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Smo Gene Detail
Summary
  • Symbol
    Smo
  • Name
    smoothened, frizzled class receptor
  • Synonyms
    E130215L21Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:108075
    NCBI Gene: 319757
  • Gene Overview
    MyGene.info: SMO
Location & Maps
more
  • Sequence Map
    Chr6:29735503-29761365 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      25863 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 12.36 cM, cytoband A3.3
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    SMO, smoothened, frizzled class receptor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMO, smoothened, frizzled class receptor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CRJS, FZD11, Gx, SMOH
  • Links
    NCBI Gene ID: 6608
    neXtProt AC: NX_Q99835

  • Chr Location
    7q32.3; chr7:129188872-129213546 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Smo mouse models; 2 with human SMO associations

Human Disease Mouse Models
       Medulloblastoma; MDB   OMIM: 155255 View 8 models
       Basal Cell Carcinoma, Susceptibility to, 1; BCC1   OMIM: 605462
Curry-Jones Syndrome; CRJS   OMIM: 601707
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    160 phenotypes from 11 alleles in 29 genetic backgrounds
    51 phenotypes from multigenic genotypes
    2 images
    225 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    2
  • Targeted
    9
  • Transgenic
    3
  • Incidental Mutations
    Mutagenetix , APF
Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    118
  • GO References
    49
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    172
  • Tissues
    117
  • cDNA Data
    116
  • Literature Summary
    80
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000013446 VEGA Gene Model | MGI Sequence Detail 25863 C57BL/6J ±  kb
transcript OTTMUST00000032499 VEGA | MGI Sequence Detail 3779 Not Applicable  
polypeptide OTTMUSP00000014435 VEGA | MGI Sequence Detail 793 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    75 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 127
    Genomic 1
    cDNA 119
    Primer pair 5
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-37112, MGI:1276113, MGI:2442674
References
more
  • Summaries
    All 273
    Developmental Gene Expression 80
    Diseases 12
    Gene Ontology 49
    Phenotypes 225
  • Earliest
    J:36573 Stone DM, et al., The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog [see comments]. Nature. 1996 Nov 14;384(6605):129-34
  • Latest
    J:234703 Rockel JS, et al., Hedgehog inhibits beta-catenin activity in synovial joint development and osteoarthritis. J Clin Invest. 2016 May 2;126(5):1649-63
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory