SMO (smoothened, frizzled class receptor)

2003-02-01  

Identity

HGNC
LOCATION
7q32.1
LOCUSID
ALIAS
CRJS,FZD11,Gx,PHLS,SMOH
FUSION GENES

Other Information

Locus ID:

NCBI: 6608
MIM: 601500
HGNC: 11119
Ensembl: ENSG00000128602

Variants:

dbSNP: 6608
ClinVar: 6608
TCGA: ENSG00000128602
COSMIC: SMO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128602ENST00000249373Q99835
ENSG00000128602ENST00000462420H7C509
ENSG00000128602ENST00000475779H7C5S9
ENSG00000128602ENST00000655644A0A590UJE7

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Axon guidanceKEGGko04360
Basal cell carcinomaKEGGko05217
Hedgehog signaling pathwayKEGGhsa04340
Axon guidanceKEGGhsa04360
Pathways in cancerKEGGhsa05200
Basal cell carcinomaKEGGhsa05217
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Hedgehog signalingKEGGhsa_M00678
Hedgehog signalingKEGGM00678
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787
Hedgehog 'on' stateREACTOMER-HSA-5632684
Activation of SMOREACTOMER-HSA-5635838

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
197267882009Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma.307
121924142002Patched acts catalytically to suppress the activity of Smoothened.246
233485052013Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.175
236363242013Structure of the human smoothened receptor bound to an antitumour agent.155
233346672013Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.133
257590202015Smoothened variants explain the majority of drug resistance in basal cell carcinoma.105
156185192004Activity-dependent internalization of smoothened mediated by beta-arrestin 2 and GRK2.98
222312732012Oxysterols are allosteric activators of the oncoprotein Smoothened.97
163391842006Dysregulation of the Hedgehog pathway in human hepatocarcinogenesis.94
257590192015Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma.90

Citation

Dessen P

SMO (smoothened, frizzled class receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42340/smo