SMAD9

SMAD family members, such as SMAD9, transduce signals from members of the TGF-beta (see TGFB1; MIM 190180) superfamily, which regulate growth, differentiation, apoptosis, and development (Nishita et al., 1999 [PubMed 10583507]).[supplied by OMIM

Full Name

SMAD9

Function

Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).

Biological Process

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process BMP signaling pathwayISS:BHF-UCL
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular response to BMP stimulus1 PublicationNAS:BHF-UCL
Biological Process positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process SMAD protein signal transductionISS:BHF-UCL
Biological Process transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cytoplasm
Nucleus
In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity).

Involvement in disease

Pulmonary hypertension, primary, 2 (PPH2):
A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

PTM

Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.