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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
  • FZD11 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]

GeneCards Summary for SMO Gene

SMO (Smoothened, Frizzled Class Receptor) is a Protein Coding gene. Diseases associated with SMO include Basal Cell Carcinoma 1 and Basal Cell Carcinoma. Among its related pathways are Axon guidance and ERK Signaling. GO annotations related to this gene include G-protein coupled receptor activity and PDZ domain binding. An important paralog of this gene is FZD10.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SMO on UCSC Golden Path with GeneCards custom track

Genomic Location for SMO Gene

Chromosome:
7
Start:
129,188,872 bp from pter
End:
129,213,546 bp from pter
Size:
24,675 bases
Orientation:
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:
    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. 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

Proteomics data for SMO Gene at MOPED

Post-translational modifications for SMO Gene

  • Glycosylation at Asn 35, Asn 188, and Asn 309
  • Modification sites at PhosphoSitePlus

Other Protein References for SMO Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q99835

UniProtKB/Swiss-Prot:

SMO_HUMAN :
  • Contains 1 FZ (frizzled) domain.
  • Belongs to the G-protein coupled receptor Fz/Smo family.
Domain:
  • Contains 1 FZ (frizzled) domain.
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.
genes like me logo Genes that share phenotypes with SMO: view

Animal Models for SMO Gene

MGI Knock Outs for SMO:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
Jensen Localization Image for SMO Gene COMPARTMENTS Subcellular localization image for SMO gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
cytoskeleton 2
endosome 1

Gene Ontology (GO) - Cellular Components for SMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 colocalizes_with Golgi apparatus IDA 11278759
GO:0005901 colocalizes_with caveola IDA 11278759
GO:0043231 intracellular membrane-bounded organelle IDA 11278759
GO:0097542 ciliary tip TAS --
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

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

(19) 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
Erivedge Approved January 2012 Pharma 0
Cyclopamine Pharma Hedgehog (Hh) signaling Inhibitor, Inhibitor of Hedgehog (Hh) signaling 0
Purmorphamine Pharma Hedgehog agonist, Smo receptor agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GSA 10
300833-95-8

(5) Tocris Compounds for SMO Gene

Compound Action Cas Number
Cyclopamine Inhibitor of Hedgehog (Hh) signaling 4449-51-8
GSA 10 Smo receptor agonist 300833-95-8
Purmorphamine Smo receptor agonist 483367-10-8
SAG Potent Smoothened receptor agonist; activates the Hedgehog signaling pathway 912545-86-9
SANT-1 Inhibitor of hedgehog (Hh) signaling; antagonizes smoothened activity 304909-07-7

(6) ApexBio Compounds for SMO Gene

Compound Action Cas Number
BMS-833923 Smoothened inhibitor 1059734-66-5
Cyclopamine Hedgehog (Hh) signaling Inhibitor 4449-51-8
LDE225 (NVP-LDE225,Erismodegib) Smoothened inhibitor,potent and selective 956697-53-3
LDE225 Diphosphate Smo antagonist 1218778-77-8
PF-04449913 Antagonist of smoothened 1095173-27-5
Purmorphamine Hedgehog agonist 483367-10-8
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:

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 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



SOURCE GeneReport for Unigene cluster for SMO Gene Hs.437846

genes like me logo Genes that share expression patterns with SMO: view

Protein tissue co-expression partners for SMO Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SMO 35
  • 92.1 (n)
  • 96.13 (a)
SMO 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMO 35
  • 92.22 (n)
  • 96.75 (a)
SMO 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smo 35
  • 90.13 (n)
  • 94.08 (a)
Smo 16
Smo 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMO 35
  • 98.94 (n)
  • 98.73 (a)
SMO 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smo 35
  • 89.52 (n)
  • 93.95 (a)
oppossum
(Monodelphis domestica)
Mammalia SMO 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMO 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMO 35
  • 81.2 (n)
  • 83.69 (a)
SMO 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMO 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smo 35
  • 70.3 (n)
  • 76.28 (a)
African clawed frog
(Xenopus laevis)
Amphibia Smo 35
zebrafish
(Danio rerio)
Actinopterygii smo 35
  • 68.82 (n)
  • 74.71 (a)
smoh 35
smo 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta GPRSMO 35
  • 55.44 (n)
  • 45.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta smo 35
  • 53.58 (n)
  • 44.44 (a)
smo 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lin-17 36
  • 19 (a)
OneToOne
Species with no ortholog for SMO:
  • 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

(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
VAR_007848 Basal cell carcinoma samples
VAR_007849 Basal cell carcinoma samples
rs17710891 - 129,209,348(+) TCTAC(A/C/G)ACTTC reference, missense
rs6947544 -- 129,199,743(+) aaaaa(A/T)aaaaa intron-variant
rs6948132 -- 129,196,049(+) tgagc(C/T)gagat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831127 CNV Gain 17160897
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

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

Disorders for SMO Gene

MalaCards: The human disease database

(9) MalaCards diseases for SMO Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
basal cell carcinoma 1
  • basal cell carcinoma, somatic
basal cell carcinoma
  • basal cell cancer
keratocystic odontogenic tumor
  • ktoc
infratentorial cancer
  • brain neoplasm, infratentorial
infundibulocystic basal cell carcinoma
  • skin infundibulocystic basal cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search SMO in MalaCards View complete list of genes associated with diseases

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 UniProtKB/Swiss-Prot and Genatlas for SMO Gene

Publications for SMO Gene

  1. Structure of the human smoothened receptor bound to an antitumour agent. (PMID: 23636324) Wang C. … Stevens R.C. (Nature 2013) 3 4 67
  2. 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 23
  3. Evidence for allosteric interactions of antagonist binding to the smoothened receptor. (PMID: 19304771) Rominger C.M. … Rominger D.H. (J. Pharmacol. Exp. Ther. 2009) 3 23
  4. PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. (PMID: 18502968) Sun L.S. … Li T.J. (J. Dent. Res. 2008) 3 23
  5. Dysregulation of the Hedgehog pathway in human hepatocarcinogenesis. (PMID: 16339184) Sicklick J.K. … Diehl A.M. (Carcinogenesis 2006) 3 23

Products for SMO Gene

Sources for SMO Gene

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