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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: SMAD9
Protein SuperFamily: Smad protein
Gene Tree: Smad9

Human
homologs
SMAD9, SMAD family member 9
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4093
neXtProt AC: NX_O15198

Human Synonyms: MADH6, MADH9, PPH2, SMAD8, SMAD8A, SMAD8B

Human Chr (Location): 13q12-q14; chr13:36815914-36920721 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SMAD9

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Targeted(12)
Incidental mutations (data from CvDC )
 
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 in Mice Using Smad9 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Smad9 interacts with 346 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process BMP signaling pathway, bone development, ...
Component cytoplasm, intracellular, ...
Function DNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (242 records)
Data Summary: Results (239)    Tissues (155)    Images (27)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 46
RNA in situ 126
Western blot 29
RT-PCR 38
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA SMAD9 ; Xenbase smad9 ; ZFIN smad9    NEW 
Molecular
reagents
All nucleic(17) cDNA(13) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021206 (Evidence)
Ensembl Gene Model ENSMUSG00000027796 (Evidence)
Entrez Gene 55994 (Evidence)
UniGene 244353
DFCI TC1591106, TC1694064, TC1668013
DoTS DT.101241829, DT.60102614
NIA Mouse Gene Index U003241
Consensus CDS Project CCDS17354.1
International Mouse Phenotyping Consortium Status Smad9
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:220362 Sun Y, et al., Trps1 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression. Biochem Biophys Res Commun. 2015 Jan 16;456(3):721-6
All references(280)
Disease annotation references (1)

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
06/23/2015
MGI 5.22
The Jackson Laboratory