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Smad9 Gene Detail
Summary
  • Symbol
    Smad9
  • Name
    SMAD family member 9
  • Synonyms
    MADH6, Madh9, SMAD8A, SMAD8B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859993
    NCBI Gene: 55994
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:54755582-54801257 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45676 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 25.62 cM, cytoband D
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SMAD9, SMAD family member 9
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMAD9, SMAD family member 9
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MADH6, MADH9, PPH2, SMAD8, SMAD8/9, SMAD8A, SMAD8B
  • Links
    NCBI Gene ID: 4093
    neXtProt AC: NX_O15198
    UniProt: O15198

  • Chr Location
    13q13.3; chr13:36844831-36920721 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Smad9 mouse models; 1 with human SMAD9 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 7 alleles in 4 genetic backgrounds
    23 phenotypes from multigenic genotypes
    17 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.
Homozygous mutant mice in which exon 3 was deleted are viable and fertile. Mutant mice in which a neo cassette is inserted in exon 3 resulting in a hypomorphic allele exhibit reduced midbrain and hindbrain.
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
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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021206 VEGA Gene Model | MGI Sequence Detail 45676 C57BL/6J ±  kb
    transcript OTTMUST00000050237 VEGA | MGI Sequence Detail 5368 Not Applicable  
    polypeptide OTTMUSP00000023428 VEGA | MGI Sequence Detail 430 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      348 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 16
      Primer pair 6

      Microarray probesets 3
    References
    more
    • Summaries
      All 359
      Developmental Gene Expression 306
      Diseases 2
      Gene Ontology 13
      Phenotypes 17
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:263185 Huang M, et al., Multiple roles of epithelial heparan sulfate in stomach morphogenesis. J Cell Sci. 2018 May 29;131(10)

    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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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory