SMO Chromosome 7
Smoothened, frizzled class receptor
Upload your DNA to see your personal genotypes for variants in SMO.
What This Gene Does
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]
Gene Info
Gene Group
G protein-coupled receptors, Class F frizzled
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000128602
Associated Conditions (18)
Uveal melanoma
Gastric cancer
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Melanoma
Malignant tumor of esophagus
Uterine corpus endometrial carcinoma
Colorectal cancer
Lung cancer
Congenital hypothalamic hamartoma syndrome
Curry-Jones syndrome
Basal cell carcinoma
somatic
Meningioma
Medulloblastoma WNT activated
Key Variants
RS111694017
Conflicting classifications of pathogenicity
Uveal melanoma, Gastric cancer, Nonpapillary renal cell carcinoma
Health Risk
RS140172891
Conflicting classifications of pathogenicity
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
RS142495470
Conflicting classifications of pathogenicity
Curry-Jones syndrome, Curry-Jones syndrome
Health Risk
RS755206422
Conflicting classifications of pathogenicity
Curry-Jones syndrome, Curry-Jones syndrome
Health Risk
RS1793751061
Likely pathogenic
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
RS766211091
Likely pathogenic
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
RS1006687669
Pathogenic
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
RS1157132860
Pathogenic
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
RS121918347
Pathogenic
Basal cell carcinoma, somatic, Basal cell carcinoma
Health Risk
RS121918348
Pathogenic
Basal cell carcinoma, somatic, Basal cell carcinoma
Health Risk
RS1793814652
Pathogenic
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
RS577512487
Pathogenic
Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111694017 | Health Risk | Conflicting classifications of pathogenicity | Uveal melanoma, Gastric cancer, Nonpapillary renal cell carcinoma |
| RS140172891 | Health Risk | Conflicting classifications of pathogenicity | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS142495470 | Health Risk | Conflicting classifications of pathogenicity | Curry-Jones syndrome, Curry-Jones syndrome |
| RS755206422 | Health Risk | Conflicting classifications of pathogenicity | Curry-Jones syndrome, Curry-Jones syndrome |
| RS1793751061 | Health Risk | Likely pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS766211091 | Health Risk | Likely pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS1006687669 | Health Risk | Pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS1157132860 | Health Risk | Pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS121918347 | Health Risk | Pathogenic | Basal cell carcinoma, somatic, Basal cell carcinoma |
| RS121918348 | Health Risk | Pathogenic | Basal cell carcinoma, somatic, Basal cell carcinoma |
| RS1793814652 | Health Risk | Pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS577512487 | Health Risk | Pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS755698791 | Health Risk | Pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS767688088 | Health Risk | Pathogenic | Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome |
| RS879255280 | Health Risk | Pathogenic | Curry-Jones syndrome, Meningioma, Medulloblastoma WNT activated |