SMAD9
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SMAD family member 9 | MIM:603295 | Ensembl:ENSG00000120693 | HGNC:HGNC:6774 | PA30531 | 13q13.3 |
Gene Categories:
TRANSCRIPTION FACTOR COMPLEXGO terms in SMAD9
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0030618 | transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity |
| MF | IEA | GO:0046872 | metal ion binding |
| CC | TAS | GO:0005622 | intracellular |
| CC | ISS | GO:0005634 | nucleus |
| CC | TAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005667 | transcription factor complex |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | NAS | GO:0071141 | SMAD protein complex |
| BP | IEA | GO:0001657 | ureteric bud development |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | IEA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | ISS | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IEA | GO:0030901 | midbrain development |
| BP | IEA | GO:0030902 | hindbrain development |
| BP | IEA | GO:0051216 | cartilage development |
| BP | IEA | GO:0060348 | bone development |
| BP | ISS | GO:0060395 | SMAD protein signal transduction |
| BP | NAS | GO:0060395 | SMAD protein signal transduction |
| BP | IEA | GO:0071407 | cellular response to organic cyclic compound |
| BP | NAS | GO:0071773 | cellular response to BMP stimulus |
| BP | TAS | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus |
Gene expression in normal tissue: SMAD9
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMAD9
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2895 | Differentiation of white and brown adipocyte |
| wikipathways | WP3876 | BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
| wikipathways | WP560 | TGF-beta Receptor Signaling |
| humancyc | PWY66-11 | BMP Signalling Pathway |
| pid | alk1pathway | ALK1 signaling events |
| pid | alk2pathway | ALK2 signaling events |
| pid | bmppathway | BMP receptor signaling |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMAD9
CLASSFICATION
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