifications for SOAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for SOAT2 Gene

Protein Domains for SOAT2 Gene

Suggested Antigen Peptide Sequences for SOAT2 Gene

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

No data available for Gene Families for SOAT2 Gene

Function for SOAT2 Gene

Molecular function for SOAT2 Gene

GENATLAS Biochemistry:
sterol O-acyltransferase 2,a crucial element of intracellular lipid homeostasis
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + cholesterol = CoA + cholesterol ester.
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.

Enzyme Numbers (IUBMB) 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
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

miRNA for SOAT2 Gene

miRTarBase miRNAs that target SOAT2

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
Jensen Localization Image for SOAT2 Gene COMPARTMENTS Subcellular localization image for SOAT2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SOAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SOAT2: view

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:0008152 metabolic process IEA --
GO:0034379 very-low-density lipoprotein particle assembly IMP 15308631
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hesperetin Approved Pharma Target, inhibitor 0
cholesterol Experimental Pharma Agonist 0
Propionyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

(69) 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with SOAT2: view

Transcripts for SOAT2 Gene

mRNA/cDNA for SOAT2 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOAT2 Gene

Sterol O-acyltransferase 2:
Representative Sequences:

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 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, PaxDb, and MOPED for SOAT2 Gene



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.
genes like me logo Genes that share expression patterns with SOAT2: view

Protein tissue co-expression partners for SOAT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 99.3 (n)
  • 99.23 (a)
SOAT2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOAT2 35
  • 87.05 (n)
  • 86.15 (a)
SOAT2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOAT2 36
  • 83 (a)
OneToOne
SOAT2 35
  • 85.64 (n)
  • 83.85 (a)
mouse
(Mus musculus)
Mammalia Soat2 16
Soat2 36
  • 81 (a)
OneToOne
Soat2 35
  • 83.82 (n)
  • 82.85 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia SOAT2 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Soat2 35
  • 84.07 (n)
  • 82.85 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 48 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.10984 35
tropical clawed frog
(Silurana tropicalis)
Amphibia soat2 35
  • 62.15 (n)
  • 57.96 (a)
Str.20260 35
zebrafish
(Danio rerio)
Actinopterygii soat2 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8112 36
  • 29 (a)
OneToMany
CG8112 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea mboa-1 36
  • 26 (a)
OneToMany
B0395.2 37
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARE1 36
  • 14 (a)
ManyToMany
ARE2 36
  • 13 (a)
ManyToMany
Species with no ortholog for SOAT2:
  • 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)

Paralogs for SOAT2 Gene

Paralogs for SOAT2 Gene

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

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 Sequence Context AA Info Type
rs9658625 - 53,103,618(+) GACAG(A/G)AGGGC nc-transcript-variant, reference, missense
VAR_020374 -
rs2472586 -- 53,119,466(+) CACCC(A/G)GATCT intron-variant
rs2472588 -- 53,122,176(+) GCCAC(A/G)CTCCC intron-variant
rs2272297 -- 53,121,248(+) GAGCC(A/G)GAACC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517066 CNV Loss 19592680
nsv899099 CNV Loss 21882294
nsv470294 CNV Loss 18288195
nsv712 CNV Insertion 18451855
nsv832417 CNV Gain 17160897
nsv470295 CNV Gain 18288195
nsv713 CNV Insertion 18451855
nsv469404 CNV Loss 19166990

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)

Relevant External Links for SOAT2 Gene

HapMap Linkage Disequilibrium report
SOAT2
Human Gene Mutation Database (HGMD)
SOAT2

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

Disorders for SOAT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SOAT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
focal dermal hypoplasia
  • goltz syndrome
wolman disease
  • cholesteryl ester storage disease
- elite association - COSMIC cancer census association via MalaCards
Search SOAT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SOAT2

Genetic Association Database (GAD)
SOAT2
Human Genome Epidemiology (HuGE) Navigator
SOAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOAT2
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 S.L. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Human acyl-CoA:cholesterol acyltransferase 2 gene expression in intestinal Caco-2 cells and in hepatocellular carcinoma. (PMID: 16274362) Song B.L. … Li B.L. (Biochem. J. 2006) 3 23
  3. A critical role for the histidine residues in the catalytic function of acyl-CoA:cholesterol acyltransferase catalysis: evidence for catalytic difference between ACAT1 and ACAT2. (PMID: 16647063) An S. … Jeong T.S. (FEBS Lett. 2006) 3 23
  4. Control of ACAT2 liver expression by HNF1. (PMID: 15961790) Pramfalk C. … Parini P. (J. Lipid Res. 2005) 3 23
  5. Two human ACAT2 mRNA variants produced by alternative splicing and coding for novel isoenzymes. (PMID: 16331323) Yao X.M. … Li B.L. (Acta Biochim. Biophys. Sin. (Shanghai) 2005) 3 23

Products for SOAT2 Gene

Sources for SOAT2 Gene

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