| Entrez Gene ID | 4093 |
|---|---|
| Official Gene Symbol | SMAD9 (GeneCards) |
| Full name | SMAD family member 9 |
| Location | 13q13.3 |
| Other ids | Vega : OTTHUMG00000016740 MIM : 603295 HGNC : HGNC:6774 Ensembl : ENSG00000120693 |
| Other names | PPH2, MADH6, MADH9, SMAD8, SMAD8A, SMAD8B, SMAD8/9 |
| 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 17782 | 4093 | SMAD9 | 13 | 37504533 | 37504533 | Asymptomatic | HiSeq X Ten |
| 29868 | 4093 | SMAD9 | 13 | 37447001 | 37447001 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |