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SMO (smoothened, frizzled class receptor)

Identity

Alias (NCBI)CRJS
FZD11
Gx
PHLS
SMOH
HGNC (Hugo) SMO
HGNC Alias symbFZD11
HGNC Alias namefrizzled family member 11
HGNC Previous nameSMOH
HGNC Previous namesmoothened (Drosophila) homolog
 smoothened homolog (Drosophila)
 smoothened, seven transmembrane spanning receptor
 smoothened, frizzled family receptor
LocusID (NCBI) 6608
Atlas_Id 42340
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 129188633 and ends at 129213544 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    smoothened, frizzled class receptor
AliasesCRJS; FZD11; Gx; PHLS; 
SMOH
GeneCards (Weizmann)SMO
Ensembl hg19 (Hinxton)ENSG00000128602 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128602 [Gene_View]  ENSG00000128602 [Sequence]  chr7:129188633-129213544 [Contig_View]  SMO [Vega]
ICGC DataPortalENSG00000128602
TCGA cBioPortalSMO
AceView (NCBI)SMO
Genatlas (Paris)SMO
SOURCE (Princeton)SMO
Genetics Home Reference (NIH)SMO
Genomic and cartography
GoldenPath hg38 (UCSC)SMO  -     chr7:129188633-129213544 +  7q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMO  -     7q32.1   [Description]    (hg19-Feb_2009)
GoldenPathSMO - 7q32.1 [CytoView hg19]  SMO - 7q32.1 [CytoView hg38]
ImmunoBaseENSG00000128602
Genome Data Viewer NCBISMO [Mapview hg19]  
OMIM241800   601500   601707   605462   
Gene and transcription
Genbank (Entrez)AF071494 AF089720 AF120103 AF130867 AU132302
RefSeq transcript (Entrez)NM_005631
Consensus coding sequences : CCDS (NCBI)SMO
Gene ExpressionSMO [ NCBI-GEO ]   SMO [ EBI - ARRAY_EXPRESS ]   SMO [ SEEK ]   SMO [ MEM ]
Gene Expression Viewer (FireBrowse)SMO [ Firebrowse - Broad ]
GenevisibleExpression of SMO in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6608
GTEX Portal (Tissue expression)SMO
Human Protein AtlasENSG00000128602-SMO [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ99835
Domaine pattern : Prosite (Expaxy)FZ (PS50038)    G_PROTEIN_RECEP_F2_4 (PS50261)   
Domains : Interpro (EBI)Frizzled/SFRP    Frizzled/Smoothened_TM    Frizzled_dom    Frizzled_dom_sf    GPCR_2-like    SMO    SMO_CRD   
Domain families : Pfam (Sanger)Frizzled (PF01534)    Fz (PF01392)   
Domain families : Pfam (NCBI)pfam01534    pfam01392   
Domain families : Smart (EMBL)FRI (SM00063)  Frizzled (SM01330)  
Conserved Domain (NCBI)SMO
PDB (RSDB)4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
PDB Europe4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
PDB (PDBSum)4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
PDB (IMB)4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
Structural Biology KnowledgeBase4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
SCOP (Structural Classification of Proteins)4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
CATH (Classification of proteins structures)4JKV    4N4W    4O9R    4QIM    4QIN    5L7D    5L7I    5V56    5V57    6OT0    6XBJ    6XBK    6XBL    6XBM   
SuperfamilyQ99835
AlphaFold pdb e-kbQ99835   
Human Protein Atlas [tissue]ENSG00000128602-SMO [tissue]
HPRD03294
Protein Interaction databases
DIP (DOE-UCLA)Q99835
IntAct (EBI)Q99835
BioGRIDSMO
STRING (EMBL)SMO
ZODIACSMO
Ontologies - Pathways
QuickGOQ99835
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  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  patched binding  protein binding  Golgi apparatus  plasma membrane  plasma membrane  caveola  cilium  cilium  cilium  cilium  G protein-coupled receptor signaling pathway  smoothened signaling pathway  smoothened signaling pathway  smoothened signaling pathway  positive regulation of hh target transcription factor activity  ventral midline determination  central nervous system development  midgut development  anterior/posterior pattern specification  positive regulation of gene expression  positive regulation of gene expression  negative regulation of gene expression  integral component of membrane  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  positive regulation of cell migration  dendrite  endocytic vesicle membrane  negative regulation of epithelial cell differentiation  hair follicle morphogenesis  protein localization to nucleus  multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  negative regulation of apoptotic process  intracellular membrane-bounded organelle  negative regulation of DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription by RNA polymerase II  positive regulation of organ growth  astrocyte activation  skeletal muscle fiber development  smooth muscle tissue 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  ciliary membrane  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  commissural neuron axon guidance  mesenchymal to epithelial transition involved in metanephric renal vesicle formation  positive regulation of branching involved in ureteric bud morphogenesis  ciliary tip  9+0 non-motile cilium  regulation of stem cell population maintenance  regulation of heart morphogenesis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  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  patched binding  protein binding  Golgi apparatus  plasma membrane  plasma membrane  caveola  cilium  cilium  cilium  cilium  G protein-coupled receptor signaling pathway  smoothened signaling pathway  smoothened signaling pathway  smoothened signaling pathway  positive regulation of hh target transcription factor activity  ventral midline determination  central nervous system development  midgut development  anterior/posterior pattern specification  positive regulation of gene expression  positive regulation of gene expression  negative regulation of gene expression  integral component of membrane  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  positive regulation of cell migration  dendrite  endocytic vesicle membrane  negative regulation of epithelial cell differentiation  hair follicle morphogenesis  protein localization to nucleus  multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of protein import into nucleus  odontogenesis of dentin-containing tooth  negative regulation of apoptotic process  intracellular membrane-bounded organelle  negative regulation of DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription by RNA polymerase II  positive regulation of organ growth  astrocyte activation  skeletal muscle fiber development  smooth muscle tissue 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  ciliary membrane  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  commissural neuron axon guidance  mesenchymal to epithelial transition involved in metanephric renal vesicle formation  positive regulation of branching involved in ureteric bud morphogenesis  ciliary tip  9+0 non-motile cilium  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
Homologs : HomoloGeneSMO
Homology/Alignments : Family Browser (UCSC)SMO
Gene fusions - Rearrangements
Fusion : MitelmanZKSCAN5/SMO [7q22.1/7q32.1]  
Fusion : QuiverSMO
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMO [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMO
dbVarSMO
ClinVarSMO
MonarchSMO
1000_GenomesSMO 
Exome Variant ServerSMO
GNOMAD BrowserENSG00000128602
Varsome BrowserSMO
ACMGSMO variants
VarityQ99835
Genomic Variants (DGV)SMO [DGVbeta]
DECIPHERSMO [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSMO
Mutations and Diseases : HGMDSMO
intOGen PortalSMO
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMO
DgiDB (Drug Gene Interaction Database)SMO
DoCM (Curated mutations)SMO
CIViC (Clinical Interpretations of Variants in Cancer)SMO
Cancer3DSMO
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM241800    601500    601707    605462   
Orphanet1705   
DisGeNETSMO
MedgenSMO
Genetic Testing Registry SMO
NextProtQ99835 [Medical]
GENETestsSMO
Target ValidationSMO
Huge Navigator SMO [HugePedia]
ClinGenSMO
Clinical trials, drugs, therapy
MyCancerGenomeSMO
Protein Interactions : CTDSMO
Pharm GKB GenePA35968
PharosQ99835
Drug Sensitivity SMO
Clinical trialSMO
Miscellaneous
canSAR (ICR)SMO
HarmonizomeSMO
DataMed IndexSMO
Probes
Litterature
PubMed148 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMO
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:15 CEST 2021

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