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

SQLE Gene

protein-coding   GIFtS: 62
GCID: GC08P126010

Squalene Epoxidase

  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
Squalene Epoxidase1 2 3
SE2 3
Squalene Monooxygenase2
EC 1.14.13.1323
ERG13

External Ids:    HGNC: 112791   Entrez Gene: 67132   Ensembl: ENSG000001045497   OMIM: 6020195   UniProtKB: Q145343   

Export aliases for SQLE gene to outside databases

Previous GC identifers: GC08P125035 GC08P126015 GC08P125679 GC08P125968 GC08P126079 GC08P121334


(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 SQLE Gene:
Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the
rate-limiting enzymes in this pathway. (provided by RefSeq, Jul 2008)

GeneCards Summary for SQLE Gene: 
SQLE (squalene epoxidase) is a protein-coding gene. Diseases associated with SQLE include tinea cruris, and tinea pedis, and among its related super-pathways are Cholesterol biosynthesis and Activation of Gene Expression by SREBP (SREBF). GO annotations related to this gene include squalene monooxygenase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: ERG1_HUMAN, Q14534
Function: Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the
rate-limiting enzymes in this pathway

Gene Wiki entry for SQLE (Squalene monooxygenase) 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_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SQLE gene promoter:
         HOXA9   HOXA9B   AML1a   NRSF form 2   Arnt   RORalpha2   Meis-1a   NF-Y   CBF(2)   Meis-1   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SQLE


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

Entrez Gene cytogenetic band: 8q24.1   Ensembl cytogenetic band:  8q24.13   HGNC cytogenetic band: 8q24.1

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P126010:  view genomic region     (about GC identifiers)

Start:
126,010,720 bp from pter      End:
126,034,525 bp from pter
Size:
23,806 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: ERG1_HUMAN, Q14534 (See protein sequence)
Recommended Name: Squalene monooxygenase  
Size: 574 amino acids; 63923 Da
Cofactor: FAD
Subunit: May form a complex with squalene synthase
Subcellular location: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
membrane protein
Secondary accessions: Q9UEK6

Explore the universe of human proteins at neXtProt for SQLE: NX_Q14534

Explore proteomics data for SQLE at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14534

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

    SQLE Protein Expression
    REFSEQ proteins: NP_003120.2  
    ENSEMBL proteins: 
     ENSP00000430331   ENSP00000265896   ENSP00000428239   ENSP00000429916  
    Reactome Protein details: Q14534
    Human Recombinant Protein Products for SQLE: 
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    Novus Biologicals SQLE Proteins
    Novus Biologicals SQLE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SQLE 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle NAS--

    SQLE for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for SQLE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR013698 Squalene_epoxidase
     IPR003042 Rng_hydrolase-like
     IPR001327 Pyr_OxRdtase_NAD-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q14534

    ProtoNet protein and cluster: Q14534

    1 Blocks protein domain: IPB013698 Squalene epoxidase

    UniProtKB/Swiss-Prot: ERG1_HUMAN, Q14534
    Similarity: Belongs to the squalene monooxygenase family


    SQLE 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: ERG1_HUMAN, Q14534
    Function: Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the
    rate-limiting enzymes in this pathway
    Catalytic activity: Squalene + NADPH + O(2) = (3S)-2,3-epoxy-2,3-dihydrosqualene + NADP(+) + H(2)O

         Genatlas biochemistry entry for SQLE:
    squalene epoxidase catalyzing the first oxygenation step in sterol biosynthesis

         Enzyme Number (IUBMB): EC 1.14.13.1321

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004506squalene monooxygenase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    SQLE for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sqle):
     behavior/neurological  craniofacial  growth/size  immune system  integument 
     mortality/aging  respiratory system  skeleton 

    SQLE for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SQLE 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SQLE 
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    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SQLE:
    hsa-miR-579 hsa-miR-518a-5p hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidSQLE 3' UTR sequence
    Inhib. RNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SQLE


    (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 SQLE About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis III (via desmosterol)0.59
    superpathway of cholesterol biosynthesis0.85
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis I0.59
    2Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Statin Pathway, Pharmacodynamics
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    5epoxysqualene biosynthesis
    epoxysqualene biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8 BioSystems Pathways for SQLE (see all 8)
        Cholesterol biosynthesis
    Statin Pathway
    SREBP signalling
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis

    5        Reactome Pathways for SQLE
        Metabolism
    Cholesterol biosynthesis
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

    2 PharmGKB Pathways for SQLE
        Bisphosphonate Pathway, Pharmacodynamics
    Statin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for SQLE):
        Metabolic pathways

    UniProtKB/Swiss-Prot: ERG1_HUMAN, Q14534
    Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 2/3


    SQLE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SQLE

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

    5/65 Interacting proteins for SQLE (Q145343 ENSP000002658964) via UniProtKB, MINT, STRING, and/or I2D (see all 65)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNM1LO004293, ENSP000002664814I2D: score=1 STRING: ENSP00000266481
    SC5DO758453, ENSP000002640274I2D: score=1 STRING: ENSP00000264027
    UBCP0CG483, ENSP000003448184I2D: score=3 STRING: ENSP00000344818
    MSMO1Q158003, ENSP000002615074I2D: score=2 STRING: ENSP00000261507
    CYP51A1Q168503, ENSP000000031004I2D: score=1 STRING: ENSP00000003100
    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:0006695cholesterol biosynthetic process TAS--
    GO:0006725cellular aromatic compound metabolic process IEA--
    GO:0008203cholesterol metabolic process ----
    GO:0010033response to organic substance IEA--
    GO:0016126sterol biosynthetic process NAS9286711

    SQLE 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

    SQLE for compounds           About GeneDecksing

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

    Browse Tocris compounds for SQLE (ERG1)

    4 HMDB Compounds for SQLE    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Ferricytochrome553-12-8 (FREE ACID) (see all 21)1818-68-4--
    Ferrocytochrome553-12-8 (FREE ACID) (see all 21)1818-68-4--
    Squalene(E,E,E,E)-Squalene (see all 10)111-02-4--

    4 DrugBank Compounds for SQLE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TerbinafineTerbinafine HCl (see all 3)91161-71-6targetinhibitor1543672 14638499 11752352 19874252 12226513 12100530 12477372 12963042
    ButenafineButenafina [INN-Spanish] (see all 5)101828-21-1targetinhibitor18624686 12499173 11752352 8494375 16079485 17642865
    Naftifine-- 65472-88-0targetinhibitor3877503 12499173 11752352 8834895 1287164 1951574
    Ellagic Acid-- 476-66-4targetinhibitor11520216

    10/25 Novoseek inferred chemical compound relationships for SQLE gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    squalene 97.1 160 1964954 (7), 11181753 (6), 9324936 (5), 9300786 (4) (see all 75)
    naftifine 91.2 3 17896810 (1), 1951574 (1), 12499173 (1)
    dimethyltelluride 89 1 11181753 (1)
    terbinafine 87.5 31 15980358 (5), 15682641 (2), 16466954 (2), 15215099 (2) (see all 16)
    ergosterol 84.8 17 18096502 (2), 12477372 (2), 16466954 (2), 1287164 (1) (see all 10)
    lanosterol 81.1 5 16079485 (1), 7791529 (1), 15893902 (1)
    butenafine 78.4 2 16079485 (1), 12499173 (1)
    tolnaftate 78.4 1 12499173 (1)
    sterol 74.5 11 8626488 (1), 7791529 (1), 19680554 (1), 1803242 (1) (see all 9)
    tellurium 67.4 9 11181753 (5), 8090356 (1)

    Search CenterWatch for drugs/clinical trials and news about SQLE / ERG1

    (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,
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    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 SQLE gene: 
    NM_003129.3  

    Unigene Cluster for SQLE:

    Squalene epoxidase
    Hs.71465  [show with all ESTs]
    Unigene Representative Sequence: NM_003129
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523430 ENST00000265896(uc011liq.2) ENST00000521232 ENST00000518931
    ENST00000520493 ENST00000518604
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF098865.1 AK225085.1 AK295302.1 AK301792.1 AK313384.1 BC017033.1 BX647400.1 BX647605.1 
    D78129.1 D78130.1 

    10 DOTS entries:

    DT.97857247  DT.117824  DT.40299615  DT.95210936  DT.100757709  DT.92441125  DT.95210960  DT.75155650 
    DT.92441126  DT.95210930 

    24/265 AceView cDNA sequences (see all 265):

    AI810962 Z38352 AI802469 AU102597 AW083163 BU839482 AU125689 AI143944 
    AI471982 F05344 AI216185 AW170130 AU136459 AA341650 AI802289 AK055357 
    AW072301 AA158138 BM069543 BM790548 AA132213 BP368846 CB106889 CR599266 

    GeneLoc Exon Structure


    (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

    SQLE expression in normal human tissues (normalized intensities)      SQLE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAATAAAAT
    SQLE Expression
    About this image


    SQLE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Umbilical Cord (Extraembryonic Tissues)
             cord blood   
     
     Blood (Extraembryonic Tissues)
             cord blood   

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

    SOURCE GeneReport for Unigene cluster: Hs.71465
        SABiosciences Custom PCR Arrays for SQLE
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SQLE

    (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 eukaryotes.

    Orthologs for SQLE gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sqle1 , 5 squalene epoxidase1, 5 82.98(n)1
    84.44(a)1
      15 (25.16 cM)5
    207751  NM_009270.31  NP_033296.11 
     593150775 
    chicken
    (Gallus gallus)
    Aves SQLE1 squalene epoxidase 73.71(n)
    71.73(a)
      420335  NM_001194927.1  NP_001181856.1 
    lizard
    (Anolis carolinensis)
    Reptilia SQLE6
    Uncharacterized protein
    68(a)
    1 ↔ 1
    4(5772450-5808567)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1718011 zgc:171801 64.98(n)
    65.59(a)
      799528  NM_001110039.1  NP_001103509.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG1(YGR175C)4
    ERG11
    Squalene epoxidase, catalyzes the epoxidation of squalene more4
    Erg1p1
    49.62(n)1
    40(a)1
      7(848423-846933)4
    8530861, 4  NP_011691.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons XF11 squalene monooxygenase 50.59(n)
    44.91(a)
      842213  NM_104624.3  NP_564734.1 
    rice
    (Oryza sativa)
    Liliopsida Os.209692 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.66(n)    AK065032.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SQLE gene
    2 SIMAP similar genes for SQLE using alignment to 4 protein entries:     ERG1_HUMAN (see all proteins):
    ERG1    DKFZp686B0215

    SQLE for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SQLE
    PGOHUM00000257216


    (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

    10/556 SNPs in SQLE are shown (see all 556)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906282651,2
    C--126008790(+) CAGAGC/TGAGAC 1 -- us2k10--------
    rs78152711,2
    C,F--126008885(+) CAGTTT/CATTGA 1 -- us2k12Minor allele frequency- C:0.24WA 120
    rs1480285101,2
    C--126008966(+) ATGTCA/CGTTCA 1 -- us2k10--------
    rs37635451,2
    C--126009021(+) AGAATA/GAAAGT 1 -- us2k14Minor allele frequency- G:0.08WA NA EA 360
    rs1824927211,2
    --126009106(+) TTTGGC/TTTCAT 1 -- us2k10--------
    rs1417537361,2
    C--126009368(+) AGTTGC/GCTTCT 1 -- us2k10--------
    rs786837021,2
    F--126009595(+) ATCTAG/AAGATT 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs758964191,2
    F--126009675(+) AGCCAC/AGCTCC 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs38532551,2
    C,F,A,H--126009831(-) AGTCTC/TGGAGT 1 -- us2k113Minor allele frequency- T:0.10NS EA NA WA 1488
    rs1505872941,2
    --126009853(+) TTGCTA/CCCTCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SQLE (126010720 - 126034525 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SQLE:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv268241CNV Insertion20981092
    esv274006CNV Insertion20981092
    nsv891434CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SQLE

    (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: 602019    OMIM disorders: --

    13 diseases for SQLE:    About MalaCards
    tinea cruris    tinea pedis    pityriasis versicolor    candida glabrata
    tinea capitis    lung squamous cell carcinoma    hypercholesterolemia    cytochrome p450
    squamous cell carcinoma    obesity    pancreatitis    breast cancer
    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for SQLE:
    Tinea cruris     Tinea pedis     Tinea capitis

    SQLE for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SQLE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    infection fungal 36 2 17531123 (1), 12956204 (1)
    demyelination 30 1 11181753 (1)
    hypercholesterolemia 28 1 1649182 (1)

    Genetic Association Database (GAD): SQLE
    Human Genome Epidemiology (HuGE) Navigator: SQLE (5 documents)

    Export disorders for SQLE 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 SQLE gene, integrated from 9 sources (see all 109):
    (articles sorted by number of sources associating them with SQLE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of the squalene epoxidase gene (SQLE) to human chromosome region 8q24.1. (PubMed id 9286711)1, 2, 3, 9 Nagai M.... Ono T. (1997)
    2. Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells. (PubMed id 8626488)1, 2, 9 Nakamura Y.... Ono T. (1996)
    3. 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)
    4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    5. Squalene epoxidase, located on chromosome 8q24.1, is upregulated in 8q+ breast cancer and indicates poor clinical outcome in stage I and II disease. (PubMed id 18728668)1, 9 Helms M.W....Brandt B.H. (2008)
    6. Cloning, heterologous expression, and enzymological characterization of human squalene monooxygenase. (PubMed id 10666321)1, 9 Laden B.P....Porter T.D. (2000)
    7. Terbinafine: a review of its use in onychomycosis in adults. (PubMed id 12477372)7, 9 Darkes M.J....Goa K.L. (2003)
    8. Mode of action of anti-Candida drugs: focus on terconazole and other ergosterol biosynthesis inhibitors. (PubMed id 1951574)7, 9 Vanden Bossche H. and Marichal P. (1991)
    9. In vitro antifungal activity of ZJ-522, a new triazole restructured from fluconazole and butenafine, against clinically important fungi in comparison with fluconazole and butenafine. (PubMed id 16079485)7, 9 Gao P.H....Jiang Y.Y. (2005)
    10. Clinical Trichophyton rubrum strain exhibiting primary resistance to terbinafine. (PubMed id 12499173)7, 9 Mukherjee P.K....Ghannoum M.A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6713 HGNC: 11279 AceView: SQLE Ensembl:ENSG00000104549 euGenes: HUgn6713
    ECgene: SQLE Kegg: 6713 H-InvDB: SQLE

    (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 SQLE 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 SQLE gene:
    Search GeneIP for patents involving SQLE

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



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