Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SMAD9 contributors: mct/npt - updated : 31-08-2016
HGNC name SMAD family member 9
HGNC id 6774
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • Dwarfin (DWA/MH1) DNA binding domain including a nuclear localization-like signal (NLS-L)
  • a double loop region
  • a linker region and a DWB/MH2 heterodimerization and transactivation domain
    • conjugated PhosphoP
    mono polymer complex
    HOMOLOGY
    interspecies homolog to Drosophila Mad (mother against dpp) gene JV15-2
    homolog to murine Madh9
    homolog to rattus Madh9
    intraspecies homolog to MADH3
    Homologene
    FAMILY
  • dwarfin/SMAD family
    • CATEGORY regulatory , transcription factor , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • CO-Smad Smad4 nuclear translocation
  • translocated into the nucleus (Nishita 1999)
    • basic FUNCTION
  • intracellular mediator of TGFB family of cytokines
  • transcriptional modulator
  • receptor-regulator Smad
  • signal transducer for the members of the transforming growth factor-beta (TGF-beta) superfamily (Miyazono 2000)
  • is highly capable of promoting osteogenic differentiation of MSCs
  • is potentially a new type of transcriptional regulator in BMP signaling
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    TGFB, BMP
    a component complexing with MADH3 for nuclear translocation
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MADH4, RUNX1 (PEBP2A) and MADH7
  • binds to SMAD1, SMAD5 and SMAD9, and represses bone morphogenetic protein (BMP) signaling responses
  • CREBZF inhibits the function of BMP6 by interacting with SMAD1, SMAD5, SMAD9
  • SMAD9 expression was increased by the activation of BMP signaling, similar to that of inhibitory SMADS (I-Smads), and SMAD9 reduced BMP activity
    • cell & other
    REGULATION
    activated by phosphorylation on serine by bone morphogenetic proteins (BMP) type I receptor kinase
    BMPR1A (serotonin transactivates BMPR1A, to activate SMAD 1/5/8 via Rho and Rho kinase in pulmonary artery smooth muscle cells; Rho and Rho kinase also participate in the activation of Smads by BMP) (Liu 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to pulmonary arterial hypertension
  • to hamartomatous polyposis in the colon
    • Variant & Polymorphism other
  • c.606 C>A, p.C202X associated with pulmonary arterial hypertension
  • germline heterozygous mutation in SMAD9 (SMAD9(V90M)) associated with hamartomatous polyposis in the colon
    • Candidate gene DNA methylation markers of Gastric cancer (GC), which may serve as useful markers that may identify a distinct subset of GC (Kang 2008)
    Marker
    Therapy target
    ANIMAL & CELL MODELS