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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
  • Alliance
    gene page
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
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 34.22 cM, cytoband D
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SMAD3, SMAD family member 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMAD3, SMAD family member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
  • Links
    NCBI Gene ID: 4088
    neXtProt AC: NX_P84022
    UniProt: P84022

  • Chr Location
    15q22.33; chr15:67065698-67195195 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Smad3 mouse models; 1 with human SMAD3 associations

Human Disease Mouse 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
    3 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
    189 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.
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
    175
  • GO References
    45
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
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
    296
  • Tissues
    147
  • cDNA Data
    115
  • Literature Summary
    126
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      514 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 131
      Genomic 4
      cDNA 117
      Primer pair 9
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2143216
    References
    more
    • Summaries
      All 472
      Developmental Gene Expression 126
      Diseases 3
      Gene Ontology 45
      Phenotypes 189
    • Earliest
      J:159277 Zhang Y, et al., Receptor-associated Mad homologues synergize as effectors of the TGF-beta response. Nature. 1996 Sep 12;383(6596):168-72
    • Latest
      J:264370 Sima J, et al., Eda-activated RelB recruits an SWI/SNF (BAF) chromatin-remodeling complex and initiates gene transcription in skin appendage formation. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):8173-8178
    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