| GENE NAME | CACNA1B |
| CHROMOSOME | 9 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000148408 |
| UNIPROT ACCESSION NUMBER | Q00975 |
| GO MOLECULAR FUNCTION | ['amyloid-beta binding', 'high voltage-gated calcium channel activity', 'ATP binding', 'calcium ion binding', 'protein C-terminus binding', 'protein binding', 'voltage-gated calcium channel activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04010; hsa04020; hsa04721; hsa04723; hsa04725; hsa04726; hsa04727; hsa04728; hsa04930; hsa05016; hsa05020; hsa05022; hsa05032; hsa05033; R-HSA-112308; R-HSA-112315; R-HSA-112316 |
| 1 combination linked to CACNA1B | OLI1466 |
| 1 variant linked to CACNA1B | CACNA1B:c.3370A>G, p.Ile1124Val |
| 1 disease linked to CACNA1B | Rare pervasive developmental disorder |