| GENE NAME | SMAD6 |
| CHROMOSOME | 15 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000137834 |
| UNIPROT ACCESSION NUMBER | O43541 |
| GO MOLECULAR FUNCTION | ['chromatin binding', 'R-SMAD binding', 'co-SMAD binding', 'I-SMAD binding', 'transcription cis-regulatory region binding', 'type I activin receptor binding', 'type I transforming growth factor beta receptor binding', 'protein binding', 'metal ion binding', 'transcription regulator inhibitor activity', 'ubiquitin protein ligase binding', 'identical protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04350; R-HSA-162582; R-HSA-201451; R-HSA-212436; R-HSA-73857; R-HSA-74160; R-HSA-8878166; R-HSA-8941326; R-HSA-9006936 |
| 12 combinations linked to SMAD6 | OLI1366; OLI1368; OLI574; OLI1361; OLI1360; OLI1359; OLI1362; OLI1365; OLI1358; OLI1363; OLI1367; OLI1364 |
| 12 variants linked to SMAD6 | SMAD6:c.1455dupC, p.Cys486LeufsTer79; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6:; SMAD6: |
| 4 diseases linked to SMAD6 | Non-syndromic metopic and sagittal craniosynostosis; Disorder of sex development; Non-syndromic sagittal craniosynostosis; Non-syndromic metopic craniosynostosis |