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SOAT2 Gene

protein-coding   GIFtS: 62
GCID: GC12P053497

Sterol O-Acyltransferase 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sterol O-Acyltransferase 21 2     EC 2.3.1.263 8
ACACT22 3 5     ARGP22
Acyl-Coenzyme A:Cholesterol Acyltransferase 22 3     Acyl Co-A: Cholesterol Acyltransferase 22
Cholesterol Acyltransferase 22 3     Acyl Coenzyme A:Cholesterol Acyltransferase 22
ACAT-22 3     Acyl-CoA:Cholesterol Acyltransferase 22
ACAT22 3     

External Ids:    HGNC: 111781   Entrez Gene: 84352   Ensembl: ENSG000001677807   OMIM: 6013115   UniProtKB: O759083   

Export aliases for SOAT2 gene to outside databases

Previous GC identifers: GC12P053656 GC12P053410 GC12P053214 GC12P051783 GC12P050540


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 triple-a syndrome, and coronary heart disease. GO annotations related to this gene include cholesterol binding and fatty-acyl-CoA binding. An important paralog of this gene is SOAT1.

UniProtKB/Swiss-Prot: SOAT2_HUMAN, O75908
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

Gene Wiki entry for SOAT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SOAT2 gene promoter:
         ISGF-3   AML1a   GCNF   Pax-6   HSF1 (long)   Lmo2   IRF-1   GCNF-1   HSF1short   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SOAT2 promoter sequence
   Search Chromatin IP Primers for SOAT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SOAT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

SOAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOAT2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053497:  view genomic region     (about GC identifiers)

Start:
53,497,274 bp from pter      End:
53,518,323 bp from pter
Size:
21,050 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SOAT2_HUMAN, O75908 (See protein sequence)
Recommended Name: Sterol O-acyltransferase 2  
Size: 522 amino acids; 59896 Da
Subunit: May form homo- or heterodimers (By similarity)
Secondary accessions: Q4VB99 Q96TD4 Q9UNR2

Explore the universe of human proteins at neXtProt for SOAT2: NX_O75908

Explore proteomics data for SOAT2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for SOAT2 (O75908)
     DWWNSTS  AMLGVFLVSA  SNYYRTWNVVVHDWLY  FFAFLHCWLNAFAEMLRFGDRMFY 


    See SOAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003569.1  
    ENSEMBL proteins: 
     ENSP00000450120   ENSP00000301466   ENSP00000442234  

    SOAT2 Human Recombinant Protein Products:

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    Novus Biologicals SOAT2 Protein
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    Cloud-Clone Corp. Proteins for SOAT2

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    Cloud-Clone Corp. ELISAs for SOAT2
    Cloud-Clone Corp. CLIAs for SOAT2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR014371 Oat_ACAT_DAG_ARE
     IPR004299 MBOAT_fam

    Graphical View of Domain Structure for InterPro Entry O75908

    ProtoNet protein and cluster: O75908

    1 Blocks protein domain: IPB004299 Membrane bound O-acyl transferase

    UniProtKB/Swiss-Prot: SOAT2_HUMAN, O75908
    Similarity: Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily


    SOAT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SOAT2_HUMAN, O75908
    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

         Genatlas biochemistry entry for SOAT2:
    sterol O-acyltransferase 2,a crucial element of intracellular lipid homeostasis

         Enzyme Number (IUBMB): EC 2.3.1.261 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IDA16647063
    GO:0004772sterol O-acyltransferase activity ----
    GO:0008374O-acyltransferase activity ----
    GO:0015485cholesterol binding IDA16647063
    GO:0016746transferase activity, transferring acyl groups TAS9756920
         
    SOAT2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SOAT2:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Soat2):
     cardiovascular system  digestive/alimentary  homeostasis/metabolism  liver/biliary system  no phenotypic analysis 

    SOAT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Soat2tm1Far for SOAT2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SOAT2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SOAT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SOAT2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SOAT2

    miRNA
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    miRTarBase miRNAs that target SOAT2:
    hsa-mir-335-5p (MIRT018756)

    Block miRNA regulation of human, mouse, rat SOAT2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SOAT2:
    hsa-miR-3919
    SwitchGear 3'UTR luciferase reporter plasmidSOAT2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SOAT2
    Predesigned siRNA for gene silencing in human, mouse, rat SOAT2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SOAT2 (NM_003578)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SOAT2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOAT2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOAT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SOAT2_HUMAN, O75908: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15451793
    GO:0005789endoplasmic reticulum membrane IDA12808042
    GO:0005903brush border IDA14615411
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    SOAT2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SOAT2 About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    Steroid biosynthesis0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SOAT2):
        Steroid biosynthesis


    SOAT2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SOAT2
    Interactions:

        Search GeneGlobe Interaction Network for SOAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SOAT2 (ENSP000003014664) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CELENSP000003611514STRING: ENSP00000361151
    DHCR24ENSP000003603164STRING: ENSP00000360316
    DHCR7ENSP000003477174STRING: ENSP00000347717
    LIPAENSP000003373544STRING: ENSP00000337354
    CYP11A1ENSP000002680534STRING: ENSP00000268053
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008203cholesterol metabolic process IDA16647063
    GO:0010742macrophage derived foam cell differentiation TAS14615411
    GO:0030299intestinal cholesterol absorption IC14615411
    GO:0033344cholesterol efflux IMP15308631
    GO:0034379very-low-density lipoprotein particle assembly IMP15308631

    SOAT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for SOAT2
      Browse compounds at ApexBio 

    Browse Tocris compounds for SOAT2

    Selected HMDB Compounds for SOAT2 (see all 66)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    1 DrugBank Compound for SOAT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HesperetinCyanidanon 4'-Methyl Ether 1626 (see all 3)520-33-2targetinhibitor17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for SOAT2 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyripyropene a 93.5 5 18997389 (3), 17390588 (1), 17614133 (1)
    avasimibe 80.2 1 16730694 (1)
    cholesterol 69.7 53 12975367 (7), 17950700 (4), 19467657 (4), 18502767 (2) (see all 26)
    cholesterol ester 67.2 4 17872457 (1), 11071899 (1), 12975367 (1)
    sterol 67.1 5 12975367 (3), 17950700 (1)
    25-hydroxycholesterol 53.9 1 11294643 (1)
    acyl-coa 53.3 4 17872457 (1), 17277381 (1), 12518025 (1)
    oleic acid 50.3 5 11294643 (2), 15308631 (1)
    triacylglycerol 48.8 1 20405839 (1)
    lipid 39 4 16195894 (2), 14617738 (1), 12621162 (1)



    SOAT2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SOAT2 gene: 
    NM_003578.3  

    Unigene Cluster for SOAT2:

    Sterol O-acyltransferase 2
    Hs.656544  [show with all ESTs]
    Unigene Representative Sequence: NM_003578
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551896 ENST00000301466(uc001sbv.3 uc009zms.3) ENST00000542365

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate SOAT2:
    hsa-miR-3919
    SwitchGear 3'UTR luciferase reporter plasmidSOAT2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat SOAT2

    Additional mRNA sequence: 

    AF059203.1 AF099031.2 BC096090.1 BC096091.3 BC096092.3 

    3 DOTS entries:

    DT.104317  DT.121118989  DT.121118278 

    8 AceView cDNA sequences:

    AU099137 BX279599 AF099031 NM_003578 AF059203 R10273 R10272 N76642 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SOAT2    About this scheme

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


    ECgene alternative splicing isoforms for SOAT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SOAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTCTTAG
    SOAT2 Expression
    About this image


    SOAT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
    SOAT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SOAT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656544
        Custom PCR Arrays for SOAT2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SOAT2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOAT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SOAT2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Soat21 , 5 sterol O-acyltransferase 21, 5 83.82(n)1
    82.85(a)1
      15 (57.33 cM)5
    2239201  NM_146064.11  NP_666176.11 
     1021505265 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    51(a)
    50(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    2(70410966-70424596)
    AAWZ02039930(1166-6811)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.109842 Xenopus laevis transcribed sequence with weak similarity more 72.46(n)    48028843 
    zebrafish
    (Danio rerio)
    Actinopterygii soat26
    sterol O-acyltransferase 2
    45(a)
    1 ↔ 1
    6(58639809-58667313) ENSDARG00000059824
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81123 sterol O-acyltransferase 34(a)   85A8   --
    worm
    (Caenorhabditis elegans)
    Secernentea B0395.23 Sterol O-acyltransferase 33(a)   X(16061623-16065478)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARE16
    ARE26
    Acyl-CoA:sterol acyltransferase, isozyme of Are2p;...
    Acyl-CoA:sterol acyltransferase, isozyme of Are1p;...
    14(a)
    13(a)
    many ↔ many
    many ↔ many
    III(211929-213761) YCR048W
    XIV(665339-667267) YNR019W


    ENSEMBL Gene Tree for SOAT2 (if available)
    TreeFam Gene Tree for SOAT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SOAT2 gene
    SOAT12  DGAT12  
    1 SIMAP similar gene for SOAT2 using alignment to 5 protein entries:     SOAT2_HUMAN (see all proteins):
    SOAT1

    SOAT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SOAT2 (see all 644)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs793152251,2
    F--53496642(+) CCTGAA/GATTAT 1 -- us2k13Minor allele frequency- G:0.05CSA WA 122
    rs1864599761,2
    --53496683(+) ATCCGA/GTTCTT 1 -- us2k10--------
    rs1894408751,2
    --53496703(+) ACAATA/TCCTGG 1 -- us2k10--------
    rs96586221,2
    C,F,H--53496704(+) CAATAC/GCTGGT 1 -- us2k110Minor allele frequency- G:0.01NS EA NA EU CSAM 946
    rs96586231,2
    C,F,H--53496705(+) AATACC/TTGGTA 1 -- us2k117Minor allele frequency- T:0.01NS EA NA EU CSAM 1730
    rs358021621,2
    C,F--53496730(+) AATACG/ATGTTT 1 -- us2k15Minor allele frequency- A:0.01NA EU CSAM EA 380
    rs1814858091,2
    --53496785(+) GGAAGC/TGGCCC 1 -- us2k10--------
    rs96586241,2
    C,F--53496882(+) ACCACAT/-GTGTC 1 -- us2k117Minor allele frequency- -:0.02NS NA EU CSAM EA MN 2676
    rs1857852041,2
    --53496921(+) CTGAAC/TGCACT 1 -- us2k10--------
    rs81790191,2
    F,H--53496922(+) TGAACG/TCACTG 1 -- us2k1 tfbs35Minor allele frequency- T:0.00NS EA 489

    HapMap Linkage Disequilibrium report for SOAT2 (53497274 - 53518323 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SOAT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv713CNV Insertion18451855
    nsv712CNV Insertion18451855
    nsv899099CNV Loss21882294
    nsv469404CNV Loss19166990
    nsv470294CNV Loss18288195
    nsv517066CNV Loss19592680
    nsv470295CNV Gain18288195
    nsv832417CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601311    OMIM disorders: --

    15 diseases for SOAT2:    
    About MalaCards
    triple-a syndrome    coronary heart disease    hypercholesterolemia    lung cancer susceptibility
    atherosclerosis    hepatocellular carcinoma    hepatitis c virus    coronary artery disease
    renal cell carcinoma    hepatitis c    obesity    kidney disease
    lung cancer    hepatitis    endotheliitis


    SOAT2 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for SOAT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 51.6 6 19759374 (2), 14615411 (1), 16195894 (1)
    hypercholesterolemia 40.6 2 16195894 (1)
    hyperlipidemia 33.9 1 12621162 (1)
    coronary heart disease 15 2 17277381 (1), 19467657 (1)
    dyslipidemia 13.5 9 11325614 (2), 15242859 (2)
    hepatocellular carcinoma 0 2 16274362 (2)

    Genetic Association Database (GAD): SOAT2
    Human Genome Epidemiology (HuGE) Navigator: SOAT2 (8 documents)

    Export disorders for SOAT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SOAT2 gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with SOAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of two human genes encoding acyl coenzyme A:cholesterol acyltransferase-related enzymes. (PubMed id 9756920)1, 2, 3, 9 Oelkers P.... Sturley S.L. (J. Biol. Chem. 1998)
    2. Structure of the human acyl-CoA:cholesterol acyltransferase-2 (ACAT- 2) gene and its relation to dyslipidemia. (PubMed id 11325614)1, 2, 9 Katsuren K.... Ohta T. (Biochim. Biophys. Acta 2001)
    3. Immunological quantitation and localization of ACAT-1 and ACAT-2 in human liver and small intestine. (PubMed id 10846185)1, 2, 9 Chang C.C.Y.... Chang T.-Y. (J. Biol. Chem. 2000)
    4. Organization of human ACAT-2 gene and its cell-type-specific promoter activity. (PubMed id 11401500)1, 2, 9 Song B.L....Li B.L. (Biochem. Biophys. Res. Commun. 2001)
    5. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    9. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PubMed id 19878569)1, 4 Chen S.N....Marian A.J. (BMC Med. Genet. 2009)
    10. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8435 HGNC: 11178 AceView: SOAT2 Ensembl:ENSG00000167780 euGenes: HUgn8435
    ECgene: SOAT2 Kegg: 8435 H-InvDB: SOAT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SOAT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SOAT2 gene:
    Search GeneIP for patents involving SOAT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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