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Smad9
Gene Detail
 Symbol
Name
ID
Smad9
SMAD family member 9
MGI:1859993
Synonyms MADH6, Madh9, SMAD8A, SMAD8B
Feature Type protein coding gene
Genetic Map
Chromosome 3
25.62 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr3:54755582-54801257 bp, + strand
From VEGA annotation of GRCm38

  45676 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21198  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Smad protein
Gene Tree: Smad9

Human
homologs
Human Homolog SMAD9, SMAD family member 9
NCBI Gene ID 4093
neXtProt AC  NX_O15198
Human Synonyms  MADH6, MADH9, PPH2, SMAD8, SMAD8A, SMAD8B
Human Chr (Location)  13q12-q14; chr13:36844831-36920272 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SMAD9
Alleles
and
phenotypes
All alleles(12) : Targeted(12)
 
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.
 
Human Diseases Modeled Using Mouse Smad9 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process BMP signaling pathway, bone development, ...
Component cytoplasm, intracellular, ...
Function DNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (214 records)
Data Summary: Results (173)    Tissues (143)    Images (15)
Theiler Stages: 9, 11, 12, 14, 15, 17, 20, 22, 23, 24, 26, 28
Assay TypeResults
Immunohistochemistry 32
RNA in situ 126
Western blot 4
RT-PCR 11
cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(16) cDNA(13) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021206 (Evidence)
Ensembl Gene ModelENSMUSG00000027796 (Evidence)
Entrez Gene55994 (Evidence)
UniGene244353
DFCITC1591106, TC1668013, TC1694064
DoTSDT.101241829, DT.60102614
NIA Mouse Gene IndexU003241
Consensus CDS ProjectCCDS17354.1
International Mouse Knockout Project StatusSmad9
Sequences
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 sequences
All sequences(29) RefSeq(6) UniProt(3)
Polymorphisms SNPs within 2kb(348 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013790 Dwarfin
InterPro IPR003619 MAD homology 1, Dwarfin-type
InterPro IPR013019 MAD homology, MH1
InterPro IPR001132 SMAD domain, Dwarfin-type
InterPro IPR017855 SMAD domain-like
InterPro IPR008984 SMAD/FHA domain
Protein Ontology PR:000000375 smad9
References (Earliest) J:62189 Kawai S, et al., Mouse smad8 phosphorylation downstream of BMP receptors ALK-2, ALK-3, and ALK-6 induces its association with Smad4 and transcriptional activity. Biochem Biophys Res Commun. 2000 May 19;271(3):682-7
(Latest) J:204229 Li L, et al., Augmented BMPRIA-mediated BMP signaling in cranial neural crest lineage leads to cleft palate formation and delayed tooth differentiation. PLoS One. 2013;8(6):e66107
All references(253)

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
04/08/2014
MGI 5.17
The Jackson Laboratory