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

SMO Gene

protein-coding   GIFtS: 69
GCID: GC07P128828

Smoothened, Frizzled Family 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)
About This Section

Aliases
Smoothened, Frizzled Family Receptor1 2     Smoothened Homolog (Drosophila)1
SMOH1 2 3 5     FZD112
Smoothened, Seven Transmembrane Spanning Receptor1 2     Gx2
Frizzled Family Member 111 2     Seven Transmembrane Helix Receptor2
Protein Gx2 3     Smoothened Homolog2
Smoothened (Drosophila) Homolog1     

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

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 family receptor) is a protein-coding gene. Diseases associated with SMO include basal cell carcinoma, somatic, and pallister-hall syndrome, and among its related super-pathways are Hedgehog Pathway and GPCR downstream signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SMO

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: SMO_HUMAN, Q99835 (See protein sequence)
Recommended Name: Smoothened homolog precursor  
Size: 787 amino acids; 86397 Da
Subunit: Interacts with ARRB2 (By similarity). Interacts with KIF7
Subcellular location: Membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for SMO:
4JKV (3D)    

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

Explore proteomics data for SMO at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99835

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

    SMO Protein Expression
    REFSEQ proteins: NP_005622.1  
    ENSEMBL proteins: 
     ENSP00000249373   ENSP00000418720   ENSP00000420749  
    Reactome Protein details: Q99835
    Human Recombinant Protein Products for SMO: 
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    OriGene Protein Over-expression Lysate for SMO
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    Novus Biologicals SMO Proteins
    Novus Biologicals SMO Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMO 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    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



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    Cloud-Clone Corp. CLIAs for SMO


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

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

    5 InterPro protein domains:
     IPR026544 SMO
     IPR000539 Frizzled
     IPR015526 Frizzled/SFRP
     IPR020067 Frizzled_dom
     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,
    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: 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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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:0005119smoothened binding ----
    GO:0005515protein binding IPI19592253
         
    SMO for ontologies           About GeneDecksing


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

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

    SMO for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMO 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    miRTarBase miRNAs that target SMO:
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMO
    8/10 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of SMO 
                         Customized lentivirus expression plasmids for stable overexpression of SMO 

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


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

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    Hedgehog Pathway0.32
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    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
    Hedgehog signaling pathway0.43
    Basal cell carcinoma0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SMO
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    5 Downloadable PowerPoint Slides of QIAGEN 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
    Hedgehog signaling events mediated by Gli proteins
    Signaling events mediated by the Hedgehog family

    4        Reactome Pathways for SMO
        Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/17 Interacting proteins for SMO (Q998353 ENSP000002493734) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTCH1Q136353, ENSP000003323534I2D: score=3 STRING: ENSP00000332353
    PTCH2Q9Y6C53, ENSP000003612664I2D: score=2 STRING: ENSP00000361266
    BCL6P411823, ENSP000002320144I2D: score=2 STRING: ENSP00000232014
    DYNLL2Q96FJ23I2D: score=5 
    RPS21P632203I2D: score=5 
    About this table

    Gene Ontology (GO): 5/81 biological process terms (GO ID links to tree view) (see all 81):    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 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

    SMO for compounds           About GeneDecksing

    EMD Millipore small molecules for SMO:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for SMO

    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)

    Search CenterWatch for drugs/clinical trials and news about SMO

    (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 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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    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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    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 

    24/101 AceView cDNA sequences (see all 101):

    U84401 BX641825 BM725012 BE785546 AF071494 BM714878 AI081895 H98971 
    BE784306 AU132302 AF120103 AW614083 NM_005631 AW593101 BC009989 AA377764 
    AI751900 BV182837 AI056937 BM695194 AI807682 BU845864 BX101123 BP375963 

    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™, 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

    SMO expression in normal human tissues (normalized intensities)      SMO embryonic expression: see
    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 
     5/13 selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 14 entries
             Immature Endochondral Osteoblasts Stylopod Periosteum
             Bone marrow-derived mesenchymal stem cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Chondrocytes Nasal Capsule
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Zigzag Dermal Papilla Cells Dermal Papilla

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

    SOURCE GeneReport for Unigene cluster: Hs.437846
        SABiosciences Expression via Pathway-Focused 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

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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMO gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smo1 , 5 smoothened homolog (Drosophila)1, 5 89.88(n)1
    93.52(a)1
      6 (12.36 cM)5
    3197571  NM_176996.41  NP_795970.31 
     297356945 
    chicken
    (Gallus gallus)
    Aves SMO1 smoothened, frizzled family receptor 81.24(n)
    83.92(a)
      395949  XM_414970.3  XP_414970.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMO6
    Uncharacterized protein
    70(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 53.62(n)
    44.52(a)
      33196  NM_078719.2  NP_523443.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lin-176
    mig-16
    Protein MIG-1, isoform a
    16(a)
    13(a)
    possible ortholog
    possible ortholog
    I(2706883-2717549)
    I(948566-957373)


    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)
    About This Section
    Paralogs for SMO gene
    FZD32  FZD102  FZD82  FZD12  FZD52  FZD22  FZD92  SFRP42  
    FZD42  FZD62  SFRP12  FRZB2  SFRP52  FZD72  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) 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

    10/675 SNPs in SMO are shown (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 SABiosciences Cancer Mutation PCR Assay for SMO:
    Cosmic IdAA Change
    13146p.W535L
    3 SABiosciences Cancer Mutation PCR Arrays 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601500    OMIM disorders: --

    20/29 diseases for SMO (see all 29):    About MalaCards
    basal cell carcinoma, somatic    pallister-hall syndrome    nevoid basal cell carcinoma syndrome    basal cell carcinoma
    smith-lemli-opitz syndrome    pancreatic cancer    medulloblastoma    holoprosencephaly
    primitive neuroectodermal tumor    xeroderma pigmentosum    transitional cell carcinoma    chondrosarcoma
    esophageal cancer    nasopharyngitis    hyperglycemia    endometrial carcinoma
    chronic lymphocytic leukemia    hypoxia    pancreatitis    esophagitis

    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)
    About This Section

    PubMed articles for SMO gene, integrated from 9 sources (see all 105):
    (articles sorted by number of sources associating them with SMO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (2010)
    2. The mammalian Cos2 homolog Kif7 plays an essential ro le in modulating Hh signal transduction during development. (PubMed id 19592253)1, 2 Endoh-Yamagami S....Peterson A.S. (2009)
    3. 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. (2009)
    4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (2009)
    5. 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. (2009)
    6. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)
    7. Genetic mutations associated with cigarette smoking in pancreatic cancer. (PubMed id 19351817)1, 4 Blackford A....Hruban R.H. (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. (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. (1998)
    10. Activating Smoothened mutations in sporadic basal-cell carcinoma. (PubMed id 9422511)1, 2 Xie J....de Sauvage F.J. (1998)

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

    (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 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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Regulatory tfbs in SMO promoter
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     Proteins for SMO
     Antibodies for SMO
     ELISAs for SMO
     CLIAs for SMO
     Cell Line associated with SMO: PureStem 7SMOO32, NCr-fac & Meso Progenitor
     Gene Synthesis
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     Variant Library Synthesis
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMO
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     ThermoFisher Antibodies for SMO
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMO
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SMO
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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