| GENE NAME | CACNB2 |
| CHROMOSOME | 10 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000165995 |
| UNIPROT ACCESSION NUMBER | Q08289 |
| GO MOLECULAR FUNCTION | ['voltage-gated calcium channel activity involved in cardiac muscle cell action potential', 'high voltage-gated calcium channel activity', 'calcium channel activity', 'actin filament binding', 'voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels', 'protein binding', 'voltage-gated calcium channel activity', 'voltage-gated calcium channel activity involved in AV node cell action potential'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04010; hsa04260; hsa04261; hsa04921; hsa05410; hsa05412; hsa05414; R-HSA-112308; R-HSA-112315; R-HSA-112316; R-HSA-1266738; R-HSA-1430728; R-HSA-163685; R-HSA-375165; R-HSA-397014; R-HSA-400042; R-HSA-419037; R-HSA-422356; R-HSA-422475; R-HSA-5576891; R-HSA-5576892; R-HSA-5576893; R-HSA-9675108 |
| 1 combination linked to CACNB2 | OLI1469 |
| 1 variant linked to CACNB2 | CACNB2:c.1891C>T, p.Arg631Cys |
| 1 disease linked to CACNB2 | Rare pervasive developmental disorder |