Gene Gene information from NCBI Gene database.
Entrez ID 6608
Gene name Smoothened, frizzled class receptor
Gene symbol SMO
Synonyms (NCBI Gene)
CRJSFZD11GxPHLSSMOH
Chromosome 7
Chromosome location 7q32.1
Summary 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 comp
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs17710891 G>A,C Pathogenic, not-provided Missense variant, coding sequence variant
rs121918347 G>T Pathogenic Missense variant, coding sequence variant
rs121918348 G>A Pathogenic Missense variant, coding sequence variant
rs879255280 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
68
miRTarBase ID miRNA Experiments Reference
MIRT000527 hsa-miR-324-5p ReviewLuciferase reporter assayWestern blot 20216554
MIRT000526 hsa-miR-326 ReviewLuciferase reporter assayWestern blot 20216554
MIRT000525 hsa-miR-125b-5p ReviewLuciferase reporter assayWestern blot 20216554
MIRT000527 hsa-miR-324-5p Luciferase reporter assayWestern blot 18756266
MIRT000526 hsa-miR-326 Luciferase reporter assayWestern blot 18756266
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GLI3 Activation 15072830
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
147
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001503 Process Ossification IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001649 Process Osteoblast differentiation IEA
GO:0001701 Process In utero embryonic development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601500 11119 ENSG00000128602
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99835
Protein name Protein smoothened (Protein Gx)
Protein function G protein-coupled receptor which associates with the patched protein (PTCH) to transduce hedgehog protein signaling. Binding of sonic hedgehog (SHH) to its receptor patched prevents inhibition of smoothened (SMO) by patched. When active, SMO bin
PDB 4JKV , 4N4W , 4O9R , 4QIM , 4QIN , 5L7D , 5L7I , 5V56 , 5V57 , 6OT0 , 6XBJ , 6XBK , 6XBL , 6XBM , 7ZI0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 70 179 Fz domain Domain
PF01534 Frizzled 221 552 Frizzled/Smoothened family membrane region Family
Sequence
MAAARPARGPELPLLGLLLLLLLGDPGRGAASSGNATGPGPRSAGGSARRSAAVTGPPPP
LSHCGRAAPCEPLRYNVCLGSVLPYGATSTLLAGDSDSQEEAHGKLVLWSGLRNAPRCWA
VIQPLLCAVYMPKCENDRVELPSRTLCQATRGPCAIVERERGWPDFLRCTPDRFPEGCT
N
EVQNIKFNSSGQCEVPLVRTDNPKSWYEDVEGCGIQCQNPLFTEAEHQDMHSYIAAFGAV
TGLCTLFTLATFVADWRNSNRYPAVILFYVNACFFVGSIGWLAQFMDGARREIVCRADGT
MRLGEPTSNETLSCVIIFVIVYYALMAGVVWFVVLTYAWHTSFKALGTTYQPLSGKTSYF
HLLTWSLPFVLTVAILAVAQVDGDSVSGICFVGYKNYRYRAGFVLAPIGLVLIVGGYFLI
RGVMTLFSIKSNHPGLLSEKAASKINETMLRLGIFGFLAFGFVLITFSCHFYDFFNQAEW
ERSFRDYVLCQANVTIGLPTKQPIPDCEIKNRPSLLVEKINLFAMFGTGIAMSTWVWTKA
TLLIWRRTWCRL
TGQSDDEPKRIKKSKMIAKAFSKRHELLQNPGQELSFSMHTVSHDGPV
AGLAFDLNEPSADVSSAWAQHVTKMVARRGAILPQDISVTPVATPVPPEEQANLWLVEAE
ISPELQKRLGRKKKRRKRKKEVCPLAPPPELHPPAPAPSTIPRLPQLPRQKCLVAAGAWG
AGDSCRQGAWTLVSNPFCPEPSPPQDPFLPSAPAPVAWAHGRRQGLGPIHSRTNLMDTEL
MDADSDF
Sequence length 787
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hedgehog signaling pathway
Axon guidance
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
  Hedgehog 'off' state
BBSome-mediated cargo-targeting to cilium
Hedgehog 'on' state
Activation of SMO
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
69
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Basal cell carcinoma, somatic Pathogenic rs121918347, rs121918348 RCV000008586
RCV000008587
Congenital hypothalamic hamartoma syndrome Pathogenic; Likely pathogenic rs1157132860, rs755698791, rs1006687669, rs577512487, rs767688088, rs1793814652, rs1793751061, rs766211091 RCV001251439
RCV001251440
RCV001251441
RCV001251442
RCV001251443
RCV001251444
RCV001261987
RCV001261988
Curry-Jones syndrome Pathogenic rs879255280 RCV000236033
Medulloblastoma WNT activated Pathogenic rs879255280 RCV006253925
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Basal cell carcinoma, susceptibility to, 1 Benign; Likely benign rs56318556 RCV002505342
Colorectal cancer Conflicting classifications of pathogenicity rs111694017 RCV005890459
Gastric cancer Conflicting classifications of pathogenicity rs111694017 RCV005890460
Hepatocellular carcinoma Likely benign rs199960351 RCV005896655
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 19463780
Adamantinoma Associate 32413283
Adenoameloblastoma Associate 33144428
Adenocarcinoma Associate 26317919
Alkaptonuria Associate 28019670
Ameloblastoma Associate 24859340, 25854168, 27236920, 29388014, 30216733, 32096304, 35689405
Arthritis Rheumatoid Associate 24741597, 26189371, 35785032
Astrocytoma Associate 28082415
Atrioventricular Septal Defect Associate 32413283
Basal Cell Nevus Syndrome Associate 25189937, 31758086, 38157930