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, SMAD8, SMAD8A, SMAD8B
Human Chr (Location)		13q12-q14; chr13:37418968-37494409 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SMAD9

Alleles and phenotypes

All alleles(11) : Targeted(11)
 

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: (196 records)
Data Summary: Results (141)    Tissues (129)    Images (10)
Theiler Stages: 9, 11, 14, 15, 17, 20, 22, 23, 26, 28

Assay Type	Results
RNA in situ	126
Western blot	4
RT-PCR	11

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(15) cDNA(12) Primer pair(3)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000021206 (Evidence)
Ensembl Gene Model	ENSMUSG00000027796 (Evidence)
Entrez Gene	55994 (Evidence)
UniGene	244353
DFCI	TC1591106, TC1668013, TC1694064
DoTS	DT.101241829, DT.60102614
NIA Mouse Gene Index	U003241
Consensus CDS Project	CCDS17354.1
International Mouse Knockout Project Status	Smad9

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021206	VEGA Gene Model | MGI Sequence Detail	45676	C57BL/6J
transcript	OTTMUST00000050237	VEGA | MGI Sequence Detail	5368	Not Applicable
polypeptide	OTTMUSP00000023428	VEGA | MGI Sequence Detail	430	Not Applicable

All sequences(25) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(211 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194058 Sun J, et al., Foxc1 controls the growth of the murine frontal bone rudiment by direct regulation of a Bmp response threshold of Msx2. Development. 2013 Mar;140(5):1034-44
All references(234)