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SMO Gene

protein-coding   GIFtS: 69
GCID: GC07P128828

Smoothened, Frizzled Class Receptor

(Previous names: smoothened (Drosophila) homolog, smoothened homolog (Drosophila),...)
(Previous symbol: SMOH)
  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
Smoothened, Frizzled Class Receptor1 2     Smoothened (Drosophila) Homolog1
SMOH1 2 3 5     Smoothened Homolog (Drosophila)1
Smoothened, Frizzled Family Receptor1 2     FZD112
Smoothened, Seven Transmembrane Spanning Receptor1 2     Gx2
Frizzled Family Member 111 2     Seven Transmembrane Helix Receptor2
Protein Gx2 3     Smoothened Homolog2

External Ids:    HGNC: 111191   Entrez Gene: 66082   Ensembl: ENSG000001286027   OMIM: 6015005   UniProtKB: Q998353   

Export aliases for SMO gene to outside databases

Previous GC identifers: GC07P127306 GC07P128368 GC07P128382 GC07P128422 GC07P128615 GC07P123189


(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 SMO Gene:
The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a
receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a
hedgehog protein/patched protein complex. (provided by RefSeq, Jul 2010)

GeneCards Summary for SMO Gene:
SMO (smoothened, frizzled class receptor) is a protein-coding gene. Diseases associated with SMO include basal cell carcinoma, somatic, and pallister-hall syndrome. GO annotations related to this gene include drug binding and G-protein coupled receptor activity. An important paralog of this gene is FZD3.

UniProtKB/Swiss-Prot: SMO_HUMAN, Q99835
Function: G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the
hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal
inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7 and GLI3 in the cilia

summary for SMO Gene:
Smoothened (Smo) receptors are non-classical G-protein-coupled receptors that belong to the Frizzled family.
Smoothened receptors lack the ability to directly interact with their endogenous ligand, Hedgehog (Hh). In
the resting state, Smo receptors are bound to and repressed by, patched (Ptc). Upon Hh-Ptc interaction, Smo
receptors are liberated and phosphorylated (activated). This initiates a signaling cascade that controls the
activity of transcription factors belonging to the Gli family (particularly Cubitus interruptus (Ci)). Smo
receptors are vital for embryogenesis (segmentation and appendage development) and are involved in
maintainence of tissue homeostasis in adults. The human gene encoding the Smo receptor has been localized on
chromosome 7q32.3.

Gene Wiki entry for SMO (Smoothened) 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_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMO gene promoter:
         HFH-3   NRSF form 1   AP-2gamma   NRSF form 2   Evi-1   Egr-4   FOXI1   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMO promoter sequence
   Search Chromatin IP Primers for SMO

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


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

Entrez Gene cytogenetic band: 7q32.3   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q32.1

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128828:  view genomic region     (about GC identifiers)

Start:
128,828,713 bp from pter      End:
128,853,386 bp from pter
Size:
24,674 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 128,212,668-128,237,345     

(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: SMO_HUMAN, Q99835 (See protein sequence)
Recommended Name: Smoothened homolog precursor  
Size: 787 amino acids; 86397 Da
Subunit: Interacts with ARRB2. Interacts with KIF7. Interacts with BBS5 and BBS7; the interactions are indicative
for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO
2 PDB 3D structures from and Proteopedia for SMO:
4JKV (3D)        4N4W (3D)    

Explore the universe of human proteins at neXtProt for SMO: NX_Q99835

Explore proteomics data for SMO at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn35, Asn188, Asn309
  • Modification sites at PhosphoSitePlus

  • See SMO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005622.1  
    ENSEMBL proteins: 
     ENSP00000249373   ENSP00000418720   ENSP00000420749  
    Reactome Protein details: Q99835

    SMO Human Recombinant Protein Products:

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    Novus Biologicals SMO Proteins
    Novus Biologicals SMO Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SMO

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FZD: GPCR / Class F : Frizzled receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: SMO
    Frizzled Class GPCRs

    5 InterPro protein domains:
     IPR000539 Frizzled
     IPR020067 Frizzled_dom
     IPR026544 SMO
     IPR015526 Frizzled/SFRP
     IPR017981 GPCR_2-like

    Graphical View of Domain Structure for InterPro Entry Q99835

    ProtoNet protein and cluster: Q99835

    1 Blocks protein domain: IPB000539 Frizzled protein signature

    UniProtKB/Swiss-Prot: SMO_HUMAN, Q99835
    Similarity: Belongs to the G-protein coupled receptor Fz/Smo family
    Similarity: Contains 1 FZ (frizzled) domain


    SMO 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: SMO_HUMAN, Q99835
    Function: G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the
    hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal
    inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7 and GLI3 in the cilia

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005113patched binding IPI9811851
    GO:0005515protein binding IPI19592253
    GO:0008144drug binding IDA19304771
         
    SMO for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SMO:
     Decreased Wnt reporter activit  Increased G1 DNA content  Synthetic lethal with paclitax 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Smo) (see all 16):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     muscle  nervous system  normal  respiratory system  skeleton 

    SMO for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMO: Smotm1Amc Smotm2.1Amc Smotm1.1Pab

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target SMO:
    hsa-mir-326 (MIRT000526), hsa-mir-324-5p (MIRT000527), hsa-mir-338-3p (MIRT006455), hsa-mir-125b-5p (MIRT000525), hsa-mir-331-3p (MIRT043390)

    Block miRNA regulation of human, mouse, rat SMO using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMO (see all 10):
    hsa-miR-300 hsa-miR-381 hsa-miR-188-3p hsa-miR-1270 hsa-miR-370 hsa-miR-620 hsa-miR-127-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidSMO 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMO
    Predesigned siRNA for gene silencing in human, mouse, rat SMO

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMO

    Clone
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    OriGene clones in human, mouse for SMO (see all 8)
    OriGene ORF clones in mouse, rat for SMO
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMO (NM_005631)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMO

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMO
    ESI BIO PureStem Progenitor for SMO: 
    PureStem 7SMOO32, NCr-fac & Meso Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMO


    (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
    SMO_HUMAN, Q99835: Membrane; Multi-pass membrane protein. Cell projection, cilium
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005794colocalizes with Golgi apparatus IDA11278759
    GO:0005886plasma membrane IDA19304771
    GO:0005901colocalizes with caveola IDA11278759
    GO:0005929cilium IBA--

    SMO 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 SMO About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Pathway0.32
    Hedgehog Signaling Pathway0.32
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    3Activation of cAMP-Dependent PKA
    Activation of PKA through GPCR0.71
    PKA Signaling0.56
    4G-Beta Gamma Signaling
    CRHR Pathway0.44
    Hedgehog Signaling in Mammals0.32
    5Basal cell carcinoma
    Basal cell carcinoma0.43
    Hedgehog signaling pathway0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMO
        Activation of PKA through GPCR
    PKA Signaling
    Molecular Mechanisms of Cancer
    CRHR Pathway
    Hedgehog Signaling in Mammals

    1 Tocris Bioscience Pathway for SMO
        Hedgehog Pathway

    1 GeneGo (Thomson Reuters) Pathway for SMO
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    5 BioSystems Pathways for SMO
        Hedgehog Signaling Pathway
    GPCRs, Other
    Integrated Pancreatic Cancer Pathway
    Signaling events mediated by the Hedgehog family
    Hedgehog signaling events mediated by Gli proteins

    1 Reactome Pathway for SMO
        Class B/2 (Secretin family receptors)


    4 Kegg Pathways  (Kegg details for SMO):
        Hedgehog signaling pathway
    Pathways in cancer
    Proteoglycans in cancer
    Basal cell carcinoma


    SMO for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMO (see all 8): 
              Angiogenic Growth Factors in human mouse rat
              Leukemia in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SMO

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

    Selected Interacting proteins for SMO (Q998353 ENSP000002493734) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTCH1Q136353, ENSP000003323534I2D: score=3 STRING: ENSP00000332353
    KIF7Q2M1P53, ENSP000003779344I2D: score=2 STRING: ENSP00000377934
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    PTCH2Q9Y6C53, ENSP000003612664I2D: score=2 STRING: ENSP00000361266
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 82):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001503ossification ----
    GO:0001570vasculogenesis IBA--
    GO:0001649osteoblast differentiation IBA--
    GO:0001701in utero embryonic development IEA--

    SMO 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 SMO
    4 ApexBio Compounds for SMO     About this table
    CompoundAction CAS #
    BMS-833923orally bioavailable small-molecule SMO (Smoothened) inhibitor[1059734-66-5]
    HhAntagA small molecule inhibitor of GLI1-mediated transcription[496794-70-8]
    LDE225 Diphosphateorally bioavailable small-molecule Smoothened (Smo) antagonist [1218778-77-8]
    PurmorphamineCell-permeable Smoothened inhibitor, activates Hedgehog pathway[483367-10-8]

    Compounds for SMO available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SMANT hydrochlorideInhibits Smoothened (Smo) accumulation[1177600-74-6]
    JervineInhibitor of Hedgehog (Hh) signaling; binds directly to Smo[469-59-0]
    GSA 10Smo receptor agonist[300833-95-8]
    MRT 10Smoothened (Smo) antagonist[330829-30-6]

    2 DrugBank Compounds for SMO    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FluocinonideFluocinolide (see all 7)356-12-7targetagonist20439738
    VismodegibGDC-0449 (see all 3)879085-55-9targetantagonist23662017

    1 Novoseek inferred chemical compound relationship for SMO gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclopamine 88.3 4 12391318 (3)



    SMO 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 SMO gene: 
    NM_005631.4  

    Unigene Cluster for SMO:

    Smoothened, frizzled family receptor
    Hs.437846  [show with all ESTs]
    Unigene Representative Sequence: NM_005631
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000249373(uc003vor.3 uc003vos.3) ENST00000462420 ENST00000495998
    ENST00000475779
    miRNA
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    Block miRNA regulation of human, mouse, rat SMO using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMO (see all 10):
    hsa-miR-300 hsa-miR-381 hsa-miR-188-3p hsa-miR-1270 hsa-miR-370 hsa-miR-620 hsa-miR-127-5p hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidSMO 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SMO
    Clone
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    OriGene ORF clones in mouse, rat for SMO
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SMO (NM_005631)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMO
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SMO
    OriGene qSTAR qPCR primer pairs in human, mouse for SMO
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMO
      QuantiTect SYBR Green Assays in human, mouse, rat SMO
      QuantiFast Probe-based Assays in human, mouse, rat SMO

    Additional mRNA sequence: 

    AF071494.1 AF089720.1 AF120103.1 AF130867.1 BC004332.1 BC009989.2 U84401.1 

    11 DOTS entries:

    DT.313365  DT.121054058  DT.95371710  DT.121054063  DT.91849969  DT.75121134  DT.86853388  DT.91655162 
    DT.91831987  DT.91832489  DT.95169949 

    Selected AceView cDNA sequences (see all 101):

    AW593101 U84401 BM714878 BE784306 AF071494 AI081895 BE785546 BX641825 
    BM725012 AW614083 BC009989 AF120103 NM_005631 H98971 AU132302 BQ774327 
    BV182837 AF130867 BM675390 AA298711 AU117827 AA070437 BE740072 CA445076 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SMO    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
    SP1:                                                  -                                       
    SP2:                                                  -     -                                 
    SP3:                                                                                          


    ECgene alternative splicing isoforms for SMO

    (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)
    About This Section

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


    SMO expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Chondrocytes Stylopod Epiphyseal End
             Bone marrow-derived mesenchymal stem cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Disc Progenitors Temporomandibular Joint
     
     Epithelial Cells
             Basal Keratinocytes Embryonic Epidermis
     
     Tooth (Integumentary System)    fully expand to see all 5 entries
             Dental Placode Cells Dental Placode
     
     Blood (Cardiovascular System)
             Primitive Hematopoietic Stem Cells Extraembryonic Blood Islands
    SMO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437846
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMO (see all 8): 
              Angiogenic Growth Factors in human mouse rat
              Leukemia in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SMO
    OriGene qSTAR qPCR primer pairs in human, mouse for SMO
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMO
    QuantiTect SYBR Green Assays in human, mouse, rat SMO
    QuantiFast Probe-based Assays in human, mouse, rat SMO
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMO

    (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.

    Orthologs for SMO gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smo1 , 5 smoothened homolog (Drosophila)1, 5 90.13(n)1
    94.08(a)1
      6 (12.36 cM)5
    3197571  NM_176996.41  NP_795970.31 
     297356945 
    chicken
    (Gallus gallus)
    Aves SMO1 smoothened, frizzled family receptor 81.2(n)
    83.69(a)
      395949  XM_414970.4  XP_414970.4 
    lizard
    (Anolis carolinensis)
    Reptilia SMO6
    smoothened, frizzled family receptor
    71(a)
    1 ↔ 1
    GL343653.1(22833-52009)
    African clawed frog
    (Xenopus laevis)
    Amphibia Smo2 smoothened 75.72(n)    AF302766.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smoh2 smoothened homolog (Drosophila) 77.65(n)   30225  AF395809.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta smo1 smoothened 53.58(n)
    44.44(a)
      33196  NM_078719.3  NP_523443.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-176
    Protein LIN-17, isoform a
    19(a)
    1 ↔ 1
    I(2706883-2717549) WBGene00003006


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMO gene
    FZD32  FZD102  FZD82  FZD12  FZD52  FZD22  FZD92  SFRP42  
    FZD42  FZD62  SFRP12  FRZB2  FZD72  SFRP52  SFRP22  
    1 SIMAP similar gene for SMO using alignment to 4 protein entries:     SMO_HUMAN (see all proteins):
    FZD6

    SMO 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 SMO (see all 675)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0078484
    Basal cell carcinoma samples4--see VAR_0078482 W L mis40--------
    VAR_0078494
    Basal cell carcinoma samples4--see VAR_0078492 R Q mis40--------
    rs1379724521,2
    C--123197397(+) TTGAT-/TGTG  
            
    TGTGT
    1 -- int10--------
    rs361261871,2
    C--123209541(+) TTATAT/-TGGAT 1 -- int13Minor allele frequency- -:0.17NA CSA 6
    rs98014421,2
    C--128217583(+) aaaaaA/Tatata 1 -- int10--------
    rs2004466951,2
    --128228646(+) CCCGT-/CTCTA 
            
    CTAAA
    1 -- int10--------
    rs614931881,2
    C--128228648(+) CGTCT-/CTACTA
            
    AAAAT
    1 -- cds10--------
    rs678005301,2
    C--128228817(+) AAAAA-/AAAG  
            
    AAGAA
    1 -- int10--------
    rs106224461,2
    C,F--128230516(+) CACAGAG/-TAGAA 1 -- int13Minor allele frequency- -:0.25NA CSA 8
    rs351436631,2
    C--128230639(+) GCTTGT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for SMO (128828713 - 128853386 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SMO:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735147CNV Deletion23290073
    nsv831127CNV Gain17160897

    1 Site Specific Mutation Identification with PCR Assay for SMO:
    Cosmic IdAA Change
    13146p.W535L
    3 Site Specific Cancer Mutation PCR Panels containing SMO:
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    Skin Cancers
    SeqTarget long-range PCR primers for resequencing SMO
    DNA2.0 Custom Variant and Variant Library Synthesis for SMO

    (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: 601500    OMIM disorders: --

    Selected diseases for SMO (see all 33):    
    About MalaCards
    basal cell carcinoma, somatic    pallister-hall syndrome    basal cell carcinoma    nevoid basal cell carcinoma syndrome
    smith-lemli-opitz syndrome    pancreatic cancer    holoprosencephaly    medulloblastoma
    primitive neuroectodermal tumor    xeroderma pigmentosum    transitional cell carcinoma    esophageal cancer
    chondrosarcoma    hyperglycemia    nasopharyngitis    endometrial carcinoma
    pancreatitis    chronic lymphocytic leukemia    thyroid cancer    hypoxia

    4 diseases from the University of Copenhagen DISEASES database for SMO:
    Basal cell carcinoma     Medulloblastoma     Nevoid basal cell carcinoma syndrome     Pancreatic cancer

    SMO for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for SMO gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma basal cell 71.9 6 11133163 (1), 9581815 (1), 14634745 (1), 17214858 (1) (see all 6)
    medulloblastoma 60.1 4 18288402 (2), 19701203 (1), 18502968 (1)
    somatic mutations 41.5 3 17332280 (1), 15488029 (1), 15656799 (1)
    pancreatic cancer 37.1 6 16804411 (2), 16826192 (2), 20215540 (1)
    tumors 30.6 29 12241103 (3), 16804411 (2), 10504535 (2), 16339184 (2) (see all 10)
    cancer 15.9 2 19304771 (1)
    carcinoma 6.35 1 16330160 (1)

    Genetic Association Database (GAD): SMO
    Human Genome Epidemiology (HuGE) Navigator: SMO (10 documents)

    Export disorders for SMO 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 SMO gene, integrated from 10 sources (see all 112):
    (articles sorted by number of sources associating them with SMO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PubMed id 19401682)1, 4 Maestrini E....Monaco A.P. (Mol. Psychiatry 2010)
    2. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    3. The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. (PubMed id 19592253)1, 2 Endoh-Yamagami S....Peterson A.S. (Curr. Biol. 2009)
    4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    5. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    6. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    7. Genetic mutations associated with cigarette smoking in pancreatic cancer. (PubMed id 19351817)1, 4 Blackford A....Hruban R.H. (Cancer Res. 2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Chromosomal localization of the human smoothened gene (SMOH) to 7q32. 3 by fluorescence in situ hybridization and radiation hybrid mapping. (PubMed id 9628830)1, 3 Sublett J.E....Reardon D.A. (Genomics 1998)
    10. Activating Smoothened mutations in sporadic basal-cell carcinoma. (PubMed id 9422511)1, 2 Xie J....de Sauvage F.J. (Nature 1998)

    (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: 6608 HGNC: 11119 AceView: SMO Ensembl:ENSG00000128602 euGenes: HUgn6608
    ECgene: SMO Kegg: 6608 H-InvDB: SMO

    (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 SMO Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMO Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMO gene:
    Search GeneIP for patents involving SMO

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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