ENSG00000128602


Homo sapiens

Features
Gene ID: ENSG00000128602
  
Biological name :SMO
  
Synonyms : Q99835 / SMO / smoothened, frizzled class receptor
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q32.1
Gene start: 129188872
Gene end: 129213545
  
Corresponding Affymetrix probe sets: 218629_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000249373
Ensembl peptide - ENSP00000418720
Ensembl peptide - ENSP00000420749
NCBI entrez gene - 6608     See in Manteia.
OMIM - 601500
RefSeq - XM_011516522
RefSeq - NM_005631
RefSeq Peptide - NP_005622
swissprot - H7C509
swissprot - Q99835
swissprot - H7C5S9
Ensembl - ENSG00000128602
  
Related genetic diseases (OMIM): 601707 - Curry-Jones syndrome, somatic mosaic, 601707
  605462 - Basal cell carcinoma, somatic, 605462
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smoENSDARG00000002952Danio rerio
 SMOENSGALG00000036114Gallus gallus
 SmoENSMUSG00000001761Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FZD6 / O60353 / frizzled class receptor 6ENSG0000016493020
FZD5 / Q13467 / frizzled class receptor 5ENSG0000016325119
FZD3 / Q9NPG1 / frizzled class receptor 3ENSG0000010429019
FZD1 / Q9UP38 / frizzled class receptor 1ENSG0000015724019
FZD8 / Q9H461 / frizzled class receptor 8ENSG0000017728319
FZD7 / O75084 / frizzled class receptor 7ENSG0000015576018
FZD2 / Q14332 / frizzled class receptor 2ENSG0000018034018
FZD9 / O00144 / frizzled class receptor 9ENSG0000018876317
FZD10 / Q9ULW2 / frizzled class receptor 10ENSG0000011143217
FZD4 / Q9ULV1 / frizzled class receptor 4ENSG0000017480416
SFRP4 / Q6FHJ7 / secreted frizzled related protein 4ENSG000001064839
SFRP1 / Q8N474 / secreted frizzled related protein 1ENSG000001043328
FRZB / Q92765 / frizzled related proteinENSG000001629987
SFRP5 / Q5T4F7 / secreted frizzled related protein 5ENSG000001200577
SFRP2 / Q96HF1 / secreted frizzled related protein 2ENSG000001454236


Protein motifs (from Interpro)
Interpro ID Name
 IPR000539  Frizzled/Smoothened, transmembrane domain
 IPR015526  Frizzled/secreted frizzled-related protein
 IPR017981  GPCR, family 2-like
 IPR020067  Frizzled domain
 IPR026544  Smoothened
 IPR035683  Smoothened, transmembrane domain
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001570 vasculogenesis IEA
 biological_processGO:0001649 osteoblast differentiation IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001708 cell fate specification IEA
 biological_processGO:0001755 neural crest cell migration IEA
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0002052 positive regulation of neuroblast proliferation IEA
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IEA
 biological_processGO:0003007 heart morphogenesis IEA
 biological_processGO:0003140 determination of left/right asymmetry in lateral mesoderm IEA
 biological_processGO:0003323 type B pancreatic cell development IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0007228 positive regulation of hh target transcription factor activity IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IEA
 biological_processGO:0007371 ventral midline determination IEA
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0007417 central nervous system development IEA
 biological_processGO:0007494 midgut development IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0009953 dorsal/ventral pattern formation IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0021542 dentate gyrus development IEA
 biological_processGO:0021696 cerebellar cortex morphogenesis IEA
 biological_processGO:0021794 thalamus development IEA
 biological_processGO:0021904 dorsal/ventral neural tube patterning IEA
 biological_processGO:0021910 smoothened signaling pathway involved in ventral spinal cord patterning IEA
 biological_processGO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation IEA
 biological_processGO:0021953 central nervous system neuron differentiation IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0030857 negative regulation of epithelial cell differentiation IEA
 biological_processGO:0031069 hair follicle morphogenesis IEA
 biological_processGO:0034504 protein localization to nucleus IEA
 biological_processGO:0035264 multicellular organism growth IEA
 biological_processGO:0040018 positive regulation of multicellular organism growth IEA
 biological_processGO:0042307 positive regulation of protein import into nucleus IEA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043392 negative regulation of DNA binding IEA
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046622 positive regulation of organ growth IEA
 biological_processGO:0048143 astrocyte activation IEA
 biological_processGO:0048468 cell development IEA
 biological_processGO:0048565 digestive tract development IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048589 developmental growth IEA
 biological_processGO:0048741 skeletal muscle fiber development IEA
 biological_processGO:0048853 forebrain morphogenesis IEA
 biological_processGO:0048873 homeostasis of number of cells within a tissue IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0050821 protein stabilization IEA
 biological_processGO:0051451 myoblast migration IEA
 biological_processGO:0051799 negative regulation of hair follicle development IEA
 biological_processGO:0060248 detection of cell density by contact stimulus involved in contact inhibition IMP
 biological_processGO:0060413 atrial septum morphogenesis IEA
 biological_processGO:0060644 mammary gland epithelial cell differentiation IEA
 biological_processGO:0060684 epithelial-mesenchymal cell signaling IEA
 biological_processGO:0061053 somite development IEA
 biological_processGO:0061113 pancreas morphogenesis IEA
 biological_processGO:0070986 left/right axis specification IEA
 biological_processGO:0071397 cellular response to cholesterol IEA
 biological_processGO:0072001 renal system development IEP
 biological_processGO:0072285 mesenchymal to epithelial transition involved in metanephric renal vesicle formation IEA
 biological_processGO:0090190 positive regulation of branching involved in ureteric bud morphogenesis IEA
 biological_processGO:2000036 regulation of stem cell population maintenance IEA
 biological_processGO:2000826 regulation of heart morphogenesis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005901 caveola IDA
 cellular_componentGO:0005929 cilium TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0060170 ciliary membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097542 ciliary tip TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IBA
 molecular_functionGO:0005113 patched binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0017147 Wnt-protein binding IBA


Pathways (from Reactome)
Pathway description
Class B/2 (Secretin family receptors)
Hedgehog off state
BBSome-mediated cargo-targeting to cilium
Hedgehog on state
Activation of SMO


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000316 Hypertelorism 
Show

 HP:0000324 Facial asymmetry 
Show

 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
Show

 HP:0000581 Blepharophimosis "Reduced width of the palpebral fissures." [HPO:sdoelken]
Show

 HP:0000588 Optic nerve coloboma 
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 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
Show

 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
Show

 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
Show

 HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
Show

 HP:0001053 Hypopigmented skin patches 
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 HP:0001159 Syndactyly "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0001177 Preaxial polydactyly (hands) "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators]
Show

 HP:0001249 Mental retardation 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
Show

 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
Show

 HP:0001442 Somatic mosaicism 
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0001829 Polydactyly (feet) 
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 HP:0002025 Anal stenosis "Abnormal narrowing of the anal opening." [HPO:curators]
Show

 HP:0002119 Ventriculomegaly 
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
Show

 HP:0002566 Intestinal malrotation "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators]
Show

 HP:0002671 Basal cell carcinoma 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0007099 Arnold-Chiari type I malformation "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators]
Show

 HP:0007206 Hemimegalencephaly 
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 HP:0008065 Aplasia/Hypoplasia of the skin 
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 HP:0009942 Partial/complete duplication of phalanges of the thumb "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken]
Show

 HP:0010554 Cutaneous syndactyly of the fingers "Webbing or fusion of the fingers involving soft parts only." [HPO:curators]
Show

 HP:0010621 Cutaneous syndactyly of the toes "Webbing or fusion of the toes involving soft parts only." [HPO:curators]
Show

 HP:0011304 Broad thumb "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433]
Show

 HP:0012450 Chronic constipation "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000141480 ARRB2 / P32121 / arrestin beta 2  / reaction / complex
 ENSG00000131437 KIF3A / Q9Y496 / kinesin family member 3A  / complex / reaction
 ENSG00000173020 GRK2 / P25098 / G protein-coupled receptor kinase 2  / complex / reaction
 ENSG00000185920 PTCH1 / Q13635 / patched 1  / reaction / complex
 ENSG00000137486 ARRB1 / P49407 / arrestin beta 1  / reaction / complex
 ENSG00000113712 P48729 / CSNK1A1 / casein kinase 1 alpha 1  / complex / reaction
 ENSG00000128602 SMO / Q99835 / smoothened, frizzled class receptor  / complex
 ENSG00000072840 EVC / P57679 / EvC ciliary complex subunit 1  / complex / reaction
 ENSG00000173040 EVC2 / Q86UK5 / EvC ciliary complex subunit 2  / reaction / complex






 

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