SMAD9 gene

SMAD family member 9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Primary pulmonary hypertension 2

From UniProt:

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. [MIM:615342]

Cytogenetic Location: 13q12-q14, which is the long (q) arm of chromosome 13 between positions 12 and 14

Molecular Location: base pairs 36,844,831 to 36,920,721 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q12-q14, which is the long (q) arm of chromosome 13 between positions 12 and 14
  • MADH6
  • MADH9
  • PPH2
  • SMAD8
  • SMAD8/9
  • SMAD8A
  • SMAD8B