| GENE NAME | SPTBN1 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000115306 |
| UNIPROT ACCESSION NUMBER | Q01082 |
| GO MOLECULAR FUNCTION | ['structural constituent of cytoskeleton', 'RNA binding', 'ankyrin binding', 'actin filament binding', 'cadherin binding', 'calmodulin binding', 'actin binding', 'protein binding', 'GTPase binding', 'phospholipid binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1266738; R-HSA-1500931; R-HSA-162582; R-HSA-1643685; R-HSA-199977; R-HSA-199991; R-HSA-373753; R-HSA-373760; R-HSA-375165; R-HSA-392499; R-HSA-422475; R-HSA-445095; R-HSA-446203; R-HSA-5653656; R-HSA-5663202; R-HSA-5673001; R-HSA-5683057; R-HSA-5684996; R-HSA-597592; R-HSA-6807878; R-HSA-948021; R-HSA-9675108; R-HSA-9682385; R-HSA-9703465 |
| 1 combination linked to SPTBN1 | OLI1472 |
| 1 variant linked to SPTBN1 | SPTBN1:c.155G>A, p.Arg52His |
| 1 disease linked to SPTBN1 | Familial bicuspid aortic valve |