SMAD6
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SMAD family member 6 | MIM:602931 | Ensembl:ENSG00000137834 | HGNC:HGNC:6772 | PA30529 | 15q22.31 |
Gene Categories:
TRANSCRIPTION FACTOR COMPLEXGO terms in SMAD6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0030617 | transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity |
| MF | IMP | GO:0030617 | transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IDA | GO:0034713 | type I transforming growth factor beta receptor binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0070410 | co-SMAD binding |
| MF | IPI | GO:0070411 | I-SMAD binding |
| MF | IPI | GO:0070412 | R-SMAD binding |
| MF | IDA | GO:0070698 | type I activin receptor binding |
| CC | IDA | GO:0005634 | nucleus |
| CC | IEA | GO:0005667 | transcription factor complex |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0016604 | nuclear body |
| CC | IDA | GO:0032991 | protein-containing complex |
| BP | IEA | GO:0001657 | ureteric bud development |
| BP | ISS | GO:0003148 | outflow tract septum morphogenesis |
| BP | IMP | GO:0003180 | aortic valve morphogenesis |
| BP | ISS | GO:0003183 | mitral valve morphogenesis |
| BP | ISS | GO:0003184 | pulmonary valve morphogenesis |
| BP | IEA | GO:0003281 | ventricular septum development |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IMP | GO:0006955 | immune response |
| BP | IEA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IMP | GO:0007352 | zygotic specification of dorsal/ventral axis |
| BP | IMP | GO:0008285 | negative regulation of cell proliferation |
| BP | IDA | GO:0010991 | negative regulation of SMAD protein complex assembly |
| BP | ISS | GO:0030279 | negative regulation of ossification |
| BP | IDA | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IMP | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway |
| BP | IDA | GO:0030514 | negative regulation of BMP signaling pathway |
| BP | IMP | GO:0030514 | negative regulation of BMP signaling pathway |
| BP | IMP | GO:0031589 | cell-substrate adhesion |
| BP | IEP | GO:0034616 | response to laminar fluid shear stress |
| BP | IEA | GO:0035904 | aorta development |
| BP | IMP | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043627 | response to estrogen |
| BP | IDA | GO:0045444 | fat cell differentiation |
| BP | IMP | GO:0045668 | negative regulation of osteoblast differentiation |
| BP | IDA | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IMP | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation |
| BP | IEA | GO:0060976 | coronary vasculature development |
| BP | IEA | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II |
Gene expression in normal tissue: SMAD6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMAD6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | alkpathway | alk in cardiac myocytes |
| biocarta | ctcfpathway | ctcf: first multivalent nuclear factor |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| wikipathways | WP1425 | Bone Morphogenic Protein (BMP) Signalling and Regulation |
| wikipathways | WP1449 | Regulation of toll-like receptor signaling pathway |
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| pid | bmppathway | BMP receptor signaling |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| humancyc | PWY66-11 | BMP Signalling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMAD6
CLASSFICATION
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