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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:29735503-29761365 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 12.36 cM, cytoband A3.3
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    75 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108075
 protein coding gene Chr6:29735497-29761366 (.)
129S1/SvImJ MGP_129S1SvImJ_G0030530
 protein coding gene Chr6:27561325-27587626 (+)
A/J MGP_AJ_G0030503
 protein coding gene Chr6:26388847-26418750 (+)
AKR/J MGP_AKRJ_G0030430
 protein coding gene Chr6:27252707-27287872 (+)
BALB/cJ MGP_BALBcJ_G0030513
 protein coding gene Chr6:26551100-26577319 (+)
C3H/HeJ MGP_C3HHeJ_G0030226
 protein coding gene Chr6:27268523-27297526 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030967
 protein coding gene Chr6:28338965-28370474 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028178
 protein coding gene Chr6:24593186-24617494 (+)
CAST/EiJ MGP_CASTEiJ_G0029628
 protein coding gene Chr6:27065368-27093385 (+)
CBA/J MGP_CBAJ_G0030204
 protein coding gene Chr6:29420121-29463156 (+)
DBA/2J MGP_DBA2J_G0030348
 protein coding gene Chr6:26329227-26354263 (+)
FVB/NJ MGP_FVBNJ_G0030302
 protein coding gene Chr6:26086867-26110785 (+)
LP/J MGP_LPJ_G0030435
 protein coding gene Chr6:27689379-27720138 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030338
 protein coding gene Chr6:31907859-31939053 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030997
 protein coding gene Chr6:27134156-27164129 (+)
PWK/PhJ MGP_PWKPhJ_G0029342
 protein coding gene Chr6:25875714-25902364 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029178
 protein coding gene Chr6:26866936-26893065 (+)
WSB/EiJ MGP_WSBEiJ_G0029704
 protein coding gene Chr6:27105030-27134202 (+)



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
    UniProt: Q99835

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

Human Disease Mouse Models
      
IDs
 View 8 models
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    172 phenotypes from 11 alleles in 31 genetic backgrounds
    53 phenotypes from multigenic genotypes
    2 images
    299 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
    140
  • GO References
    52
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 population 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
less
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
    92
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001761 Ensembl Gene Model | MGI Sequence Detail 25863 C57BL/6J ±  kb
    transcript ENSMUST00000001812 Ensembl | MGI Sequence Detail 3779 Not Applicable  
    polypeptide ENSMUSP00000001812 Ensembl | MGI Sequence Detail 793 Not Applicable  
    For the selected sequence
    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 449
      Developmental Gene Expression 92
      Diseases 5
      Gene Ontology 52
      Phenotypes 299
    • 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:267472 Steimle JD, et al., Evolutionarily conserved Tbx5-Wnt2/2b pathway orchestrates cardiopulmonary development. Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):E10615-E10624
    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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    01/08/2019
    MGI 6.13     		The Jackson Laboratory