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Smad3 Gene Detail
Summary
  • Symbol
    Smad3
  • Name
    SMAD family member 3
  • Synonyms
    Madh3, Smad 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1201674
    NCBI Gene: 17127
Location & Maps
more
  • Sequence Map
    Chr9:63646767-63757994 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      111228 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMAD3, SMAD family member 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMAD3, SMAD family member 3
    Orthology source: HomoloGene
  • Synonyms
    HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
  • Links
    NCBI Gene ID: 4088
    neXtProt AC: NX_P84022

  • Chr Location
    15q22.33; chr15:67065627-67195195 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Smad3 mouse models; 1 with human SMAD3 associations

Human Disease Mouse Models
       Osteoarthritis Susceptibility 1; OS1   OMIM: 165720 View 1 model
       Loeys-Dietz Syndrome 3; LDS3   OMIM: 613795
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    82 phenotypes from 5 alleles in 9 genetic backgrounds
    60 phenotypes from multigenic genotypes
    4 images
    172 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    3
  • Targeted
    7
  • Genomic Mutations
    1 involving Smad3
  • Incidental Mutations
    APF , CvDC
Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021500 VEGA Gene Model | MGI Sequence Detail 111228 C57BL/6J ±  kb
transcript OTTMUST00000050960 VEGA | MGI Sequence Detail 5090 Not Applicable  
polypeptide OTTMUSP00000023917 VEGA | MGI Sequence Detail 425 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    517 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 130
    Genomic 4
    cDNA 116
    Primer pair 9
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:2143216
References
more
  • Summaries
    All 364
    Developmental Gene Expression 94
    Diseases 2
    Gene Ontology 43
    Phenotypes 172
  • Earliest
    J:46375 Zhao J, et al., Abrogation of Smad3 and Smad2 or of Smad4 gene expression positively regulates murine embryonic lung branching morphogenesis in culture. Dev Biol. 1998 Feb 15;194(2):182-95
  • Latest
    J:226721 Mori H, et al., Smad3 Deficiency Leads to Mandibular Condyle Degradation via the Sphingosine 1-Phosphate (S1P)/S1P3 Signaling Axis. Am J Pathol. 2015 Oct;185(10):2742-56

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory