Mothers against decapentaplegic homolog 9

SMAD9
Identifiers
Aliases	SMAD9, MADH6, MADH9, PPH2, SMAD8, SMAD8A, SMAD8B, SMAD8/9, SMAD family member 9
External IDs	OMIM: 603295 MGI: 1859993 HomoloGene: 21198 GeneCards: SMAD9
Gene location (Human) Chr. Chromosome 13 (human)[1] Band No data available Start 36,844,831 bp[1] End 36,920,765 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band No data available Start 54,755,582 bp[2] End 54,801,257 bp[2]
Gene ontology Molecular function • DNA binding • transcription factor activity, sequence-specific DNA binding • transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity • metal ion binding • protein binding Cellular component • SMAD protein complex • transcription factor complex • intracellular • nucleoplasm • nucleus • cytoplasm • cytosol Biological process • ureteric bud development • regulation of transcription, DNA-templated • SMAD protein signal transduction • cellular response to organic cyclic compound • hindbrain development • cellular response to BMP stimulus • BMP signaling pathway • transcription, DNA-templated • protein phosphorylation • cartilage development • bone development • transforming growth factor beta receptor signaling pathway • midbrain development • positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4093	55994
Ensembl	ENSG00000120693	ENSMUSG00000027796
UniProt	O15198	Q9JIW5
RefSeq (mRNA)	NM_001127217 NM_005905	NM_019483
RefSeq (protein)	NP_001120689 NP_005896	NP_062356
Location (UCSC)	Chr 13: 36.84 – 36.92 Mb	Chr 13: 54.76 – 54.8 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Mothers against decapentaplegic homolog 9 also known as SMAD9, SMAD8, and MADH6 is a protein that in humans is enocoded by the SMAD9 gene.^[5]

SMAD9, as its name describes, is a homolog of the Drosophila gene: "Mothers against decapentaplegic". It belongs to the SMAD family of proteins, which belong to the TGFβ superfamily of modulators. Like many other TGFβ family members, SMAD9 is involved in cell signalling. When a bone morphogenetic protein binds to a receptor (BMP type 1 receptor kinase) it causes SMAD9 to interact with SMAD anchor for receptor activation (SARA).The binding of ligands causes the phosphorylation of the SMAD9 protein and the dissociation from SARA and the association with SMAD4. It is subsequently transferred to the nucleus where it forms complexes with other proteins and acts as a transcription factor. SMAD9 is a receptor regulated SMAD (R-SMAD) and is activated by bone morphogenetic protein type 1 receptor kinase. There are two isoforms of the protein. Confusingly, it is also sometimes referred to as SMAD8 in the literature.

Nomenclature

The SMAD proteins are homologs of both the drosophila protein, mothers against decapentaplegic (MAD) and the C. elegans protein SMA. The name is a combination of the two. During Drosophila research, it was found that a mutation in the gene, MAD, in the mother, repressed the gene, decapentaplegic, in the embryo. The phrase "Mothers against" was added since mothers often form organizations opposing various issues e.g. Mothers Against Drunk Driving or (MADD); and based on a tradition of such unusual naming within the gene research community.^[6]

References