SMO (smoothened, frizzled class receptor) - Rat Genome Database

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Gene: SMO (smoothened, frizzled class receptor) Homo sapiens
Analyze
Symbol: SMO
Name: smoothened, frizzled class receptor
RGD ID: 733306
HGNC Page HGNC:11119
Description: Enables cAMP-dependent protein kinase inhibitor activity and patched binding activity. Involved in several processes, including contact inhibition; smooth muscle tissue development; and smoothened signaling pathway. Located in Golgi apparatus; caveola; and cilium. Implicated in basal cell carcinoma; hepatocellular carcinoma; malignant pleural mesothelioma; pancreatic cancer; and pancreatic ductal carcinoma. Biomarker of carcinoma (multiple); gastrointestinal system cancer (multiple); nevoid basal cell carcinoma syndrome; and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CRJS; frizzled family member 11; FZD11; Gx; PHLS; seven transmembrane helix receptor; SMOH; smoothened homolog; smoothened, frizzled family receptor; smoothened, seven transmembrane spanning receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387129,188,633 - 129,213,545 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7129,188,633 - 129,213,545 (+)EnsemblGRCh38hg38GRCh38
GRCh377128,828,474 - 128,853,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367128,615,949 - 128,640,622 (+)NCBINCBI36Build 36hg18NCBI36
Build 347128,422,663 - 128,447,334NCBI
Celera7123,625,432 - 123,650,109 (+)NCBICelera
Cytogenetic Map7q32.1NCBI
HuRef7123,189,938 - 123,214,626 (+)NCBIHuRef
CHM1_17128,762,307 - 128,786,971 (+)NCBICHM1_1
T2T-CHM13v2.07130,501,540 - 130,526,468 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27128,212,668 - 128,237,345 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
Ac-Ser-Asp-Lys-Pro-OH  (EXP,ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP,ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
cannabidiol  (EXP)
captopril  (EXP,ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
CGP 52608  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
colforsin daropate hydrochloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
Cyclopamine  (EXP,ISO)
D-glucose  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
folic acid  (ISO)
gemcitabine  (EXP)
gentamycin  (ISO)
glucose  (ISO)
goralatide  (EXP,ISO)
hydralazine  (EXP)
hydrogen peroxide  (ISO)
itraconazole  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
menadione  (EXP)
methotrexate  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
quercetin  (EXP)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
resveratrol  (EXP,ISO)
Salinomycin  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
sonidegib  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
theaflavin  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP)
vismodegib  (EXP,ISO)
zinc atom  (EXP)
zinc oxide  (ISO)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-tubulin acetylation  (ISO)
anterior/posterior pattern specification  (IEA,ISO)
apoptotic process  (IEA,ISO)
astrocyte activation  (IEA,ISO)
atrial septum morphogenesis  (IEA,ISO)
axon extension involved in axon guidance  (ISO)
cell development  (IEA,ISO)
cell fate specification  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cell surface receptor signaling pathway  (IEA)
cellular response to cholesterol  (IEA,ISS)
central nervous system development  (IBA,IEA,ISO)
central nervous system neuron differentiation  (IEA,ISO)
cerebellar cortex morphogenesis  (IEA,ISO)
cerebral cortex development  (IEA,ISO)
commissural neuron axon guidance  (IBA,ISO)
contact inhibition  (IMP)
dentate gyrus development  (IEA,ISO)
determination of left/right asymmetry in lateral mesoderm  (IEA,ISS)
determination of left/right symmetry  (IEA,ISO)
developmental growth  (IEA,ISO)
developmental process  (IEA)
digestive tract development  (IEA,ISO)
dopaminergic neuron differentiation  (IEA,ISO)
dorsal/ventral neural tube patterning  (IEA,ISO)
dorsal/ventral pattern formation  (IEA,ISO)
embryonic organ development  (IEA,ISO)
epithelial cell differentiation  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
epithelial-mesenchymal cell signaling  (IEA,ISO)
facial nerve development  (ISO)
forebrain morphogenesis  (IEA,ISS)
G protein-coupled receptor signaling pathway  (IEA)
gene expression  (IEA,ISO)
hair follicle development  (IEA,ISO)
hair follicle morphogenesis  (IEA,ISO)
heart looping  (IEA,ISS)
heart morphogenesis  (IEA,ISO)
homeostasis of number of cells within a tissue  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
left/right axis specification  (IEA,ISO)
mammary gland epithelial cell differentiation  (IEA,ISO)
mesenchymal to epithelial transition  (ISO)
mesenchymal to epithelial transition involved in metanephric renal vesicle formation  (IEA,ISS)
midgut development  (IEA,ISS)
multicellular organism growth  (IEA,ISO)
myoblast migration  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of cellular process  (ISO)
negative regulation of DNA-templated transcription  (IEA)
negative regulation of epithelial cell differentiation  (IEA,ISO)
negative regulation of gene expression  (IEA,ISS)
negative regulation of hair follicle development  (IEA,ISO)
negative regulation of hepatocyte proliferation  (ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of protein phosphorylation  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
neural crest cell migration  (IEA,ISO)
neuroblast proliferation  (IEA,ISO)
neuron projection regeneration  (ISO)
odontogenesis of dentin-containing tooth  (IEA,ISO)
ossification  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
pancreas morphogenesis  (IEA,ISO)
pattern specification process  (IBA,IEA,ISO)
positive regulation of autophagy  (ISO)
positive regulation of branching involved in ureteric bud morphogenesis  (IEA,ISS)
positive regulation of cell migration  (IMP)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IEA)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of gene expression  (IEA,IMP,ISO,ISS)
positive regulation of hepatic stellate cell activation  (ISO)
positive regulation of mesenchymal cell proliferation  (IEA,ISO)
positive regulation of multicellular organism growth  (IEA)
positive regulation of neural precursor cell proliferation  (ISO)
positive regulation of neuroblast proliferation  (IEA,ISO)
positive regulation of organ growth  (IEA)
positive regulation of protein import into nucleus  (IEA,ISO)
positive regulation of smoothened signaling pathway  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
positive regulation of vascular associated smooth muscle cell migration  (ISO)
protein import into nucleus  (IEA,ISO)
protein localization to nucleus  (IEA,ISO)
protein stabilization  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
regulation of heart morphogenesis  (IEA,ISS)
regulation of somatic stem cell population maintenance  (IEA,ISO)
response to inositol  (IEA)
skeletal muscle fiber development  (IEA,ISO)
smooth muscle tissue development  (IEP)
smoothened signaling pathway  (IBA,IDA,IEA,IEP,IMP,ISO,ISS)
somite development  (IEA,ISS)
spermatogenesis  (ISO)
spinal cord dorsal/ventral patterning  (IEA)
thalamus development  (IEA,ISO)
tissue development  (IEA)
type B pancreatic cell development  (IEA,ISO)
vasculogenesis  (IEA,ISO)
ventral midline determination  (IEA,ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 finger osseus syndactyly  (IAGP)
3-4 toe syndactyly  (IAGP)
Abdominal pain  (IAGP)
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal central motor function  (IAGP)
Abnormal central sensory function  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal hypothalamus physiology  (IAGP)
Abnormal kinetic perimetry test  (IAGP)
Abnormal mediastinum morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of the sense of smell  (IAGP)
Abnormality of thumb phalanx  (IAGP)
Abnormality on pulmonary function testing  (IAGP)
Adducted thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Amblyopia  (IAGP)
Amenorrhea  (IAGP)
Anal stenosis  (IAGP)
Anterior hypopituitarism  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Back pain  (IAGP)
Basal cell carcinoma  (IAGP)
Bicoronal synostosis  (IAGP)
Bitemporal hemianopia  (IAGP)
Blepharophimosis  (IAGP)
Blindness  (IAGP)
Brain stem compression  (IAGP)
Broad thumb  (IAGP)
Cerebral hemorrhage  (IAGP)
Chiari type I malformation  (IAGP)
Chromosomal breakage induced by ionizing radiation  (IAGP)
Chronic constipation  (IAGP)
Cleft palate  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Craniosynostosis  (IAGP)
Death in infancy  (IAGP)
Decreased circulating ACTH concentration  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased circulating follicle stimulating hormone concentration  (IAGP)
Decreased circulating luteinizing hormone level  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diarrhea  (IAGP)
Duplication of thumb phalanx  (IAGP)
Ear pain  (IAGP)
Emotional lability  (IAGP)
Enlarged pituitary gland  (IAGP)
Excessive daytime somnolence  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Failure to thrive in infancy  (IAGP)
Finger syndactyly  (IAGP)
Focal emotional seizure with crying  (IAGP)
Focal T2 hypointense thalamic lesion  (IAGP)
Focal-onset seizure  (IAGP)
Foot polydactyly  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Generalized hirsutism  (IAGP)
Glioma  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hemifacial spasm  (IAGP)
Hemimegalencephaly  (IAGP)
Hemiparesis  (IAGP)
High anterior hairline  (IAGP)
Hip dislocation  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypothalamic hamartoma  (IAGP)
Hypothalamic hypothyroidism  (IAGP)
Impotence  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased intracranial pressure  (IAGP)
Increased sensitivity to ionizing radiation  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Intracranial meningioma  (IAGP)
Iris coloboma  (IAGP)
Lip pit  (IAGP)
Lipomyelomeningocele  (IAGP)
Lower limb muscle weakness  (IAGP)
Macrocephaly  (IAGP)
Median cleft upper lip  (IAGP)
Medulloblastoma  (IAGP)
Megalencephaly  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the anterior pituitary  (IAGP)
Neoplasm of the posterior pituitary  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neoplasm of the tongue  (IAGP)
Neurofibroma  (IAGP)
Nevus sebaceous  (IAGP)
Obesity  (IAGP)
Occipital encephalocele  (IAGP)
Occipital meningocele  (IAGP)
Oculomotor nerve palsy  (IAGP)
Ophthalmoplegia  (IAGP)
Optic disc coloboma  (IAGP)
Papilledema  (IAGP)
Pituitary hypothyroidism  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polymicrogyria  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Preaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Progressive pulmonary function impairment  (IAGP)
Proptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Reduced circulating prolactin concentration  (IAGP)
Renal dysplasia  (IAGP)
Secondary growth hormone deficiency  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short nose  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep terror  (IAGP)
Slow decrease in visual acuity  (IAGP)
Spinal meningioma  (IAGP)
Syncope  (IAGP)
Tinnitus  (IAGP)
Toe syndactyly  (IAGP)
Transient global amnesia  (IAGP)
Trigeminal neuralgia  (IAGP)
Triphalangeal hallux  (IAGP)
Typified by somatic mosaicism  (IAGP)
Unicoronal synostosis  (IAGP)
Upper limb muscle weakness  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Visual acuity test abnormality  (IAGP)
Weak extraocular muscles  (IAGP)
Weight loss  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Reduced level of smoothened suppresses intestinal tumorigenesis by down-regulation of Wnt signaling. Arimura S, etal., Gastroenterology. 2009 Aug;137(2):629-38. doi: 10.1053/j.gastro.2009.04.059. Epub 2009 May 7.
2. Recruitment of the Sonic hedgehog signalling cascade in electroconvulsive seizure-mediated regulation of adult rat hippocampal neurogenesis. Banerjee SB, etal., Eur J Neurosci. 2005 Oct;22(7):1570-80.
3. Smoothened agonist augments proliferation and survival of neural cells. Bragina O, etal., Neurosci Lett. 2010 Sep 27;482(2):81-5. doi: 10.1016/j.neulet.2010.06.068. Epub 2010 Jul 1.
4. Dynamic changes of Sonic Hedgehog signaling pathway in gastric mucosa of rats with MNNG-induced gastric precancerous lesions. Cai D, etal., J Cell Physiol. 2019 Jul;234(7):10827-10834. doi: 10.1002/jcp.27908. Epub 2018 Dec 7.
5. Hedgehog signaling update. Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909.
6. Expression of smoothened protein in colon cancer and its prognostic value for postoperative liver metastasis. Ding YL, etal., Asian Pac J Cancer Prev. 2012;13(8):4001-5. doi: 10.7314/apjcp.2012.13.8.4001.
7. Antisense Smo under the control of the PTCH1 promoter delivered by an adenoviral vector inhibits the growth of human pancreatic cancer. Gao J, etal., Gene Ther. 2006 Nov;13(22):1587-94. Epub 2006 Jul 6.
8. Prevention of Barrett esophagus and esophageal adenocarcinoma by smoothened inhibitor in a rat model of gastroesophageal reflux disease. Gibson MK, etal., Ann Surg. 2013 Jul;258(1):82-8. doi: 10.1097/SLA.0b013e318270500d.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Blockade of the sonic hedgehog signalling pathway inhibits choroidal neovascularization in a laser-induced rat model. He H, etal., J Huazhong Univ Sci Technolog Med Sci. 2010 Oct;30(5):659-65. doi: 10.1007/s11596-010-0560-z. Epub 2010 Nov 10.
11. Neuroprotective Effects of a Smoothened Receptor Agonist against Early Brain Injury after Experimental Subarachnoid Hemorrhage in Rats. Hu Q, etal., Front Cell Neurosci. 2017 Jan 18;10:306. doi: 10.3389/fncel.2016.00306. eCollection 2016.
12. Anti-oxidative, anti-apoptotic, and pro-angiogenic effects mediate functional improvement by sonic hedgehog against focal cerebral ischemia in rats. Huang SS, etal., Exp Neurol. 2013 Sep;247:680-8. doi: 10.1016/j.expneurol.2013.03.004. Epub 2013 Mar 13.
13. Inhibition of the hedgehog pathway targets the tumor-associated stroma in pancreatic cancer. Hwang RF, etal., Mol Cancer Res. 2012 Sep;10(9):1147-57. doi: 10.1158/1541-7786.MCR-12-0022. Epub 2012 Aug 2.
14. Expression of hedgehog signal pathway in articular cartilage is associated with the severity of cartilage damage in rats with adjuvant-induced arthritis. Li R, etal., J Inflamm (Lond). 2015 Mar 28;12:24. doi: 10.1186/s12950-015-0072-5. eCollection 2015.
15. Prognostic value of hedgehog signal component expressions in hepatoblastoma patients. Li YC, etal., Eur J Med Res. 2010 Nov 25;15(11):468-74. doi: 10.1186/2047-783x-15-11-468.
16. Targeting Smoothened Sensitizes Gastric Cancer to Chemotherapy in Experimental Models. Ma H, etal., Med Sci Monit. 2017 Mar 28;23:1493-1500. doi: 10.12659/msm.903012.
17. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
18. Nuclear localization and Overexpression of Smoothened in Pancreatic and Colorectal Cancers. Niyaz M, etal., J Cell Biochem. 2019 Feb 19. doi: 10.1002/jcb.28477.
19. PTC gene mutations and expression of SHH, PTC, SMO, and GLI-1 in odontogenic keratocysts. Ohki K, etal., Int J Oral Maxillofac Surg. 2004 Sep;33(6):584-92.
20. Inhibition of Hedgehog signaling enhances delivery of chemotherapy in a mouse model of pancreatic cancer. Olive KP, etal., Science. 2009 Jun 12;324(5933):1457-61. Epub 2009 May 21.
21. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
22. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
23. Attenuation of early liver fibrosis by pharmacological inhibition of smoothened receptor signaling. Pratap A, etal., J Drug Target. 2012 Nov;20(9):770-82. doi: 10.3109/1061186X.2012.719900. Epub 2012 Sep 20.
24. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
25. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
26. Effective targeting of Hedgehog signaling in a medulloblastoma model with PF-5274857, a potent and selective Smoothened antagonist that penetrates the blood-brain barrier. Rohner A, etal., Mol Cancer Ther. 2012 Jan;11(1):57-65. doi: 10.1158/1535-7163.MCT-11-0691. Epub 2011 Nov 14.
27. [Expression of Smo protein and the downstream transcription factor Gli1 protein in Sonic hedgehog signal transduction pathway in gastric carcinoma]. Rong ZX, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2006 Dec;26(12):1728-31.
28. Dysregulation of the Hedgehog pathway in human hepatocarcinogenesis. Sicklick JK, etal., Carcinogenesis. 2006 Apr;27(4):748-57. doi: 10.1093/carcin/bgi292. Epub 2005 Dec 8.
29. SMO mutations confer poor prognosis in malignant pleural mesothelioma. Signorelli D, etal., Transl Lung Cancer Res. 2020 Oct;9(5):1940-1951. doi: 10.21037/tlcr-19-425.
30. Expression of sonic hedgehog signal transducers, patched and smoothened, in human basal cell carcinoma. Tojo M, etal., Pathol Int. 1999 Aug;49(8):687-94.
31. Expression and clinical significance of hedgehog signaling pathway related components in colorectal cancer. Wang H, etal., Asian Pac J Cancer Prev. 2012;13(5):2319-24. doi: 10.7314/apjcp.2012.13.5.2319.
32. Sonic hedgehog expression in a rat model of chronic pancreatitis. Wang LW, etal., World J Gastroenterol. 2014 Apr 28;20(16):4712-7. doi: 10.3748/wjg.v20.i16.4712.
33. Association between donor and recipient smoothened gene polymorphisms and the risk of hepatocellular carcinoma recurrence following orthotopic liver transplantation in a Han Chinese population. Wang P, etal., Tumour Biol. 2015 Sep;36(10):7807-15. doi: 10.1007/s13277-015-3370-x. Epub 2015 May 6.
34. Expression of sonic hedgehog signaling pathways in a rat model of chronic pancreatitis. Wei-Guo H, etal., Saudi Med J. 2010 Jan;31(1):14-7.
35. Neuroprotective effect of up-regulated Sonic hedgehog in retinal ganglion cells following chronic ocular hypertension. Wu J, etal., Invest Ophthalmol Vis Sci. 2010 Jan 13.
36. Activating Smoothened mutations in sporadic basal-cell carcinoma. Xie J, etal., Nature 1998 Jan 1;391(6662):90-2.
37. Expression and regulation of hedgehog signaling pathway in pancreatic cancer. Yang Y, etal., Langenbecks Arch Surg. 2009 Apr 25.
38. Expressions of sonic hedgehog, patched, smoothened and Gli-1 in human intestinal stromal tumors and their correlation with prognosis. Yoshizaki A, etal., World J Gastroenterol. 2006 Sep 21;12(35):5687-91. doi: 10.3748/wjg.v12.i35.5687.
39. Sonic hedgehog signaling pathway mediates cerebrolysin-improved neurological function after stroke. Zhang L, etal., Stroke. 2013 Jul;44(7):1965-72. doi: 10.1161/STROKEAHA.111.000831. Epub 2013 May 21.
40. SMO expression level correlates with overall survival in patients with malignant pleural mesothelioma. Zhang Y, etal., J Exp Clin Cancer Res. 2013 Feb 5;32:7. doi: 10.1186/1756-9966-32-7.
41. Protein and mRNA expression of Shh, Smo and Gli1 and inhibition by cyclopamine in hepatocytes of rats with chronic fluorosis. Zhao L, etal., Toxicol Lett. 2014 Mar 3;225(2):318-24. doi: 10.1016/j.toxlet.2013.12.022. Epub 2014 Jan 2.
42. FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling. Zhou S, etal., PLoS Genet. 2015 Jun 19;11(6):e1005214. doi: 10.1371/journal.pgen.1005214. eCollection 2015 Jun.
Additional References at PubMed
PMID:8898207   PMID:8906787   PMID:9581815   PMID:9628830   PMID:9764827   PMID:9799615   PMID:9811851   PMID:11042037   PMID:11278759   PMID:11748145   PMID:12123571   PMID:12165511  
PMID:12192414   PMID:12241103   PMID:12477932   PMID:12499255   PMID:12690205   PMID:12773389   PMID:15489334   PMID:15618519   PMID:16147992   PMID:16344560   PMID:16804411   PMID:16867986  
PMID:16945339   PMID:17850284   PMID:17884791   PMID:18359851   PMID:18502968   PMID:18543049   PMID:19056867   PMID:19237606   PMID:19304771   PMID:19351817   PMID:19401682   PMID:19432668  
PMID:19453261   PMID:19473442   PMID:19564910   PMID:19592253   PMID:19726788   PMID:19730683   PMID:20050020   PMID:20067614   PMID:20215540   PMID:20561215   PMID:20603613   PMID:20819778  
PMID:20937227   PMID:21177415   PMID:21210262   PMID:21338440   PMID:21659505   PMID:21671467   PMID:21757753   PMID:21873635   PMID:21931618   PMID:22114142   PMID:22231273   PMID:22253573  
PMID:22486854   PMID:22535603   PMID:22864913   PMID:23063129   PMID:23106887   PMID:23334667   PMID:23341351   PMID:23348505   PMID:23349881   PMID:23448715   PMID:23508962   PMID:23533145  
PMID:23599646   PMID:23636324   PMID:23915072   PMID:24148123   PMID:24277750   PMID:24393163   PMID:24469022   PMID:24859340   PMID:25008467   PMID:25023548   PMID:25173582   PMID:25306392  
PMID:25759019   PMID:25759020   PMID:25785427   PMID:25854168   PMID:26124204   PMID:26126827   PMID:26130651   PMID:26189371   PMID:26261515   PMID:26317547   PMID:26655998   PMID:26784250  
PMID:27002170   PMID:27162362   PMID:27236920   PMID:27437577   PMID:27490099   PMID:27694322   PMID:27727273   PMID:27959416   PMID:28019670   PMID:28082415   PMID:28298427   PMID:28319113  
PMID:28344083   PMID:28386950   PMID:28513578   PMID:28514442   PMID:28675107   PMID:28787156   PMID:29088375   PMID:29229834   PMID:29335739   PMID:29463581   PMID:30132883   PMID:30165192  
PMID:30282972   PMID:30497210   PMID:30557039   PMID:30595453   PMID:30598432   PMID:30861166   PMID:30865837   PMID:31010679   PMID:31168089   PMID:31253779   PMID:31589795   PMID:31758086  
PMID:31895689   PMID:31900278   PMID:31983159   PMID:32084300   PMID:32413283   PMID:32526259   PMID:32743904   PMID:32906187   PMID:32929279   PMID:33047712   PMID:33199907   PMID:33206287  
PMID:33348053   PMID:33396427   PMID:33398379   PMID:33446260   PMID:33771969   PMID:33886552   PMID:33961781   PMID:34079125   PMID:34698632   PMID:34893758   PMID:34994576   PMID:35152650  
PMID:36202993   PMID:37830570   PMID:37903214   PMID:38181892   PMID:38954185  


Genomics

Comparative Map Data
SMO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387129,188,633 - 129,213,545 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7129,188,633 - 129,213,545 (+)EnsemblGRCh38hg38GRCh38
GRCh377128,828,474 - 128,853,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367128,615,949 - 128,640,622 (+)NCBINCBI36Build 36hg18NCBI36
Build 347128,422,663 - 128,447,334NCBI
Celera7123,625,432 - 123,650,109 (+)NCBICelera
Cytogenetic Map7q32.1NCBI
HuRef7123,189,938 - 123,214,626 (+)NCBIHuRef
CHM1_17128,762,307 - 128,786,971 (+)NCBICHM1_1
T2T-CHM13v2.07130,501,540 - 130,526,468 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27128,212,668 - 128,237,345 (+)NCBI
Smo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39629,735,480 - 29,761,359 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl629,735,502 - 29,761,364 (+)EnsemblGRCm39 Ensembl
GRCm38629,735,497 - 29,761,366 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl629,735,503 - 29,761,365 (+)EnsemblGRCm38mm10GRCm38
MGSCv37629,685,497 - 29,711,366 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36629,685,513 - 29,711,369 (+)NCBIMGSCv36mm8
Celera629,744,569 - 29,772,611 (+)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map612.36NCBI
Smo
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8459,311,084 - 59,341,280 (+)NCBIGRCr8
mRatBN7.2458,343,626 - 58,373,823 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl458,343,529 - 58,373,829 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx463,327,690 - 63,351,689 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0459,243,861 - 59,267,857 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0457,645,743 - 57,669,741 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0457,019,941 - 57,041,779 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl457,019,941 - 57,042,770 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0456,787,102 - 56,809,935 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4456,623,494 - 56,645,571 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1456,898,313 - 56,920,866 (+)NCBI
Celera453,450,322 - 53,474,674 (+)NCBICelera
Cytogenetic Map4q22NCBI
Smo
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554799,964,170 - 9,993,165 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554799,963,377 - 9,991,670 (+)NCBIChiLan1.0ChiLan1.0
SMO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26165,999,428 - 166,024,105 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1718,009,925 - 18,034,351 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07121,143,968 - 121,168,873 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17133,668,523 - 133,693,048 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7133,668,304 - 133,693,048 (+)Ensemblpanpan1.1panPan2
SMO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1147,518,871 - 7,527,703 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl147,518,856 - 7,528,033 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha147,206,323 - 7,229,356 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0147,284,734 - 7,307,875 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl147,284,738 - 7,307,899 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1147,489,837 - 7,512,985 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0147,231,685 - 7,254,904 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0147,376,821 - 7,399,952 (-)NCBIUU_Cfam_GSD_1.0
Smo
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511825,760,467 - 25,784,726 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365795,892,542 - 5,917,281 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365795,893,064 - 5,917,021 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1819,450,743 - 19,478,898 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11819,450,730 - 19,478,796 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21820,520,306 - 20,548,303 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12197,788,955 - 97,814,549 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2197,788,624 - 97,814,709 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660425,588,304 - 5,614,118 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smo
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247837,011,899 - 7,039,921 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247837,012,385 - 7,039,302 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMO
133 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005631.5(SMO):c.1801+118C>A single nucleotide variant not provided [RCV001564436] Chr7:129211231 [GRCh38]
Chr7:128851072 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1604G>T (p.Trp535Leu) single nucleotide variant Basal cell carcinoma, somatic [RCV000008586] Chr7:129210500 [GRCh38]
Chr7:128850341 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.1685G>A (p.Arg562Gln) single nucleotide variant Basal cell carcinoma, somatic [RCV000008587] Chr7:129210997 [GRCh38]
Chr7:128850838 [GRCh37]
Chr7:7q32.1		 pathogenic
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 copy number gain See cases [RCV000051072] Chr7:128747478..134018250 [GRCh38]
Chr7:128387532..133703003 [GRCh37]
Chr7:128174768..133353543 [NCBI36]
Chr7:7q32.1-33		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 copy number loss See cases [RCV000054171] Chr7:126859732..132750936 [GRCh38]
Chr7:126499786..132435696 [GRCh37]
Chr7:126287022..132086236 [NCBI36]
Chr7:7q31.33-32.3		 pathogenic
NM_005631.4(SMO):c.1524G>A (p.Glu508=) single nucleotide variant Malignant melanoma [RCV000067632] Chr7:129210420 [GRCh38]
Chr7:128850261 [GRCh37]
Chr7:128637497 [NCBI36]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.99C>G (p.Ser33Arg) single nucleotide variant not specified [RCV000122072] Chr7:129189250 [GRCh38]
Chr7:128829091 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.2060C>T (p.Pro687Leu) single nucleotide variant not provided [RCV000965759]|not specified [RCV000122073] Chr7:129212147 [GRCh38]
Chr7:128851988 [GRCh37]
Chr7:7q32.1		 benign|not provided
NM_005631.5(SMO):c.2093C>G (p.Pro698Arg) single nucleotide variant SMO-related disorder [RCV003925211]|not provided [RCV000883938]|not specified [RCV000122074] Chr7:129212180 [GRCh38]
Chr7:128852021 [GRCh37]
Chr7:7q32.1		 likely benign|not provided
NM_005631.5(SMO):c.2227C>A (p.Pro743Thr) single nucleotide variant not specified [RCV000122075] Chr7:129212314 [GRCh38]
Chr7:128852155 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.2314C>T (p.Arg772Cys) single nucleotide variant not specified [RCV000122076] Chr7:129212401 [GRCh38]
Chr7:128852242 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln) single nucleotide variant Curry-Jones syndrome [RCV000987975]|not provided [RCV003430682]|not specified [RCV000122077] Chr7:129212264 [GRCh38]
Chr7:128852105 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance|not provided
NM_005631.5(SMO):c.2344G>A (p.Asp782Asn) single nucleotide variant not specified [RCV000122078] Chr7:129212431 [GRCh38]
Chr7:128852272 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.517C>T (p.Arg173Cys) single nucleotide variant not specified [RCV000122079] Chr7:129203569 [GRCh38]
Chr7:129203569..129203570 [GRCh38]
Chr7:128843410 [GRCh37]
Chr7:128843410..128843411 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.503G>A (p.Arg168His) single nucleotide variant not provided [RCV000953257]|not specified [RCV000122080] Chr7:129203555 [GRCh38]
Chr7:128843396 [GRCh37]
Chr7:7q32.1		 benign|not provided
NM_005631.5(SMO):c.518G>A (p.Arg173His) single nucleotide variant SMO-related disorder [RCV003925212]|not provided [RCV003311681]|not specified [RCV000122081] Chr7:129203570 [GRCh38]
Chr7:128843411 [GRCh37]
Chr7:7q32.1		 likely benign|not provided
NM_005631.5(SMO):c.672G>T (p.Glu224Asp) single nucleotide variant not specified [RCV000122082] Chr7:129205337 [GRCh38]
Chr7:128845178 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.808G>A (p.Val270Ile) single nucleotide variant not provided [RCV000954939]|not specified [RCV000122083] Chr7:129205670 [GRCh38]
Chr7:128845511 [GRCh37]
Chr7:7q32.1		 benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005631.5(SMO):c.1417G>A (p.Asp473Asn) single nucleotide variant not specified [RCV000122084] Chr7:129209348 [GRCh38]
Chr7:128849189 [GRCh37]
Chr7:7q32.1		 not provided
NM_005631.5(SMO):c.1921C>G (p.Pro641Ala) single nucleotide variant not provided [RCV001795217]|not specified [RCV000122436] Chr7:129211755 [GRCh38]
Chr7:128851596 [GRCh37]
Chr7:7q32.1		 uncertain significance|not provided
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser) single nucleotide variant Hamartoma of hypothalamus [RCV003993813]|not provided [RCV000514158]|not specified [RCV000122437] Chr7:129212026 [GRCh38]
Chr7:128851867 [GRCh37]
Chr7:7q32.1		 likely pathogenic|benign|likely benign|not provided
NM_005631.5(SMO):c.2057C>T (p.Ala686Val) single nucleotide variant Hamartoma of hypothalamus [RCV003453053]|not specified [RCV000122438] Chr7:129212144 [GRCh38]
Chr7:128851985 [GRCh37]
Chr7:7q32.1		 uncertain significance|not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3 copy number gain See cases [RCV000142106] Chr7:127817826..129237503 [GRCh38]
Chr7:127457880..128877344 [GRCh37]
Chr7:127245116..128664580 [NCBI36]
Chr7:7q32.1		 likely benign|uncertain significance
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33		 pathogenic
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) single nucleotide variant Curry-Jones syndrome [RCV000236033] Chr7:129206557 [GRCh38]
Chr7:128846398 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.1140+13G>A single nucleotide variant not provided [RCV000513880] Chr7:129206382 [GRCh38]
Chr7:128846223 [GRCh37]
Chr7:7q32.1		 likely benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005631.5(SMO):c.1248C>G (p.Gly416=) single nucleotide variant not provided [RCV000962915]|not specified [RCV000435652] Chr7:129206571 [GRCh38]
Chr7:128846412 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1417G>C (p.Asp473His) single nucleotide variant Basal cell carcinoma [RCV000441195]|Medulloblastoma [RCV000431122] Chr7:129209348 [GRCh38]
Chr7:128849189 [GRCh37]
Chr7:7q32.1		 pathogenic
GRCh37/hg19 7q32.1(chr7:128837666-129131364)x1 copy number loss See cases [RCV000448798] Chr7:128837666..129131364 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_005631.5(SMO):c.1164G>C (p.Gly388=) single nucleotide variant Hamartoma of hypothalamus [RCV001808832]|not provided [RCV001653814]|not specified [RCV000455693] Chr7:129206487 [GRCh38]
Chr7:128846328 [GRCh37]
Chr7:7q32.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_005631.5(SMO):c.887G>A (p.Arg296His) single nucleotide variant Inborn genetic diseases [RCV003275170] Chr7:129205749 [GRCh38]
Chr7:128845590 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2254G>A (p.Ala752Thr) single nucleotide variant Inborn genetic diseases [RCV003272070] Chr7:129212341 [GRCh38]
Chr7:128852182 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005631.5(SMO):c.921-84T>C single nucleotide variant not provided [RCV001666750] Chr7:129206066 [GRCh38]
Chr7:128845907 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.*89C>T single nucleotide variant not provided [RCV001680314] Chr7:129212540 [GRCh38]
Chr7:128852381 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.735G>A (p.Thr245=) single nucleotide variant not provided [RCV000970180] Chr7:129205400 [GRCh38]
Chr7:128845241 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.1317G>A (p.Glu439=) single nucleotide variant not provided [RCV000958982] Chr7:129208811 [GRCh38]
Chr7:128848652 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.2259G>A (p.Pro753=) single nucleotide variant not provided [RCV000958993] Chr7:129212346 [GRCh38]
Chr7:128852187 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.1731C>T (p.His577=) single nucleotide variant not provided [RCV000901890] Chr7:129211043 [GRCh38]
Chr7:128850884 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.74A>G (p.Asp25Gly) single nucleotide variant not provided [RCV000947070] Chr7:129189225 [GRCh38]
Chr7:128829066 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.49CTG[8] (p.Leu23dup) microsatellite SMO-related disorder [RCV003913248]|not provided [RCV000948334] Chr7:129189198..129189199 [GRCh38]
Chr7:128829039..128829040 [GRCh37]
Chr7:7q32.1		 benign|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1 copy number loss not provided [RCV000847911] Chr7:121480906..129389003 [GRCh37]
Chr7:7q31.32-32.2		 pathogenic
NM_005631.5(SMO):c.723G>A (p.Thr241=) single nucleotide variant not provided [RCV000998930] Chr7:129205388 [GRCh38]
Chr7:128845229 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.332-243G>T single nucleotide variant not provided [RCV001550110] Chr7:129203141 [GRCh38]
Chr7:128842982 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.583G>A (p.Val195Met) single nucleotide variant Inborn genetic diseases [RCV002568327]|not provided [RCV001551073] Chr7:129205248 [GRCh38]
Chr7:128845089 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.538-91C>A single nucleotide variant not provided [RCV001554998] Chr7:129205112 [GRCh38]
Chr7:128844953 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1264+130_1264+131dup duplication not provided [RCV001690605] Chr7:129206716..129206717 [GRCh38]
Chr7:128846557..128846558 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.538-10dup duplication not provided [RCV002284656] Chr7:129205190..129205191 [GRCh38]
Chr7:128845031..128845032 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.-415G>T single nucleotide variant not provided [RCV001577101] Chr7:129188737 [GRCh38]
Chr7:128828578 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1137G>A (p.Ala379=) single nucleotide variant not provided [RCV001654366] Chr7:129206366 [GRCh38]
Chr7:128846207 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.2052G>A (p.Pro684=) single nucleotide variant SMO-related disorder [RCV003980704]|not provided [RCV001570236] Chr7:129212139 [GRCh38]
Chr7:128851980 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.920+68G>A single nucleotide variant not provided [RCV001557739] Chr7:129205850 [GRCh38]
Chr7:128845691 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.-35G>T single nucleotide variant not provided [RCV001575703] Chr7:129189117 [GRCh38]
Chr7:128828958 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.582A>G (p.Glu194=) single nucleotide variant not provided [RCV000885618] Chr7:129205247 [GRCh38]
Chr7:128845088 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.2067T>G (p.Pro689=) single nucleotide variant not provided [RCV000917623] Chr7:129212154 [GRCh38]
Chr7:128851995 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1125C>T (p.Ile375=) single nucleotide variant not provided [RCV000937436] Chr7:129206354 [GRCh38]
Chr7:128846195 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.717C>T (p.Ala239=) single nucleotide variant not provided [RCV000954042] Chr7:129205382 [GRCh38]
Chr7:128845223 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.1203G>C (p.Ala401=) single nucleotide variant not provided [RCV000954043] Chr7:129206526 [GRCh38]
Chr7:128846367 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.621C>T (p.Tyr207=) single nucleotide variant Basal cell carcinoma, susceptibility to, 1 [RCV002505342]|SMO-related disorder [RCV003932996]|not provided [RCV000911917] Chr7:129205286 [GRCh38]
Chr7:128845127 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.1264+243C>T single nucleotide variant not provided [RCV001557750] Chr7:129206830 [GRCh38]
Chr7:128846671 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1467-44G>A single nucleotide variant not provided [RCV001578009] Chr7:129210319 [GRCh38]
Chr7:128850160 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.747+44C>T single nucleotide variant not provided [RCV001563497] Chr7:129205456 [GRCh38]
Chr7:128845297 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.*219G>A single nucleotide variant not provided [RCV001582057] Chr7:129212670 [GRCh38]
Chr7:128852511 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1801+23C>T single nucleotide variant not provided [RCV001546362] Chr7:129211136 [GRCh38]
Chr7:128850977 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1265-209C>T single nucleotide variant not provided [RCV001576280] Chr7:129208550 [GRCh38]
Chr7:128848391 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.112G>T (p.Gly38Trp) single nucleotide variant Inborn genetic diseases [RCV003242451] Chr7:129189263 [GRCh38]
Chr7:128829104 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1264+288A>G single nucleotide variant not provided [RCV001638990] Chr7:129206875 [GRCh38]
Chr7:128846716 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.1264+259del deletion not provided [RCV001619354] Chr7:129206839 [GRCh38]
Chr7:128846680 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.1801+100C>T single nucleotide variant not provided [RCV001592137] Chr7:129211213 [GRCh38]
Chr7:128851054 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1801+201del deletion not provided [RCV001581915] Chr7:129211314 [GRCh38]
Chr7:128851155 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1467-37A>G single nucleotide variant not provided [RCV001715023] Chr7:129210326 [GRCh38]
Chr7:128850167 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.384C>T (p.Ala128=) single nucleotide variant not provided [RCV001588212] Chr7:129203436 [GRCh38]
Chr7:128843277 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_005631.5(SMO):c.538-26C>T single nucleotide variant Hamartoma of hypothalamus [RCV001810247]|not provided [RCV001682607] Chr7:129205177 [GRCh38]
Chr7:128845018 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.1467-120T>G single nucleotide variant not provided [RCV001686732] Chr7:129210243 [GRCh38]
Chr7:128850084 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.920+79C>T single nucleotide variant not provided [RCV001599023] Chr7:129205861 [GRCh38]
Chr7:128845702 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.747+72G>A single nucleotide variant not provided [RCV001716685] Chr7:129205484 [GRCh38]
Chr7:128845325 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.536C>T (p.Thr179Met) single nucleotide variant Microcephaly [RCV001252913]|not provided [RCV004693437] Chr7:129203588 [GRCh38]
Chr7:128843429 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1467-270G>C single nucleotide variant not provided [RCV001614801] Chr7:129210093 [GRCh38]
Chr7:128849934 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.538-186AAAG[4] microsatellite not provided [RCV001691657] Chr7:129205016..129205017 [GRCh38]
Chr7:128844857..128844858 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.332-56C>T single nucleotide variant not provided [RCV001648479] Chr7:129203328 [GRCh38]
Chr7:128843169 [GRCh37]
Chr7:7q32.1		 benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_005631.5(SMO):c.2291_2292del (p.Gln764fs) deletion Hamartoma of hypothalamus [RCV001251439] Chr7:129212378..129212379 [GRCh38]
Chr7:128852219..128852220 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.1726C>T (p.Arg576Trp) single nucleotide variant Hamartoma of hypothalamus [RCV001251443] Chr7:129211038 [GRCh38]
Chr7:128850879 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.1727G>A (p.Arg576Gln) single nucleotide variant Hamartoma of hypothalamus [RCV001251442] Chr7:129211039 [GRCh38]
Chr7:128850880 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.781C>T (p.Arg261Cys) single nucleotide variant Hamartoma of hypothalamus [RCV001251440] Chr7:129205643 [GRCh38]
Chr7:128845484 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.1339G>T (p.Glu447Ter) single nucleotide variant Hamartoma of hypothalamus [RCV001251441] Chr7:129208833 [GRCh38]
Chr7:128848674 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.1285A>T (p.Ile429Phe) single nucleotide variant Hamartoma of hypothalamus [RCV001251444] Chr7:129208779 [GRCh38]
Chr7:128848620 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_005631.5(SMO):c.754T>C (p.Phe252Leu) single nucleotide variant Hamartoma of hypothalamus [RCV001261987] Chr7:129205616 [GRCh38]
Chr7:128845457 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_005631.5(SMO):c.1198C>T (p.Arg400Cys) single nucleotide variant Hamartoma of hypothalamus [RCV001261988] Chr7:129206521 [GRCh38]
Chr7:128846362 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_005631.5(SMO):c.1792G>A (p.Gly598Arg) single nucleotide variant Hamartoma of hypothalamus [RCV001807996] Chr7:129211104 [GRCh38]
Chr7:128850945 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1722T>C (p.Ser574=) single nucleotide variant not provided [RCV001536732] Chr7:129211034 [GRCh38]
Chr7:128850875 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.160G>A (p.Val54Met) single nucleotide variant not provided [RCV001776164]|not specified [RCV001261856] Chr7:129189311 [GRCh38]
Chr7:128829152 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.50_51insCCT (p.Leu23dup) insertion not provided [RCV001354912] Chr7:129189199..129189200 [GRCh38]
Chr7:128829040..128829041 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.747+46T>C single nucleotide variant not provided [RCV001536497] Chr7:129205458 [GRCh38]
Chr7:128845299 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.852G>A (p.Gln284=) single nucleotide variant not provided [RCV001540274] Chr7:129205714 [GRCh38]
Chr7:128845555 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1264+41A>G single nucleotide variant Hamartoma of hypothalamus [RCV001810257]|not provided [RCV001691519] Chr7:129206628 [GRCh38]
Chr7:128846469 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.747+24G>C single nucleotide variant Hamartoma of hypothalamus [RCV001810226]|not provided [RCV001672373] Chr7:129205436 [GRCh38]
Chr7:128845277 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.1265-208C>T single nucleotide variant not provided [RCV001527863] Chr7:129208551 [GRCh38]
Chr7:128848392 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.1264+168G>A single nucleotide variant not provided [RCV001779812] Chr7:129206755 [GRCh38]
Chr7:128846596 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.392T>C (p.Met131Thr) single nucleotide variant not provided [RCV001776404] Chr7:129203444 [GRCh38]
Chr7:128843285 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.531del (p.Cys178fs) deletion not provided [RCV001767971] Chr7:129203583 [GRCh38]
Chr7:128843424 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1684C>T (p.Arg562Trp) single nucleotide variant not provided [RCV003238111] Chr7:129210996 [GRCh38]
Chr7:128850837 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.602A>T (p.Asp201Val) single nucleotide variant not provided [RCV001759079] Chr7:129205267 [GRCh38]
Chr7:128845108 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1357+12C>T single nucleotide variant not provided [RCV001779684] Chr7:129208863 [GRCh38]
Chr7:128848704 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.192C>A (p.Cys64Ter) single nucleotide variant not provided [RCV001800152] Chr7:129189343 [GRCh38]
Chr7:128829184 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1937-59G>C single nucleotide variant not provided [RCV001779672] Chr7:129211965 [GRCh38]
Chr7:128851806 [GRCh37]
Chr7:7q32.1		 likely benign
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1		 pathogenic
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1(chr7:128837666-129131364) copy number loss not specified [RCV002053730] Chr7:128837666..129131364 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) copy number loss not specified [RCV002053723] Chr7:123967475..132729981 [GRCh37]
Chr7:7q31.33-33		 pathogenic
NM_005631.5(SMO):c.331+137G>A single nucleotide variant not provided [RCV002211001] Chr7:129189619 [GRCh38]
Chr7:128829460 [GRCh37]
Chr7:7q32.1		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005631.5(SMO):c.43C>G (p.Leu15Val) single nucleotide variant See cases [RCV003152654] Chr7:129189194 [GRCh38]
Chr7:128829035 [GRCh37]
Chr7:7q32.1		 benign
NM_005631.5(SMO):c.704C>T (p.Ala235Val) single nucleotide variant not provided [RCV002281414] Chr7:129205369 [GRCh38]
Chr7:128845210 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1255C>T (p.Leu419Phe) single nucleotide variant not provided [RCV002292109] Chr7:129206578 [GRCh38]
Chr7:128846419 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2284C>T (p.Arg762Cys) single nucleotide variant Inborn genetic diseases [RCV002729240] Chr7:129212371 [GRCh38]
Chr7:128852212 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1908T>G (p.Asp636Glu) single nucleotide variant Inborn genetic diseases [RCV002860457] Chr7:129211742 [GRCh38]
Chr7:128851583 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1141G>A (p.Val381Met) single nucleotide variant Inborn genetic diseases [RCV002817060] Chr7:129206464 [GRCh38]
Chr7:128846305 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2126G>A (p.Arg709Gln) single nucleotide variant Hamartoma of hypothalamus [RCV003456312]|not provided [RCV003152001] Chr7:129212213 [GRCh38]
Chr7:128852054 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2336A>C (p.Glu779Ala) single nucleotide variant Inborn genetic diseases [RCV002848899] Chr7:129212423 [GRCh38]
Chr7:128852264 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.784T>C (p.Tyr262His) single nucleotide variant Inborn genetic diseases [RCV002821367] Chr7:129205646 [GRCh38]
Chr7:128845487 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.818G>T (p.Cys273Phe) single nucleotide variant Inborn genetic diseases [RCV002781733] Chr7:129205680 [GRCh38]
Chr7:128845521 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1132G>A (p.Val378Met) single nucleotide variant Inborn genetic diseases [RCV002743532] Chr7:129206361 [GRCh38]
Chr7:128846202 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.563A>G (p.Asn188Ser) single nucleotide variant Inborn genetic diseases [RCV002915992] Chr7:129205228 [GRCh38]
Chr7:128845069 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.901A>G (p.Met301Val) single nucleotide variant Inborn genetic diseases [RCV002836260] Chr7:129205763 [GRCh38]
Chr7:128845604 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1862A>G (p.His621Arg) single nucleotide variant Inborn genetic diseases [RCV002921703] Chr7:129211696 [GRCh38]
Chr7:128851537 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.14G>C (p.Arg5Pro) single nucleotide variant Inborn genetic diseases [RCV002920074] Chr7:129189165 [GRCh38]
Chr7:128829006 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2051C>T (p.Pro684Leu) single nucleotide variant Inborn genetic diseases [RCV002673919] Chr7:129212138 [GRCh38]
Chr7:128851979 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.724G>T (p.Gly242Cys) single nucleotide variant Inborn genetic diseases [RCV002792295] Chr7:129205389 [GRCh38]
Chr7:128845230 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2329G>A (p.Asp777Asn) single nucleotide variant Inborn genetic diseases [RCV002936280] Chr7:129212416 [GRCh38]
Chr7:128852257 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1730A>G (p.His577Arg) single nucleotide variant Inborn genetic diseases [RCV002677907] Chr7:129211042 [GRCh38]
Chr7:128850883 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.385G>A (p.Val129Ile) single nucleotide variant not provided [RCV003223938] Chr7:129203437 [GRCh38]
Chr7:128843278 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1240G>A (p.Val414Met) single nucleotide variant Inborn genetic diseases [RCV003200795] Chr7:129206563 [GRCh38]
Chr7:128846404 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1405T>C (p.Cys469Arg) single nucleotide variant Inborn genetic diseases [RCV003218578] Chr7:129209336 [GRCh38]
Chr7:128849177 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2108G>C (p.Arg703Pro) single nucleotide variant Inborn genetic diseases [RCV003202900] Chr7:129212195 [GRCh38]
Chr7:128852036 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1798G>A (p.Val600Met) single nucleotide variant Hamartoma of hypothalamus [RCV003138541] Chr7:129211110 [GRCh38]
Chr7:128850951 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.206C>A (p.Pro69His) single nucleotide variant Inborn genetic diseases [RCV003281488] Chr7:129189357 [GRCh38]
Chr7:128829198 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.857T>C (p.Met286Thr) single nucleotide variant Inborn genetic diseases [RCV003220978] Chr7:129205719 [GRCh38]
Chr7:128845560 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.591G>A (p.Leu197=) single nucleotide variant not provided [RCV003327920] Chr7:129205256 [GRCh38]
Chr7:128845097 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.176C>A (p.Pro59Gln) single nucleotide variant Inborn genetic diseases [RCV003350020] Chr7:129189327 [GRCh38]
Chr7:128829168 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1868C>T (p.Thr623Ile) single nucleotide variant Inborn genetic diseases [RCV003385411] Chr7:129211702 [GRCh38]
Chr7:128851543 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1102C>G (p.Pro368Ala) single nucleotide variant Curry-Jones syndrome [RCV003458968] Chr7:129206331 [GRCh38]
Chr7:128846172 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.771G>A (p.Arg257=) single nucleotide variant Curry-Jones syndrome [RCV003458981] Chr7:129205633 [GRCh38]
Chr7:128845474 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1358-3C>T single nucleotide variant Hamartoma of hypothalamus [RCV003455876] Chr7:129209286 [GRCh38]
Chr7:128849127 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.537G>A (p.Thr179=) single nucleotide variant Curry-Jones syndrome [RCV003458999] Chr7:129203589 [GRCh38]
Chr7:128843430 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.596G>A (p.Arg199Gln) single nucleotide variant not provided [RCV003457520] Chr7:129205261 [GRCh38]
Chr7:128845102 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1791C>T (p.Asp597=) single nucleotide variant Inborn genetic diseases [RCV004364734]|not provided [RCV003457521] Chr7:129211103 [GRCh38]
Chr7:128850944 [GRCh37]
Chr7:7q32.1		 likely benign
GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1 copy number loss not provided [RCV003482986] Chr7:127076892..129405807 [GRCh37]
Chr7:7q31.33-32.2		 pathogenic
NM_005631.5(SMO):c.430C>T (p.Arg144Cys) single nucleotide variant SMO-related disorder [RCV003399778] Chr7:129203482 [GRCh38]
Chr7:128843323 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1772T>C (p.Met591Thr) single nucleotide variant SMO-related disorder [RCV003405822] Chr7:129211084 [GRCh38]
Chr7:128850925 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.173C>T (p.Pro58Leu) single nucleotide variant Hamartoma of hypothalamus [RCV003455871] Chr7:129189324 [GRCh38]
Chr7:128829165 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2265C>T (p.Pro755=) single nucleotide variant not provided [RCV003423765] Chr7:129212352 [GRCh38]
Chr7:128852193 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1979A>G (p.Glu660Gly) single nucleotide variant SMO-related disorder [RCV003402079] Chr7:129212066 [GRCh38]
Chr7:128851907 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2196G>A (p.Leu732=) single nucleotide variant not provided [RCV003434133] Chr7:129212283 [GRCh38]
Chr7:128852124 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1942C>A (p.Pro648Thr) single nucleotide variant not provided [RCV003434132] Chr7:129212029 [GRCh38]
Chr7:128851870 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.880G>A (p.Val294Ile) single nucleotide variant SMO-related disorder [RCV003405969] Chr7:129205742 [GRCh38]
Chr7:128845583 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
NM_005631.5(SMO):c.516C>T (p.Asp172=) single nucleotide variant SMO-related disorder [RCV003976889] Chr7:129203568 [GRCh38]
Chr7:128843409 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.1140+7T>C single nucleotide variant SMO-related disorder [RCV003971810] Chr7:129206376 [GRCh38]
Chr7:128846217 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.512C>G (p.Pro171Arg) single nucleotide variant Inborn genetic diseases [RCV004461989] Chr7:129203564 [GRCh38]
Chr7:128843405 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1262G>A (p.Arg421Gln) single nucleotide variant Inborn genetic diseases [RCV004461983] Chr7:129206585 [GRCh38]
Chr7:128846426 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2192C>T (p.Thr731Ile) single nucleotide variant Inborn genetic diseases [RCV004461986] Chr7:129212279 [GRCh38]
Chr7:128852120 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.13C>T (p.Arg5Cys) single nucleotide variant Inborn genetic diseases [RCV004461984] Chr7:129189164 [GRCh38]
Chr7:128829005 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2318C>T (p.Thr773Ile) single nucleotide variant Inborn genetic diseases [RCV004461987] Chr7:129212405 [GRCh38]
Chr7:128852246 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2326A>G (p.Met776Val) single nucleotide variant Inborn genetic diseases [RCV004461988] Chr7:129212413 [GRCh38]
Chr7:128852254 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.688A>G (p.Met230Val) single nucleotide variant Inborn genetic diseases [RCV004461990] Chr7:129205353 [GRCh38]
Chr7:128845194 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1462G>A (p.Val488Met) single nucleotide variant Inborn genetic diseases [RCV004461985] Chr7:129209393 [GRCh38]
Chr7:128849234 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1801+6C>G single nucleotide variant SMO-related disorder [RCV003904232] Chr7:129211119 [GRCh38]
Chr7:128850960 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.244G>C (p.Val82Leu) single nucleotide variant Hamartoma of hypothalamus [RCV004560427] Chr7:129189395 [GRCh38]
Chr7:128829236 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.979G>A (p.Ala327Thr) single nucleotide variant Hamartoma of hypothalamus [RCV004560379] Chr7:129206208 [GRCh38]
Chr7:128846049 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2332A>G (p.Thr778Ala) single nucleotide variant Inborn genetic diseases [RCV004667887] Chr7:129212419 [GRCh38]
Chr7:128852260 [GRCh37]
Chr7:7q32.1		 likely benign
NM_005631.5(SMO):c.300G>C (p.Glu100Asp) single nucleotide variant Inborn genetic diseases [RCV004667883] Chr7:129189451 [GRCh38]
Chr7:128829292 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1810G>A (p.Ala604Thr) single nucleotide variant Inborn genetic diseases [RCV004667885] Chr7:129211644 [GRCh38]
Chr7:128851485 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.836T>C (p.Ile279Thr) single nucleotide variant Inborn genetic diseases [RCV004667888] Chr7:129205698 [GRCh38]
Chr7:128845539 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1900C>T (p.Pro634Ser) single nucleotide variant not provided [RCV004592161] Chr7:129211734 [GRCh38]
Chr7:128851575 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.1793G>A (p.Gly598Glu) single nucleotide variant Inborn genetic diseases [RCV004667889] Chr7:129211105 [GRCh38]
Chr7:128850946 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_005631.5(SMO):c.2011C>T (p.Arg671Trp) single nucleotide variant Inborn genetic diseases [RCV004667886] Chr7:129212098 [GRCh38]
Chr7:128851939 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR324hsa-miR-324-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20216554
MIR324hsa-miR-324-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18756266
MIR324hsa-miR-324-5pMirecordsexternal_info{changed}NA18756266
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20216554
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18756266
MIR326hsa-miR-326Mirtarbaseexternal_infoWestern blotFunctional MTI23341351
MIR326hsa-miR-326Mirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20216554
MIR326hsa-miR-326Mirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18756266
MIR326hsa-miR-326Mirecordsexternal_info{changed}NA18756266
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20216554
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18756266
MIR338hsa-miR-338-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI21671467
MIR338hsa-miR-338-3pTarbaseexternal_infoqPCRPOSITIVE
MIR338hsa-miR-338-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR338hsa-miR-338-3pOncomiRDBexternal_infoNANA21671467

Predicted Target Of
Summary Value
Count of predictions:1400
Count of miRNA genes:780
Interacting mature miRNAs:939
Transcripts:ENST00000249373, ENST00000462420, ENST00000475779, ENST00000495998
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407069090GWAS718066_Hsystemic lupus erythematosus QTL GWAS718066 (human)1e-09systemic lupus erythematosus7129210326129210327Human
407091108GWAS740084_Hosteoarthritis, hip QTL GWAS740084 (human)8e-12osteoarthritis, hip7129203569129203570Human
406947851GWAS596827_Hosteoarthritis, hip QTL GWAS596827 (human)2e-14osteoarthritis, hip7129203569129203570Human
407201278GWAS850254_Htotal hip arthroplasty, osteoarthritis QTL GWAS850254 (human)1e-11total hip arthroplasty, osteoarthritis7129203569129203570Human

Markers in Region
RH121944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,852,774 - 128,852,922UniSTSGRCh37
Build 367128,640,010 - 128,640,158RGDNCBI36
Celera7123,649,497 - 123,649,645RGD
Cytogenetic Map7q32.3UniSTS
HuRef7123,214,014 - 123,214,162UniSTS
CRA_TCAGchr7v27128,236,733 - 128,236,881UniSTS
TNG Radiation Hybrid Map757893.0UniSTS
SMO_853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,852,417 - 128,853,310UniSTSGRCh37
Build 367128,639,653 - 128,640,546RGDNCBI36
Celera7123,649,140 - 123,650,033RGD
HuRef7123,213,657 - 123,214,550UniSTS
CRA_TCAGchr7v27128,236,376 - 128,237,269UniSTS
RH16231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,853,212 - 128,853,349UniSTSGRCh37
Build 367128,640,448 - 128,640,585RGDNCBI36
Celera7123,649,935 - 123,650,072RGD
Cytogenetic Map7q32.3UniSTS
HuRef7123,214,452 - 123,214,589UniSTS
CRA_TCAGchr7v27128,237,171 - 128,237,308UniSTS
GeneMap99-GB4 RH Map7588.28UniSTS
NCBI RH Map71192.6UniSTS
RH12557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,852,803 - 128,852,943UniSTSGRCh37
Build 367128,640,039 - 128,640,179RGDNCBI36
Celera7123,649,526 - 123,649,666RGD
Cytogenetic Map7q32.3UniSTS
HuRef7123,214,043 - 123,214,183UniSTS
CRA_TCAGchr7v27128,236,762 - 128,236,902UniSTS
GeneMap99-GB4 RH Map7588.28UniSTS
NCBI RH Map71192.6UniSTS
MARC_16819-16820:1021560442:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,845,577 - 128,846,346UniSTSGRCh37
Build 367128,632,813 - 128,633,582RGDNCBI36
Celera7123,642,300 - 123,643,069RGD
CRA_TCAGchr7v27128,229,536 - 128,230,305UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF089720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF120103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT360842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U84401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000249373   ⟹   ENSP00000249373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,188,633 - 129,213,545 (+)Ensembl
Ensembl Acc Id: ENST00000462420   ⟹   ENSP00000418720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,206,150 - 129,211,128 (+)Ensembl
Ensembl Acc Id: ENST00000475779   ⟹   ENSP00000420749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,210,508 - 129,212,152 (+)Ensembl
Ensembl Acc Id: ENST00000495998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,206,285 - 129,209,281 (+)Ensembl
Ensembl Acc Id: ENST00000655644   ⟹   ENSP00000499377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7129,188,695 - 129,213,536 (+)Ensembl
RefSeq Acc Id: NM_005631   ⟹   NP_005622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,188,633 - 129,213,545 (+)NCBI
GRCh377128,828,713 - 128,853,386 (+)ENTREZGENE
Build 367128,615,949 - 128,640,622 (+)NCBI Archive
HuRef7123,189,938 - 123,214,626 (+)ENTREZGENE
CHM1_17128,762,307 - 128,786,971 (+)NCBI
T2T-CHM13v2.07130,501,540 - 130,526,468 (+)NCBI
CRA_TCAGchr7v27128,212,668 - 128,237,345 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047420759   ⟹   XP_047276715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,188,633 - 129,213,545 (+)NCBI
RefSeq Acc Id: XM_054358862   ⟹   XP_054214837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07130,501,540 - 130,526,468 (+)NCBI
RefSeq Acc Id: NP_005622   ⟸   NM_005631
- Peptide Label: precursor
- UniProtKB: A4D1K5 (UniProtKB/Swiss-Prot),   Q99835 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000499377   ⟸   ENST00000655644
Ensembl Acc Id: ENSP00000249373   ⟸   ENST00000249373
Ensembl Acc Id: ENSP00000420749   ⟸   ENST00000475779
Ensembl Acc Id: ENSP00000418720   ⟸   ENST00000462420
RefSeq Acc Id: XP_047276715   ⟸   XM_047420759
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214837   ⟸   XM_054358862
- Peptide Label: isoform X1
Protein Domains
FZ   G-protein coupled receptors family 2 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99835-F1-model_v2 AlphaFold Q99835 1-787 view protein structure

Promoters
RGD ID:6806204
Promoter ID:HG_KWN:59656
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_005631
Position:
Human AssemblyChrPosition (strand)Source
Build 367128,615,631 - 128,616,442 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11119 AgrOrtholog
COSMIC SMO COSMIC
Ensembl Genes ENSG00000128602 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000249373 ENTREZGENE
  ENST00000249373.8 UniProtKB/Swiss-Prot
  ENST00000462420.2 UniProtKB/TrEMBL
  ENST00000475779.1 UniProtKB/TrEMBL
  ENST00000655644.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128602 GTEx
HGNC ID HGNC:11119 ENTREZGENE
Human Proteome Map SMO Human Proteome Map
InterPro Frizzled/SFRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled/Smoothened_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom UniProtKB/Swiss-Prot
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMO_7TM UniProtKB/Swiss-Prot
  SMO_CRD UniProtKB/Swiss-Prot
KEGG Report hsa:6608 UniProtKB/Swiss-Prot
NCBI Gene 6608 ENTREZGENE
OMIM 601500 OMIM
PANTHER PTHR11309 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11309:SF35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Frizzled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot
PharmGKB PA35968 PharmGKB, RGD
PRINTS FRIZZLED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50038 UniProtKB/Swiss-Prot
SMART FRI UniProtKB/Swiss-Prot
  Frizzled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63501 UniProtKB/Swiss-Prot
UniProt A0A590UJE7_HUMAN UniProtKB/TrEMBL
  A0A6M5WQP3_HUMAN UniProtKB/TrEMBL
  A4D1K5 ENTREZGENE
  H7C509_HUMAN UniProtKB/TrEMBL
  H7C5S9_HUMAN UniProtKB/TrEMBL
  Q99835 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D1K5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-02-04 SMO  smoothened, frizzled class receptor  SMO  smoothened, frizzled family receptor  Symbol and/or name change 5135510 APPROVED
2011-07-27 SMO  smoothened, frizzled family receptor  SMO  smoothened homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED