SMAD9 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SMAD9 |
| Official Name | SMAD family member 9 [Source:HGNC Symbol;Acc:HGNC:6774] |
| Ensembl ID | ENSG00000120693 |
| Bio databases IDs | |
| Aliases | SMAD family member 9 |
| Synonyms | LOC103691556, MADH6, Madh8, MADH9, PPH2, SMAD8, SMAD8/9, SMAD8A, SMAD8B, SMAD family member 9 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SMAD9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- MH2 domain
- nucleic acid binding
- double-stranded DNA binding
- MH1 domain
- C-terminal Mad Homology 2 (MH2) domain
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- N-terminal Mad Homology 1 (MH1) domain
Pathways
Biological processes and signaling networks where the SMAD9 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- BMP signaling pathway
- Cardiomyocyte Differentiation via BMP Receptors
- Factors Promoting Cardiogenesis in Vertebrates
- Human Embryonic Stem Cell Pluripotency
- Molecular Mechanisms of Cancer
- Mouse Embryonic Stem Cell Pluripotency
- Osteoarthritis Pathway
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
- TGF-β Signaling
- Transcriptional Regulatory Network in Embryonic Stem Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pulmonary hypertensive arterial disease
- epithelial cancer
- prostatic carcinoma
- prostate cancer
- colorectal cancer
- myocardial infarction
- BCR-ABL negative atypical chronic myeloid leukemia
- spontaneous preterm birth
- coronary artery disease
- primary pulmonary hypertension 2
role in cell
- expression in
- differentiation
- abnormal morphology
- maturation
- osteogenic differentiation
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- zona pellucida
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMAD9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to BMP stimulus
- BMP signaling pathway
- SMAD protein signal transduction
- transforming growth factor beta receptor signaling pathway
- cell differentiation
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- SMAD protein complex
- nucleus
- cytoplasm
- SMAD2-SMAD3 protein complex
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- I-SMAD binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity