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SMO Gene

protein-coding   GIFtS: 65

GC07P128615
smoothened homolog (Drosophila)
(Previous name: smoothened (Drosophila) homolog )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SMOH)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
Gx 2
SMOH 2, 3, 5
smoothened 2
Descriptions
Gx protein 3
seven transmembrane helix receptor 2
smoothened (Drosophila) homolog 1
smoothened homolog (Drosophila) 2
External Ids
HGNC: 111191
Entrez Gene: 66082
UniProtKB: Q998353
Ensembl: ENSG000001286027
Search outside databases for aliases for SMO gene

Previous GC identifers: GC07P127306 GC07P128368 GC07P128382 GC07P128422

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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)

Gene Wiki entry for SMO (Smoothened)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SMO gene  

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)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128615:     (about GC identifiers)

Start:
128,615,949 bp from pter
End:
128,640,622 bp from pter
Size:
24,674 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 128,212,668-128,237,345     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SMO_HUMAN, Q99835 (See protein sequence)
Recommended Name: Smoothened homolog precursor  
Size: 787 amino acids; 86397 Da
Subcellular location: Membrane; Multi-pass membrane protein

REFSEQ proteins: NP_005622.1  

ENSEMBL proteins: 
ENSP00000249373 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Smoothened)
Human Recombinant Proteins from Abnova (SMO)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005929 cilium IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane TAS9422511
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Antibodies for SMO: 
Browse Antibodies Central at Invitrogen
Millipore Mono- and Polyclonal Antibodies for the study of SMO
Sigma-Aldrich Antibodies for SMO
Browse R&D Systems for Antibodies
Antibodies from Abcam (Smoothened), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (SMO)
Novus Biologicals Antibodies for SMO

Assays for SMO: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro domains/families:
 IPR000539 Frizzled
 IPR015526 Frizzled_related
 IPR000024 Frizzled_Cys-rich
 IPR017981 GPCR_2-like


   GeneDecks  SMO for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q99835

ProtoNet protein and cluster: Q99835

1 Blocks protein family: 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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SMO)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SMO)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005631

              Applied Biosystems Silencer® siRNAs for SMO

              Sigma-Aldrich siRNA and siRNA Panels for SMO  
                     Sigma-Aldrich shRNA Panels and shRNA for SMO  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for SMO
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005631
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005631
                                 untagged cDNA clone in CMV expression vector: NM_005631 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005631

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)

15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Smo):

craniofacialdigestive/alimentaryembryogenesisgrowth/size
hearing/vestibular/earhomeostasis/metabolismlethality-postnatallethality-prenatal/perinatallimbs/digits/tail
nervous systemno phenotypic analysisnormalrespiratory systemskeleton

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004926 non-G-protein coupled 7TM receptor activity IEA--
GO:0004930 G-protein coupled receptor activity IEA--
GO:0005515 protein binding TAS8906787
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Invitrogen iPath™ Online BioAtlas - Pathway for SMO (Maps provided by GeneGo):
 Hedgehog and PTH signaling pathways participation in bone and cartilage development

   GeneDecks  SMO for the pathways selected above  
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1 Millipore Pathway for SMO
 Development Hedgehog and PTH signaling pathways in bone and cartilage development

   GeneDecks  SMO for the pathways selected above  
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5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for  SMO  (Your Favorite Gene powered by Ingenuity) (see all 9
 Molecular Mechanisms of Cancer
 Wnt/&beta
 Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
 Factors Promoting Cardiogenesis in Vertebrates
 Axonal Guidance Signaling

   GeneDecks  SMO for the pathways selected above  
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3 Kegg Pathways  (Kegg details for SMO):
 hsa04340 Hedgehog signaling pathway
 hsa05200 Pathways in cancer
 hsa05217 Basal cell carcinoma

   GeneDecks  SMO for the pathways selected above  
About GeneDecksing
 Gene Network CentralTM Interacting Genes and Proteins Network for  SMO 


5/32 Interacting proteins for SMO (ENSP000002493733) via UniProtKB, MINT, and/or STRING (see all 32 )
InteractantInteraction Details
GeneCardExternal ID(s)
PTCH1ENSP000003323533STRING (score=.999)
GLI1ENSP000002286823STRING (score=.996)
SHHENSP000002972613STRING (score=.996)
ADRBK1ENSP000003122623STRING (score=.992)
GLI2ENSP000003545863STRING (score=.992)
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5/18 Gene Ontology (GO) biological process terms (links to tree view) (see all 18 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001570 vasculogenesis IEA--
GO:0001649 osteoblast differentiation IEA--
GO:0001755 neural crest cell migration IEA--
GO:0002052 positive regulation of neuroblast proliferation IEA--
GO:0003007 heart morphogenesis IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Enzo Life Sciences drugs & compounds for SMO
Browse Small Molecules at Sigma-Aldrich

Compounds for SMO available from Tocris Bioscience
CompoundAction CAS number
SANT-1Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity[304909-07-7]
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1 Novoseek chemical compound relationship for SMO gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
cyclopamine 89.82 4 12391318 (3)
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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SMO)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SMO)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005631

              Sigma-Aldrich siRNA and siRNA Panels for SMO  
                     Sigma-Aldrich shRNA Panels and shRNA for SMO  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005631  

REFSEQ mRNAs for SMO gene: 

NM_005631.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005631  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005631
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005631
                                 untagged cDNA clone in CMV expression vector: NM_005631 

Additional cDNA sequence: 

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

6 DOTS entries:

DT.313365  DT.121054058  DT.95371710  DT.121054063  DT.75121134  DT.86853388 

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

AW614083 AI081895 NM_005631 BC009989 BM725012 U84401 AF071494 BE785546 
AU132302 BX641825 BE784306 AW593101 H98971 AF120103 BM714878 R71695 
BU726335 AI820024 BM680230 BV182837 AI885759 AI422943 CA445076 AI140041 

highest scoring ESTs for SMO:

U84401 AA070437 AA377764 AA448522 AA524933 AA738463 AF065155 AF071494 AF120103 AF130867 

Unigene Cluster for SMO:

Smoothened homolog (Drosophila)
Hs.437846  [show with all ESTs]
Unigene Representative Sequence: NM_005631


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for SMO

1 Ensembl transcript including schematic representation:
ENST00000249373  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SMO expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for SMO

1 / 2 / 3

4 probe-sets matching SMO gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
49344_at2, 3 U95-B 1 1.00 1.00 0.89 1.33 AF065155 0.80 1.00 0.91 1

32960_at2, 3 U95-A 1 1.00 1.00 0.11 0.69 U84401 1.00 1.00 1.00 1

218629_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005631 0.60 1.00 0.82 1

218629_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  SMO for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTCCCAAGGC

SOURCE GeneReport for Unigene cluster: Hs.437846

Expression variation in blood from EXPOLDB for SMO

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for SMO gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
SMO1   -- smoothened homolog (Drosophila) 92.32(n)
96.9(a)
482262  XM_539381.2  XP_539381.2 
chimpanzee
(Pan troglodytes)
SMO1   -- smoothened homolog (Drosophila) 99.41(n)
99.11(a)
463718  XM_519371.2  XP_519371.2 
cow
(Bos taurus)
SMO1   -- smoothened homolog (Drosophila) 92.31(n)
96.26(a)
539308  XM_586374.3  XP_586374.1 
rat
(Rattus norvegicus)
Smo1   -- smoothened homolog (Drosophila) 89.5(n)
93.65(a)
25273  NM_012807.1  NP_036939.1 
mouse
(Mus musculus)
Smo1, 5 6 (7.20 cM)5
smoothened homolog (Drosophila)1, 5 89.92(n)1
93.39(a)1
3197571  NM_176996.31  NP_795970.21 
 AA0029905  AF0897215  (see all 22)
About this table        Species with no ortholog for SMO

ENSEMBL Gene Tree for SMO
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for SMO gene
SFRP12  SFRP52  SFRP22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/191 NCBI SNPs in SMO are shown (see all 191 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 47)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 7 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs96071,2
A,C,F,H128640293(+) GGTTCG/AGCTCT 1 -- ut3113Minor allele frequency- A:0.28MN NA EU EA WA 1342
rs10612801,2
A,C,F,H128640359(+) GCATCA/GTCTCT 1 -- ut318Minor allele frequency- G:0.21MN NA EU EA WA 736
rs69627401,2
A,C,F,H128614047(+) agcacG/Caggag 1 -- ng514Minor allele frequency- C:0.23EU EA WA 418
rs10612851,2
A,C,F128640544(+) TCAGAC/AAGCAG 1 -- ut31 ese31Minor allele frequency- A:0.27MN 184
rs38241,2
C,F,H128640089(+) CATGTC/GCTCTC 1 -- ut31 ese314Minor allele frequency- N:0.00MN EA NA EU WA 2736
rs27030981,2
C,F,H128640149(+) CTTCTC/TCTGTT 1 -- ut31 ese3 trp34Minor allele frequency- T:0.05EU EA WA 420
rs20757801,2
C,F128639617(+) GATCCC/TGTCTT 1 -- ut31 ese35Minor allele frequency- T:0.21EA NA 2498
rs10612821,2
F128640428(+) GCTGCC/TGTAGC 1 -- ut31 ese31Minor allele frequency- T:0.28MN 184
rs10612831,2
F128640539(+) AAGAAT/GCAGAC 1 -- ut311Minor allele frequency- G:0.02MN 184
rs177108911,2
H128636425(+) TCTACG/CACTTC 1 H/D mis1 ese37Minor allele frequency- C:0.00NA EU EA WA 544
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HapMap Linkage Disequilibrium images for SMO (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 601500

UniProtKB/Swiss-Prot: SMO_HUMAN, Q99835

  • Defects in SMO are involved in basal cell carcinoma (BCC)
  • 7 Novoseek disease relationships for SMO gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma basal cell 73.53 6 11133163 (1), 9581815 (1), 14634745 (1), 17214858 (1) (see all 6)
    medulloblastoma 56.90 3 18288402 (2), 18502968 (1)
    somatic mutations 43.71 3 17332280 (1), 15488029 (1), 15656799 (1)
    pancreatic cancer 31.70 4 16804411 (2), 16826192 (2)
    tumors 26.51 26 12241103 (3), 16804411 (2), 10504535 (2), 16339184 (2) (see all 9)
    cancer 3.17 2 19304771 (1)
    carcinoma 0.00 1 16330160 (1)
    About this table

    Human Genome Epidemiology Navigator: SMO (4 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/60 PubMed articles for SMO gene (see all 60 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 6608 HGNC: 11119 AceView: SMO Ensembl:ENSG00000128602 euGenes: HUgn6608
    ECgene: SMO H-InvDB: SMO
    (According to HUGE)
    About This Section

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

    NameDescription
    ATLAS Chromosomes in Cancer entry for SMO Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SMO:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SMO-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for SMO Antibodies for SMO
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SMO Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
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     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
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     Recombinant & Natural Proteins  

     Recombinant Proteins (SMO)
     Antibodies (SMO)
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     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (Smoothened)
     Antibodies (Smoothened)
     Search OriGene for SMO
     Tocris compounds for SMO




     Drugs for SMO
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for SMO

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