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SMO (smoothened, frizzled class receptor)

Identity

Alias_namesSMOH
smoothened (Drosophila) homolog
smoothened homolog (Drosophila)
smoothened, seven transmembrane spanning receptor
smoothened, frizzled family receptor
Alias_symbol (synonym)FZD11
Other aliasGx
HGNC (Hugo) SMO
LocusID (NCBI) 6608
Atlas_Id 42340
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 128828713 and ends at 128853385 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SMO (7q32.1) / CAMK1D (10p13)SMO (7q32.1) / CHCHD3 (7q32.3)SMO (7q32.1) / NPAS3 (14q13.1)
SMO (7q32.1) / SMO (7q32.1)ZKSCAN5 (7q22.1) / SMO (7q32.1)ZKSCAN5 7q22.1 / SMO 7q32.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SMO   11119
Cards
Entrez_Gene (NCBI)SMO  6608  smoothened, frizzled class receptor
AliasesFZD11; Gx; SMOH
GeneCards (Weizmann)SMO
Ensembl hg19 (Hinxton)ENSG00000128602 [Gene_View]  chr7:128828713-128853385 [Contig_View]  SMO [Vega]
Ensembl hg38 (Hinxton)ENSG00000128602 [Gene_View]  chr7:128828713-128853385 [Contig_View]  SMO [Vega]
ICGC DataPortalENSG00000128602
TCGA cBioPortalSMO
AceView (NCBI)SMO
Genatlas (Paris)SMO
WikiGenes6608
SOURCE (Princeton)SMO
Genetics Home Reference (NIH)SMO
Genomic and cartography
GoldenPath hg19 (UCSC)SMO  -     chr7:128828713-128853385 +  7q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMO  -     7q32.1   [Description]    (hg38-Dec_2013)
EnsemblSMO - 7q32.1 [CytoView hg19]  SMO - 7q32.1 [CytoView hg38]
Mapping of homologs : NCBISMO [Mapview hg19]  SMO [Mapview hg38]
OMIM601500   
Gene and transcription
Genbank (Entrez)AF071494 AF089720 AF120103 AF130867 AU132302
RefSeq transcript (Entrez)NM_005631
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_023340 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)SMO
Cluster EST : UnigeneHs.437846 [ NCBI ]
CGAP (NCI)Hs.437846
Alternative Splicing GalleryENSG00000128602
Gene ExpressionSMO [ NCBI-GEO ]   SMO [ EBI - ARRAY_EXPRESS ]   SMO [ SEEK ]   SMO [ MEM ]
Gene Expression Viewer (FireBrowse)SMO [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6608
GTEX Portal (Tissue expression)SMO
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99835   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99835  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99835
Splice isoforms : SwissVarQ99835
PhosPhoSitePlusQ99835
Domaine pattern : Prosite (Expaxy)FZ (PS50038)    G_PROTEIN_RECEP_F2_4 (PS50261)   
Domains : Interpro (EBI)Frizzled    Frizzled/SFRP    Frizzled_dom    GPCR_2-like    SMO   
Domain families : Pfam (Sanger)Frizzled (PF01534)    Fz (PF01392)   
Domain families : Pfam (NCBI)pfam01534    pfam01392   
Domain families : Smart (EMBL)FRI (SM00063)  
Conserved Domain (NCBI)SMO
DMDM Disease mutations6608
Blocks (Seattle)SMO
PDB (SRS)4JKV    4N4W    4O9R    4QIM    4QIN   
PDB (PDBSum)4JKV    4N4W    4O9R    4QIM    4QIN   
PDB (IMB)4JKV    4N4W    4O9R    4QIM    4QIN   
PDB (RSDB)4JKV    4N4W    4O9R    4QIM    4QIN   
Structural Biology KnowledgeBase4JKV    4N4W    4O9R    4QIM    4QIN   
SCOP (Structural Classification of Proteins)4JKV    4N4W    4O9R    4QIM    4QIN   
CATH (Classification of proteins structures)4JKV    4N4W    4O9R    4QIM    4QIN   
SuperfamilyQ99835
Human Protein AtlasENSG00000128602
Peptide AtlasQ99835
HPRD03294
IPIIPI00018471   IPI00946279   IPI00946088   
Protein Interaction databases
DIP (DOE-UCLA)Q99835
IntAct (EBI)Q99835
FunCoupENSG00000128602
BioGRIDSMO
STRING (EMBL)SMO
ZODIACSMO
Ontologies - Pathways
QuickGOQ99835
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  vasculogenesis  osteoblast differentiation  in utero embryonic development  cell fate specification  neural crest cell migration  heart looping  positive regulation of neuroblast proliferation  positive regulation of mesenchymal cell proliferation  determination of left/right asymmetry in lateral mesoderm  type B pancreatic cell development  G-protein coupled receptor activity  patched binding  protein binding  Golgi apparatus  plasma membrane  caveola  G-protein coupled receptor signaling pathway  smoothened signaling pathway  smoothened signaling pathway  positive regulation of hh target transcription factor activity  ventral midline determination  midgut development  drug binding  anterior/posterior pattern specification  positive regulation of gene expression  negative regulation of gene expression  integral component of membrane  Wnt-protein binding  dentate gyrus development  cerebellar cortex morphogenesis  thalamus development  dorsal/ventral neural tube patterning  smoothened signaling pathway involved in ventral spinal cord patterning  smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation  central nervous system neuron differentiation  cerebral cortex development  endocytic vesicle membrane  negative regulation of epithelial cell differentiation  hair follicle morphogenesis  protein localization to nucleus  multicellular organism growth  non-canonical Wnt signaling pathway  positive regulation of multicellular organism growth  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  Wnt-activated receptor activity  negative regulation of apoptotic process  intracellular membrane-bounded organelle  negative regulation of DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of organ growth  astrocyte activation  skeletal muscle fiber development  forebrain morphogenesis  homeostasis of number of cells within a tissue  positive regulation of epithelial cell proliferation  protein stabilization  myoblast migration  negative regulation of hair follicle development  canonical Wnt signaling pathway  ciliary membrane  detection of cell density by contact stimulus involved in contact inhibition  atrial septum morphogenesis  mammary gland epithelial cell differentiation  epithelial-mesenchymal cell signaling  somite development  pancreas morphogenesis  extracellular exosome  left/right axis specification  cellular response to cholesterol  renal system development  mesenchymal to epithelial transition involved in metanephric renal vesicle formation  primary cilium  positive regulation of branching involved in ureteric bud morphogenesis  ciliary tip  regulation of stem cell population maintenance  regulation of heart morphogenesis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  vasculogenesis  osteoblast differentiation  in utero embryonic development  cell fate specification  neural crest cell migration  heart looping  positive regulation of neuroblast proliferation  positive regulation of mesenchymal cell proliferation  determination of left/right asymmetry in lateral mesoderm  type B pancreatic cell development  G-protein coupled receptor activity  patched binding  protein binding  Golgi apparatus  plasma membrane  caveola  G-protein coupled receptor signaling pathway  smoothened signaling pathway  smoothened signaling pathway  positive regulation of hh target transcription factor activity  ventral midline determination  midgut development  drug binding  anterior/posterior pattern specification  positive regulation of gene expression  negative regulation of gene expression  integral component of membrane  Wnt-protein binding  dentate gyrus development  cerebellar cortex morphogenesis  thalamus development  dorsal/ventral neural tube patterning  smoothened signaling pathway involved in ventral spinal cord patterning  smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation  central nervous system neuron differentiation  cerebral cortex development  endocytic vesicle membrane  negative regulation of epithelial cell differentiation  hair follicle morphogenesis  protein localization to nucleus  multicellular organism growth  non-canonical Wnt signaling pathway  positive regulation of multicellular organism growth  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  Wnt-activated receptor activity  negative regulation of apoptotic process  intracellular membrane-bounded organelle  negative regulation of DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of organ growth  astrocyte activation  skeletal muscle fiber development  forebrain morphogenesis  homeostasis of number of cells within a tissue  positive regulation of epithelial cell proliferation  protein stabilization  myoblast migration  negative regulation of hair follicle development  canonical Wnt signaling pathway  ciliary membrane  detection of cell density by contact stimulus involved in contact inhibition  atrial septum morphogenesis  mammary gland epithelial cell differentiation  epithelial-mesenchymal cell signaling  somite development  pancreas morphogenesis  extracellular exosome  left/right axis specification  cellular response to cholesterol  renal system development  mesenchymal to epithelial transition involved in metanephric renal vesicle formation  primary cilium  positive regulation of branching involved in ureteric bud morphogenesis  ciliary tip  regulation of stem cell population maintenance  regulation of heart morphogenesis  
Pathways : BIOCARTASonic Hedgehog (Shh) Pathway [Genes]   
Pathways : KEGGHedgehog signaling pathway    Pathways in cancer    Proteoglycans in cancer    Basal cell carcinoma   
NDEx NetworkSMO
Atlas of Cancer Signalling NetworkSMO
Wikipedia pathwaysSMO
Orthology - Evolution
OrthoDB6608
GeneTree (enSembl)ENSG00000128602
Phylogenetic Trees/Animal Genes : TreeFamSMO
HOVERGENQ99835
HOGENOMQ99835
Homologs : HomoloGeneSMO
Homology/Alignments : Family Browser (UCSC)SMO
Gene fusions - Rearrangements
Fusion : MitelmanZKSCAN5/SMO [7q22.1/7q32.1]  [t(7;7)(q22;q32)]  
Fusion: TCGAZKSCAN5 7q22.1 SMO 7q32.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMO [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMO
dbVarSMO
ClinVarSMO
1000_GenomesSMO 
Exome Variant ServerSMO
ExAC (Exome Aggregation Consortium)SMO (select the gene name)
Genetic variants : HAPMAP6608
Genomic Variants (DGV)SMO [DGVbeta]
DECIPHER (Syndromes)7:128828713-128853385  ENSG00000128602
CONAN: Copy Number AnalysisSMO 
Mutations
ICGC Data PortalSMO 
TCGA Data PortalSMO 
Broad Tumor PortalSMO
OASIS PortalSMO [ Somatic mutations - Copy number]
Cancer Gene: CensusSMO 
Somatic Mutations in Cancer : COSMICSMO  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMO
intOGen PortalSMO
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMO
DgiDB (Drug Gene Interaction Database)SMO
DoCM (Curated mutations)SMO (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMO (select a term)
intoGenSMO
Cancer3DSMO(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601500   
Orphanet1705   
MedgenSMO
Genetic Testing Registry SMO
NextProtQ99835 [Medical]
TSGene6608
GENETestsSMO
Huge Navigator SMO [HugePedia]
snp3D : Map Gene to Disease6608
BioCentury BCIQSMO
ClinGenSMO
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6608
Chemical/Pharm GKB GenePA35968
Drug Sensitivity SMO
Clinical trialSMO
Miscellaneous
canSAR (ICR)SMO (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMO
EVEXSMO
GoPubMedSMO
iHOPSMO
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:28:19 CET 2017

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