About   Help   FAQ
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
  • 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
    18
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 MGP_129S1SvImJ_G0034932
 protein coding gene Chr9:63258061-63370076 (-)
A/J MGP_AJ_G0034912
 protein coding gene Chr9:61154391-61265338 (-)
AKR/J MGP_AKRJ_G0034842
 protein coding gene Chr9:62574622-62688282 (-)
BALB/cJ MGP_BALBcJ_G0034905
 protein coding gene Chr9:60881623-60992932 (-)
C3H/HeJ MGP_C3HHeJ_G0034615
 protein coding gene Chr9:63094511-63208380 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035424
 protein coding gene Chr9:64976951-65091751 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032335
 protein coding gene Chr9:60815017-60925455 (-)
CAST/EiJ MGP_CASTEiJ_G0033936
 protein coding gene Chr9:63247288-63362410 (-)
CBA/J MGP_CBAJ_G0034586
 protein coding gene Chr9:67222451-67343720 (-)
DBA/2J MGP_DBA2J_G0034745
 protein coding gene Chr9:60940190-61051598 (-)
FVB/NJ MGP_FVBNJ_G0034687
 protein coding gene Chr9:60240388-60352183 (-)
LP/J MGP_LPJ_G0034828
 protein coding gene Chr9:63547320-63661120 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034730
 protein coding gene Chr9:68546665-68665643 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035446
 protein coding gene Chr9:62673276-62790985 (-)
PWK/PhJ MGP_PWKPhJ_G0033640
 protein coding gene Chr9:61085474-61200977 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033474
 protein coding gene Chr9:62940961-63057940 (-)
WSB/EiJ MGP_WSBEiJ_G0034049
 protein coding gene Chr9:62570312-62686746 (-)



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
    neXtProt AC: NX_P84022
    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
    92 phenotypes from 6 alleles in 10 genetic backgrounds
    62 phenotypes from multigenic genotypes
    4 images
    252 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
    262
  • GO References
    53
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
non-membrane-bounded 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
    1081
  • Tissues
    180
  • cDNA Data
    115
  • Literature Summary
    170
  • 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 133
      Genomic 4
      cDNA 117
      Primer pair 11
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2143216
    References
    more
    • Summaries
      All 609
      Developmental Gene Expression 170
      Diseases 3
      Gene Ontology 53
      Phenotypes 252
    • 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:353918 Lim YJ, et al., MicroRNA-19b exacerbates systemic sclerosis through promoting Th9 cells. Cell Rep. 2024 Aug 27;43(8):114565
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory