SMO (smoothened, frizzled class receptor)

2003-02-01  

Identity

HGNC
SMO
LOCATION
7q32.1
LOCUSID
6608
ALIAS
CRJS,FZD11,Gx,PHLS,SMOH
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381818922024HERC4 modulates ovarian cancer cell proliferation by regulating SMO-elicited hedgehog signaling.0
381818922024HERC4 modulates ovarian cancer cell proliferation by regulating SMO-elicited hedgehog signaling.0
378305702023Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.2
378305702023Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.2
332062872022Understanding Abnormal SMO-SHH Signaling in Autism Spectrum Disorder: Potential Drug Target and Therapeutic Goals.12
348937582022Smoothened (SMO) regulates insulin-like growth factor 1 receptor (IGF1R) levels and protein kinase B (AKT) localization and signaling.5
349945762022Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma.3
351526502022[Detection of SMO gene mutations in odontogenic keratocyst].1
332062872022Understanding Abnormal SMO-SHH Signaling in Autism Spectrum Disorder: Potential Drug Target and Therapeutic Goals.12
348937582022Smoothened (SMO) regulates insulin-like growth factor 1 receptor (IGF1R) levels and protein kinase B (AKT) localization and signaling.5
349945762022Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma.3
351526502022[Detection of SMO gene mutations in odontogenic keratocyst].1
333480532021sEVs from tonsil-derived mesenchymal stromal cells alleviate activation of hepatic stellate cells and liver fibrosis through miR-486-5p.24
333983792021Silencing of long non‑coding RNA NEAT1 inhibits hepatocellular carcinoma progression by downregulating SMO by sponging microRNA‑503.4
334462602021A novel protein encoded by circular SMO RNA is essential for Hedgehog signaling activation and glioblastoma tumorigenicity.74

Citation

Dessen P

SMO (smoothened, frizzled class receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42340/case-report-explorer/favicon/gene-explorer/