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Aliases for SMO Gene

Aliases for SMO Gene

  • Smoothened, Frizzled Class Receptor 2 3 5
  • Smoothened, Seven Transmembrane Spanning Receptor 2 3
  • Smoothened, Frizzled Family Receptor 2 3
  • Frizzled Family Member 11 2 3
  • Protein Gx 3 4
  • SMOH 3 4
  • Seven Transmembrane Helix Receptor 3
  • Smoothened (Drosophila) Homolog 2
  • Smoothened Homolog (Drosophila) 2
  • Smoothened Homolog 3
  • FZD11 3
  • CRJS 3
  • Gx 3

External Ids for SMO Gene

Previous HGNC Symbols for SMO Gene

  • SMOH

Previous GeneCards Identifiers for SMO Gene

  • GC07P127306
  • GC07P128368
  • GC07P128382
  • GC07P128422
  • GC07P128615
  • GC07P128828
  • GC07P123189

Summaries for SMO Gene

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]

CIViC summary for SMO Gene

GeneCards Summary for SMO Gene

SMO (Smoothened, Frizzled Class Receptor) is a Protein Coding gene. Diseases associated with SMO include Craniofacial Malformations, Asymmetric, With Polysyndactyly And Abnormal Skin And Gut Development and Basal Cell Carcinoma 1. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Presynaptic function of Kainate receptors. GO annotations related to this gene include G-protein coupled receptor activity and PDZ domain binding. An important paralog of this gene is FZD6.

UniProtKB/Swiss-Prot for SMO Gene

  • G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehogs 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.

Tocris 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 patched (Ptc).

Gene Wiki entry for SMO Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMO Gene

Genomics for SMO Gene

Regulatory Elements for SMO Gene

Enhancers for SMO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G129091 1.2 Ensembl ENCODE 13.1 -97.3 -97251 1.0 HDGF FOXA2 PKNOX1 ARNT ARID4B GATA2 ELK1 ZNF143 DEK REST TNPO3 SMO TSPAN33 TPI1P2 IRF5 ENSG00000241102 ENSG00000242162
GH07G129066 1.3 Ensembl ENCODE 10.2 -121.7 -121665 2.4 HDGF PKNOX1 ARNT YY1 ZNF766 FOS SP3 REST ZNF592 MEF2D ENSG00000243230 RBM28 ENSG00000272601 AHCYL2 SMO IMP3P2 ENSG00000241493 FAM71F2 ENSG00000242162 ENSG00000241102
GH07G129089 0.7 Ensembl 13.6 -99.0 -98989 0.6 CEBPG ARID3A POLR2A EGR1 EED ETV6 IKZF2 CREM SRF MTA2 TNPO3 SMO TPI1P2 ENSG00000242162 KCP TSPAN33 CCDC136 ENSG00000243679 ENSG00000241102
GH07G128707 0.8 ENCODE 10.1 -480.2 -480223 1.3 YBX3 ZSCAN4 GLI4 RAD21 ZNF366 POLR2A ZNF26 NR2F6 BCLAF1 EZH2 CICP14 RBM28 ENSG00000243230 METTL2B ENSG00000272601 SMO FAM71F1 RNA5SP243
GH07G129306 0.7 ENCODE 10.2 +119.0 119047 2.2 CTCF AGO1 CEBPG ZIC2 RAD21 ZFHX2 GLIS2 POLR2A FOS PCBP1 ENSG00000243230 SMO SMKR1 LOC105375500 GC07M129240
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMO on UCSC Golden Path with GeneCards custom track

Promoters for SMO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SMO Gene

129,188,872 bp from pter
129,213,546 bp from pter
24,675 bases
Plus strand

Genomic View for SMO Gene

Genes around SMO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMO Gene

Proteins for SMO Gene

  • Protein details for SMO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Smoothened homolog
    Protein Accession:
    Secondary Accessions:
    • A4D1K5

    Protein attributes for SMO Gene

    787 amino acids
    Molecular mass:
    86397 Da
    Quaternary structure:
    • Homodimer. 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.

    Three dimensional structures from OCA and Proteopedia for SMO Gene

neXtProt entry for SMO Gene

Post-translational modifications for SMO Gene

  • Glycosylation at isoforms=35, isoforms=188, and Asn309
  • Modification sites at PhosphoSitePlus

Other Protein References for SMO Gene

No data available for DME Specific Peptides for SMO Gene

Domains & Families for SMO Gene

Gene Families for SMO Gene

Protein Domains for SMO Gene

Suggested Antigen Peptide Sequences for SMO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the G-protein coupled receptor Fz/Smo family.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
genes like me logo Genes that share domains with SMO: view

Function for SMO Gene

Molecular function for SMO Gene

UniProtKB/Swiss-Prot Function:
G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehogs 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) - Molecular Function for SMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IEA --
GO:0005113 patched binding IPI 9811851
GO:0005515 protein binding IPI 19592253
genes like me logo Genes that share ontologies with SMO: view
genes like me logo Genes that share phenotypes with SMO: view

Human Phenotype Ontology for SMO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMO Gene

MGI Knock Outs for SMO:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SMO
  • Applied Biological Materials Clones for SMO

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMO Gene

Localization for SMO Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMO Gene

Membrane; Multi-pass membrane protein. Cell projection, cilium.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMO gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2

Gene Ontology (GO) - Cellular Components for SMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 colocalizes_with Golgi apparatus IDA 11278759
GO:0005886 plasma membrane IDA 19304771
GO:0005901 colocalizes_with caveola IDA 11278759
GO:0005929 cilium TAS 21931618
genes like me logo Genes that share ontologies with SMO: view

Pathways & Interactions for SMO Gene

genes like me logo Genes that share pathways with SMO: view

SIGNOR curated interactions for SMO Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001503 ossification IEA --
GO:0001570 vasculogenesis IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with SMO: view

Drugs & Compounds for SMO Gene

(27) Drugs for SMO Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
vismodegib Approved Pharma other, Antagonist, Target Other, Hedgehog antagonists 0
Fluocinonide Approved, Investigational Pharma Target, agonist 9
Halcinonide Approved, Investigational, Withdrawn Pharma Target, agonist, activator 0
Sonidegib Approved, Investigational Pharma Target, antagonist 0
Erivedge Approved January 2012 Pharma 0

(1) Additional Compounds for SMO Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PF 5274857 hydrochloride

(5) Tocris Compounds for SMO Gene

Compound Action Cas Number
GSA 10 Smo receptor agonist 300833-95-8
Itraconazole SMO antagonist; acts at different binding site to cyclopamine (Cat No. 1623) 84625-61-6
PF 5274857 hydrochloride High affinity and selective Smoothened (Smo) receptor antagonist 1613439-62-5
Purmorphamine Smo receptor agonist 483367-10-8
SAG Potent Smoothened receptor agonist; activates the Hedgehog signaling pathway 912545-86-9

(14) ApexBio Compounds for SMO Gene

Compound Action Cas Number
BMS-833923 Smoothened inhibitor 1059734-66-5
Cyclopamine Hedgehog (Hh) signaling Inhibitor 4449-51-8
GSA 10 300833-95-8
HhAntag GLI1-mediated transcription inhibitor 496794-70-8
LDE225 (NVP-LDE225,Erismodegib) Smoothened inhibitor,potent and selective 956697-53-3
LDE225 Diphosphate Smo antagonist 1218778-77-8
LY2940680 Hedgehog/SMO antagonist,inhibits Hh signaling 1258861-20-9
M 25
MRT 10 330829-30-6
PF-04449913 Antagonist of smoothened 1095173-27-5
PF-5274857 Smo antagonist,potent and selective 1373615-35-0
Purmorphamine Hedgehog agonist 483367-10-8
SAG Hh and Smo agonist 912545-86-9
SMANT hydrochloride 1177600-74-6
genes like me logo Genes that share compounds with SMO: view

Drug Products

Transcripts for SMO Gene

Unigene Clusters for SMO Gene

Smoothened, frizzled family receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SMO
  • Applied Biological Materials Clones for SMO

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

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

Relevant External Links for SMO Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SMO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMO Gene

This gene is overexpressed in Urine (49.7) and Pancreatic juice (19.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SMO Gene

Protein tissue co-expression partners for SMO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMO Gene:


SOURCE GeneReport for Unigene cluster for SMO Gene:


Evidence on tissue expression from TISSUES for SMO Gene

  • Nervous system(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with SMO: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMO Gene

Orthologs for SMO Gene

This gene was present in the common ancestor of animals.

Orthologs for SMO Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SMO 34 35
  • 98.94 (n)
(Monodelphis domestica)
Mammalia SMO 35
  • 94 (a)
(Ornithorhynchus anatinus)
Mammalia SMO 35
  • 94 (a)
(Canis familiaris)
Mammalia SMO 34 35
  • 92.22 (n)
(Bos Taurus)
Mammalia SMO 34 35
  • 92.1 (n)
(Mus musculus)
Mammalia Smo 34 16 35
  • 90.13 (n)
(Rattus norvegicus)
Mammalia Smo 34
  • 89.52 (n)
(Gallus gallus)
Aves SMO 34 35
  • 81.2 (n)
(Anolis carolinensis)
Reptilia SMO 35
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia smo 34
  • 70.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia Smo 34
(Danio rerio)
Actinopterygii smo 34 35
  • 68.82 (n)
smoh 34
African malaria mosquito
(Anopheles gambiae)
Insecta GPRSMO 34
  • 55.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta smo 34 35
  • 53.58 (n)
(Caenorhabditis elegans)
Secernentea lin-17 35
  • 19 (a)
Species where no ortholog for SMO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMO Gene

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

Paralogs for SMO Gene

Paralogs for SMO Gene

(1) SIMAP similar genes for SMO Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SMO: view

Variants for SMO Gene

Sequence variations from dbSNP and Humsavar for SMO Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121918347 Pathogenic, Basal cell carcinoma 129,210,500(+) CACCT(G/T)GGTCT reference, missense
rs121918348 Pathogenic, Basal cell carcinoma samples 129,210,997(+) AAAGC(A/G)GATCA reference, missense
VAR_077087 Curry-Jones syndrome (CRJS) [MIM:601707]
rs879255280 Pathogenic 129,206,557(+) TGGTG(C/T)TCATC reference, missense
rs111694017 untested 129,205,670(+) TCTAC(A/G)TCAAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SMO Gene

Variant ID Type Subtype PubMed ID
esv2735147 CNV deletion 23290073
esv3614995 CNV loss 21293372
nsv831127 CNV gain 17160897

Variation tolerance for SMO Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMO Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMO Gene

Disorders for SMO Gene

MalaCards: The human disease database

(7) MalaCards diseases for SMO Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
  • curry jones syndrome
basal cell carcinoma 1
  • basal cell carcinoma, somatic
  • medulloblastoma, desmoplastic
basal cell carcinoma
  • basal cell cancer
keratocystic odontogenic tumor
  • ktoc
- elite association - COSMIC cancer census association via MalaCards
Search SMO in MalaCards View complete list of genes associated with diseases


  • Curry-Jones syndrome (CRJS) [MIM:601707]: A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. {ECO:0000269 PubMed:24859340, ECO:0000269 PubMed:27236920}. Note=The disease is caused by mutations affecting the gene represented in this entry. 8 individuals have been identified with the disease-causing mutation Phe-412 and all were mosaic. The mutation could not be reliably detected in blood, greatest success rates were obtained with affected tissues obtained by invasive procedures. It is thought that the mutation has arisen postzygotically early during embryonic development (PubMed:27236920). This mutation has also been identified in ameloblastoma, medulloblastoma, meningioma, and basal cell carcinoma, and has been reported as the oncogenic driver in some of these tumors (PubMed:24859340). {ECO:0000269 PubMed:24859340, ECO:0000269 PubMed:27236920}.

Relevant External Links for SMO

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SMO: view

No data available for Genatlas for SMO Gene

Publications for SMO Gene

  1. A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome. (PMID: 27236920) Twigg S.R. … Wilkie A.O. (Am. J. Hum. Genet. 2016) 3 4 64
  2. Identification of recurrent SMO and BRAF mutations in ameloblastomas. (PMID: 24859340) Sweeney R.T. … West R.B. (Nat. Genet. 2014) 3 4 64
  3. Structure of the human smoothened receptor bound to an antitumour agent. (PMID: 23636324) Wang C. … Stevens R.C. (Nature 2013) 3 4 64
  4. Overexpression of smoothened activates the sonic hedgehog signaling pathway in pancreatic cancer-associated fibroblasts. (PMID: 20215540) Walter K. … Goggins M. (Clin. Cancer Res. 2010) 3 22 64
  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. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64

Products for SMO Gene

  • Addgene plasmids for SMO

Sources for SMO Gene

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