| GENE NAME | SMAD4 |
| CHROMOSOME | 18 |
| ENSEMBL ID | ENSG00000141646 |
| ENTREZ ID | 4089 |
| UNIPROT ACCESSION NUMBER | Q13485 |
| GO MOLECULAR FUNCTION | transcription coactivator binding; protein homodimerization activity; I-SMAD binding; filamin binding; DNA-binding transcription activator activity, RNA polymerase II-specific; collagen binding; protein binding; identical protein binding; chromatin binding; sulfate binding; RNA polymerase II-specific DNA-binding transcription factor binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; transcription cis-regulatory region binding; DNA binding; metal ion binding; R-SMAD binding; DNA-binding transcription factor activity; sequence-specific DNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04390; hsa04933; hsa05220; R-HSA-2173793; hsa05212; R-HSA-8941855; R-HSA-170834; hsa04110; hsa05161; R-HSA-452723; hsa05161; hsa04110; R-HSA-1643685; hsa05212; R-HSA-2173795; R-HSA-8952158; hsa05220; hsa04390; hsa04933; R-HSA-201451; hsa05166; R-HSA-3315487; R-HSA-5689880; R-HSA-1266738; hsa05200; R-HSA-9615017; hsa04371; hsa04371; R-HSA-5663202; R-HSA-74160; R-HSA-8878166; hsa05200; R-HSA-9006936; hsa05166; R-HSA-1502540; R-HSA-162582; R-HSA-3304347; hsa04350; hsa05226; R-HSA-73857; R-HSA-5688426; hsa04068; hsa05225; hsa04520; hsa04659; R-HSA-392499; R-HSA-9614085; hsa04659; hsa04520; hsa04068; hsa05225; R-HSA-9617828; R-HSA-3304351; R-HSA-3311021; hsa04350; hsa05226; R-HSA-1181150; hsa04310; hsa04550; R-HSA-212436; R-HSA-2173796; hsa05210; hsa05210; R-HSA-3304349; R-HSA-8941326; R-HSA-2173789; R-HSA-597592; hsa04550; R-HSA-8878159; hsa04310 |
| 2 combinations linked to SMAD4 | OLI402; OLI1145 |
| 2 variants linked to SMAD4 | SMAD4:c.572C>T, p.Ser191Leu; SMAD4:c.424+5G>A, |
| 2 diseases linked to SMAD4 | Hereditary diffuse gastric cancer; Non-acquired combined pituitary hormone deficiency |