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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOAT2 Gene

protein-coding   GIFtS: 62
GCID: GC12P053497

Sterol O-Acyltransferase 2

Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are cholesterol biosynthesis III (via desmosterol). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SOAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75908

  • 4 DME Specific Peptides for SOAT2 (O75908)
     DWWNSTS  AMLGVFLVSA  SNYYRTWNVVVHDWLY  FFAFLHCWLNAFAEMLRFGDRMFY 

    SOAT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOAT2 Protein Expression
    REFSEQ proteins: NP_003569.1  
    ENSEMBL proteins: 
     ENSP00000450120   ENSP00000301466   ENSP00000442234  

    Human Recombinant Protein Products for SOAT2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SOAT2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 to membrane IEA--

    SOAT2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for SOAT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    hsa-miR-3919
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOAT2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SOAT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Steroid biosynthesis0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    SOAT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SOAT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for SOAT2 (ENSP000003014664) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CELENSP000003611514STRING: ENSP00000361151
    DHCR24ENSP000003603164STRING: ENSP00000360316
    DHCR7ENSP000003477174STRING: ENSP00000347717
    LIPAENSP000003373544STRING: ENSP00000337354
    CH25HENSP000003609184STRING: ENSP00000360918
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SOAT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for SOAT2

    Browse Tocris compounds for SOAT2

    10/66 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

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about SOAT2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    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 AF059203 AF099031 NM_003578 R10272 R10273 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SOAT2 expression in normal human tissues (normalized intensities)      SOAT2 embryonic expression: see
    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 
     5/1 selected tissues (see all 1) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...

    See SOAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOAT2

    SOURCE GeneReport for Unigene cluster: Hs.656544
        SABiosciences Custom PCR Arrays for SOAT2
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    In Situ
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    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)
    About This Section

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

    Orthologs for SOAT2 gene from 7/13 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 84.08(n)1
    83.24(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)
    49(a)
    49(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
    48(a)
    1 ↔ 1
    6(58639810-58667273)
    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;...
    16(a)
    14(a)
    many ↔ many
    many ↔ many
    III(211929-213761)
    XIV(665339-667267)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/644 SNPs in SOAT2 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601311    OMIM disorders: --

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


    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)
    About This Section

    PubMed articles for SOAT2 gene, integrated from 9 sources (see all 93):
    (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. (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. (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. (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. (2001)
    5. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    9. Candidate genetic analysis of plasma high-density lip oprotein-cholesterol and severity of coronary atherosclerosis. (PubMed id 19878569)1, 4 Chen S.N....Marian A.J. (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. (2008)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 8435 HGNC: 11178 AceView: SOAT2 Ensembl:ENSG00000167780 euGenes: HUgn8435
    ECgene: SOAT2 Kegg: 8435 H-InvDB: SOAT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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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