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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
    genome feature page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:63554049-63665276 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 34.22 cM, cytoband D
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2856 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1201674
 protein coding gene Chr9:63554048-63665276 (-)
129S1/SvImJ ENSMUSG00200035403
 protein coding gene Chr9:60656785-60767738 (-)
A/J ENSMUSG00195039609
 protein coding gene Chr9:60365116-60476610 (-)
AKR/J ENSMUSG00220035107
 protein coding gene Chr9:60516061-60627112 (-)
BALB/cJ ENSMUSG00180014841
 protein coding gene Chr9:60503721-60614965 (-)
C3H/HeJ ENSMUSG00175020620
 protein coding gene Chr9:60498210-60610449 (-)
C57BL/6NJ ENSMUSG00215029048
 protein coding gene Chr9:60490863-60602096 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032335
 protein coding gene Chr9:60815017-60925455 (-)
CAST/EiJ ENSTCUG00005019274
 protein coding gene Chr9:60407819-60519740 (-)
CBA/J ENSMUSG00210038884
 protein coding gene Chr9:60586558-60697755 (-)
DBA/2J ENSMUSG00185038687
 protein coding gene Chr9:60609755-60720968 (-)
FVB/NJ ENSMUSG00205032007
 protein coding gene Chr9:60935537-61047297 (-)
JF1/MsJ ENSUMUG00000047781
 protein coding gene Chr9:60666142-60778591 (-)
LP/J ENSMUSG00230033415
 protein coding gene Chr9:60856000-60966936 (-)
NOD/ShiLtJ ENSMUSG00190036709
 protein coding gene Chr9:60695142-60806259 (-)
NZO/HlLtJ ENSMUSG00225045941
 protein coding gene Chr9:60920988-61031515 (-)
PWK/PhJ ENSLUMG00010029663
 protein coding gene Chr9:60637750-60749918 (-)
SPRET/EiJ ENSMSPG00010020722
 protein coding gene Chr9:61697318-61805354 (-)
WSB/EiJ ENSIUOG00005032331
 protein coding gene Chr9:60101790-60213052 (-)



Homology
more
  • Human Ortholog
    SMAD3, SMAD family member 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMAD3, SMAD family member 3
  • Synonyms
    hMAD-3, hSMAD3, HSPC193, HsT17436, JV15-2, LDS1C, LDS3, mad3, MADH3
  • Links
    NCBI Gene ID: 4088
    UniProt: P84022

  • Chr Location
    15q22.33; chr15:67063763-67195173 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Smad3 mouse models; 3 with human SMAD3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    93 phenotypes from 6 alleles in 10 genetic backgrounds
    62 phenotypes from multigenic genotypes
    4 images
    262 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.
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
less
  • All GO Annotations
    340
  • GO References
    61
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1012
  • Tissues
    200
  • cDNA Data
    115
  • Literature Summary
    183
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032402 Ensembl Gene Model | MGI Sequence Detail 111228 C57BL/6J ±  kb
    transcript ENSMUST00000034973 Ensembl | MGI Sequence Detail 5090 Not Applicable  
    polypeptide ENSMUSP00000034973 Ensembl | MGI Sequence Detail 425 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 136
      Genomic 4
      cDNA 117
      Primer pair 14
      Other 1
      Antibodies 28

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2143216
    References
    more
    • Summaries
      All 843
      Developmental Gene Expression 183
      Diseases 3
      Gene Ontology 61
      Phenotypes 262
    • 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:391207 Furlan G, et al., Nodal/Smad2 signaling sustains developmental pausing by repressing Pparg-mediated lipid metabolism. Dev Cell. 2026 Aug 4;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory