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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 Curry-Jones Syndrome, Somatic Mosaic and Basal Cell Carcinoma 1. Among its related pathways are Hedgehog Pathway 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 FZD3.

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, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).

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

Additional gene information 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
GH07H128522 1.5 Ensembl ENCODE dbSUPER 13.4 -665.2 -665202 1.5 HDGF PKNOX1 ATF1 ARNT FEZF1 TCF12 GLIS2 FOS ATF7 ZNF662 RBM28 ENSG00000273270 CICP14 ENSG00000243230 METTL2B SMO ENSG00000242588 ENSG00000271553 ENSG00000243679 GC07P128614
GH07H129053 1.2 ENCODE 13.3 -134.1 -134068 2.9 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A MEF2D ZNF610 ENSG00000242588 ENSG00000243302 ENSG00000243679 ENSG00000230715 RPS10P15 ENSG00000243230 RBM28 ENSG00000229413 CDC26P1 NRF1
GH07H129091 1.2 Ensembl ENCODE 13.1 -97.3 -97251 1 HDGF FOXA2 ARNT ARID4B ELK1 ZNF143 RUNX3 DEK ZC3H11A REST TNPO3 SMO TSPAN33 TPI1P2 IRF5 ENSG00000241102 ENSG00000242162
GH07H129089 0.7 Ensembl 13.6 -99.0 -98989 0.6 CEBPG BATF POLR2A EED ETV6 RUNX3 IKZF2 CREM SRF NR2F1 TNPO3 OPN1SW SMO CALU TPI1P2 ENSG00000242162 KCP TSPAN33 FLNC CCDC136
GH07H128707 0.8 ENCODE 10.1 -480.2 -480223 1.3 YBX3 GLI4 ZNF366 POLR2A ZNF26 ATF7 ZBTB2 RNF2 CEBPB ZNF311 CICP14 RBM28 ENSG00000243230 METTL2B ENSG00000272601 SMO NRF1 FAM71F1 RNA5SP243
- 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
ENSR00000217832 128 1601 ARID4B DMAP1 ZNF2 ETS1 GLIS2 KLF7 SP3 SP5 YY2 REST

Genomic Locations for SMO Gene

Genomic Locations for SMO Gene
chr7:129,188,872-129,213,546
(GRCh38/hg38)
Size:
24,675 bases
Orientation:
Plus strand
chr7:128,828,713-128,853,386
(GRCh37/hg19)

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:
    Q99835-SMO_HUMAN
    Recommended name:
    Smoothened homolog
    Protein Accession:
    Q99835
    Secondary Accessions:
    • A4D1K5

    Protein attributes for SMO Gene

    Size:
    787 amino acids
    Molecular mass:
    86397 Da
    Quaternary structure:
    • Homodimer (PubMed:23636324). Interacts with ARRB2 (By similarity). Interacts with KIF7 (PubMed:19592253). Interacts with BBS5 and BBS7; the interactions are indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO (PubMed:22072986). Interacts with DLG5 and SDCBP (By similarity).

    Three dimensional structures from OCA and Proteopedia for SMO Gene

neXtProt entry for SMO Gene

Post-translational modifications for SMO Gene

  • Glycosylation at Asn35, isoforms=188, and isoforms=309
  • 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SMO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99835

UniProtKB/Swiss-Prot:

SMO_HUMAN :
  • Belongs to the G-protein coupled receptor Fz/Smo family.
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, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).

Phenotypes From GWAS Catalog for SMO Gene

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 IBA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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

COMPARTMENTS
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 IEA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMO Gene

Pathways & Interactions for SMO Gene

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

SIGNOR curated interactions for SMO Gene

Activates:
Inactivates:
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, 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:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for SMO Gene

Compound Action Cas Number
GSA 10 Smo receptor agonist 300833-95-8
M 25 Potent Smoothened (Smo) receptor antagonist
MRT 10 Smoothened (Smo) antagonist 330829-30-6
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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: - -
SP3:

Relevant External Links for SMO Gene

GeneLoc Exon Structure for
SMO
ECgene alternative splicing isoforms for
SMO

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:

SMO

SOURCE GeneReport for Unigene cluster for SMO Gene:

Hs.437846

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

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
chimpanzee
(Pan troglodytes)
Mammalia SMO 33 34
  • 98.94 (n)
oppossum
(Monodelphis domestica)
Mammalia SMO 34
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMO 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMO 33 34
  • 92.22 (n)
cow
(Bos Taurus)
Mammalia SMO 33 34
  • 92.1 (n)
mouse
(Mus musculus)
Mammalia Smo 33 16 34
  • 90.13 (n)
rat
(Rattus norvegicus)
Mammalia Smo 33
  • 89.52 (n)
chicken
(Gallus gallus)
Aves SMO 33 34
  • 81.2 (n)
lizard
(Anolis carolinensis)
Reptilia SMO 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smo 33
  • 70.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia Smo 33
zebrafish
(Danio rerio)
Actinopterygii smo 33 34
  • 68.82 (n)
smoh 33
African malaria mosquito
(Anopheles gambiae)
Insecta GPRSMO 33
  • 55.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta smo 33 34
  • 53.58 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-17 34
  • 19 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SMO (if available)
TreeFam:
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
rs879255280 Pathogenic, Curry-Jones syndrome (CRJS) [MIM:601707] 129,206,557(+) TGGTG(C/T)TCATC reference, missense
rs111694017 untested 129,205,670(+) TCTAC(A/G)TCAAT reference, missense
rs112783338 untested 129,212,314(+) CCAGT(A/C/T)CCCCT reference, missense

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

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

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)
SMO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMO

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: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
curry-jones syndrome, somatic mosaic
  • curry jones syndrome
basal cell carcinoma 1
  • basal cell carcinoma, somatic
basal cell carcinoma
  • basal cell cancer
medulloblastoma
  • medulloblastoma, somatic
ameloblastoma
  • adenoameloblastoma
- elite association - COSMIC cancer census association via MalaCards
Search SMO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SMO_HUMAN
  • 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)
SMO
Human Genome Epidemiology (HuGE) Navigator
SMO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMO
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 SR … Wilkie AO (American journal of human genetics 2016) 3 4 60
  2. Identification of recurrent SMO and BRAF mutations in ameloblastomas. (PMID: 24859340) Sweeney RT … West RB (Nature genetics 2014) 3 4 60
  3. Structure of the human smoothened receptor bound to an antitumour agent. (PMID: 23636324) Wang C … Stevens RC (Nature 2013) 3 4 60
  4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 45 60
  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 … IMGSAC (Molecular psychiatry 2010) 3 45 60

Products for SMO Gene

  • Addgene plasmids for SMO

Sources for SMO Gene

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