Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6608
Gene name Gene Name - the full gene name approved by the HGNC.
Smoothened, frizzled class receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMO
Synonyms (NCBI Gene) Gene synonyms aliases
CRJS, FZD11, Gx, PHLS, SMOH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRJS, PHLS
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000527 hsa-miR-324-5p Review, Luciferase reporter assay, Western blot 20216554
MIRT000526 hsa-miR-326 Review, Luciferase reporter assay, Western blot 20216554
MIRT000525 hsa-miR-125b-5p Review, Luciferase reporter assay, Western blot 20216554
MIRT000527 hsa-miR-324-5p Luciferase reporter assay, Western blot 18756266
MIRT000526 hsa-miR-326 Luciferase reporter assay, Western blot 18756266
Transcription factors
Transcription factor Regulation Reference
GLI3 Activation 15072830
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001649 Process Osteoblast differentiation IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001708 Process Cell fate specification IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601500 11119 ENSG00000128602
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Carcinoma Basal cell carcinoma, Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 22679179, 9581815, 26950094, 25759020, 19726788
Carcinoma, somatic BASAL CELL CARCINOMA, SOMATIC rs587776628, rs121918347, rs121918348, rs587776689, rs137853214, rs137853215, rs137853216
Congenital ocular coloboma Congenital ocular coloboma (disorder) rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Unknown
Disease term Disease name Evidence References Source
Brain neoplasms Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain 9581815 ClinVar
Hamartoma Hamartoma, congenital hypothalamic hamartoma syndrome ClinVar, GenCC
Microcystic meningioma Microcystic meningioma 23334667 ClinVar
Hirschsprung Disease Hirschsprung disease GenCC
Associations from Text Mining
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