SMAD6 Gene Summary [Human]
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
Details
| Type | Protein Coding |
| Official Symbol | SMAD6 |
| Official Name | SMAD family member 6 [Source:HGNC Symbol;Acc:HGNC:6772] |
| Ensembl ID | ENSG00000137834 |
| Bio databases IDs | |
| Aliases | SMAD family member 6 |
| Synonyms | AOVD2, b2b390Clo, HsT17432, MADH6, MADH7, SMAD family member 6 |
| 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 SMAD6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- SMAD binding
- transcription regulator
- MH2 domain
- mad homology domain 1
- nucleic acid binding
- chromatin binding
- linker domain
- protein binding
- receptor binding
- sequence-specific DNA binding
- identical protein binding
- N-terminal Mad Homology 1 (MH1) domain
- double-stranded DNA binding
- transforming growth factor-beta receptor binding
- MH1 domain
- C-terminal Mad Homology 2 (MH2) domain
Pathways
Biological processes and signaling networks where the SMAD6 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- susceptibility to nonsyndromic radioulnar synostosis
- hereditary disorder
- aortic valve disease type 2
- congenital radioulnar synostosis
- susceptibility to craniosynostosis 7
- aortic valve disease type 1
- non-insulin-dependent diabetes mellitus
- androgenic alopecia
- organismal death
role in cell
- activation in
- expression in
- proliferation
- apoptosis
- signaling in
- growth
- phosphorylation in
- maturation
- differentiation
- survival
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
- nuclear fraction
- Cytoplasm
- cilia
- basal bodies
- Golgi Apparatus
- cytosol
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMAD6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to estrogen stimulus
- zygotic specification of dorsal/ventral axis
- negative regulation of cell proliferation
- transforming growth factor beta receptor signaling pathway
- anatomical structure morphogenesis
- fat cell differentiation
- negative regulation of osteoblast differentiation
- outflow tract septum morphogenesis
- immune response
- negative regulation of activin receptor signaling pathway
- BMP signaling pathway
- negative regulation of SMAD protein import into nucleus
- aortic valve morphogenesis
- ventricular septum development
- mitral valve morphogenesis
- SMAD protein signal transduction
- pulmonary valve morphogenesis
- coronary vasculature development
- regulation of transcription from RNA polymerase II promoter
- negative regulation of BMP signaling pathway
- response to laminar fluid shear stress
- ureteric bud development
- aorta development
- negative regulation of apoptotic process
- cell differentiation
- response to lipopolysaccharide
- cell-substrate adhesion
- negative regulation of ossification
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytoplasm
- SMAD2-SMAD3 protein complex
- cytosol
- macromolecular complex
- Golgi apparatus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- ubiquitin protein ligase binding
- metal ion binding
- type I activin receptor binding
- R-SMAD binding
- transcription regulatory region sequence-specific DNA binding
- co-SMAD binding
- chromatin binding
- I-SMAD binding
- type I transforming growth factor beta receptor binding