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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
  • Alliance
    gene page
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: HGNC, HomoloGene
  • Synonyms
    CRJS, FZD11, Gx, SMOH
  • Links
    NCBI Gene ID: 6608
    neXtProt AC: NX_Q99835
    UniProt: Q99835

  • Chr Location
    7q32.1; chr7:129188872-129213548 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Smo mouse models; 1 with human SMO associations

Human Disease Mouse Models
      
IDs
 View 8 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    169 phenotypes from 11 alleles in 30 genetic backgrounds
    53 phenotypes from multigenic genotypes
    2 images
    283 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
    130
  • GO References
    51
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    273
  • Tissues
    164
  • cDNA Data
    119
  • Literature Summary
    91
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 132
      Genomic 1
      cDNA 122
      Primer pair 7
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37112, MGI:1276113, MGI:2442674
    References
    more
    • Summaries
      All 432
      Developmental Gene Expression 91
      Diseases 4
      Gene Ontology 51
      Phenotypes 283
    • 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:264185 Wang C, et al., Expansion of hedgehog disrupts mesenchymal identity and induces emphysema phenotype. J Clin Invest. 2018 Jul 12;
    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
    09/11/2018
    MGI 6.12     		The Jackson Laboratory