GENE NAME | CACNA2D4 |
CHROMOSOME | 12 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000151062 |
UNIPROT ACCESSION NUMBER | Q7Z3S7 |
GO MOLECULAR FUNCTION | ['voltage-gated calcium channel activity', 'metal ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04010; hsa04260; hsa04261; hsa04921; hsa05410; hsa05412; hsa05414 |
2 combinations linked to CACNA2D4 | OLI1461; OLI1468 |
2 variants linked to CACNA2D4 | CACNA2D4:c.2095C>T, p.Leu699Phe; CACNA2D4:c.3245G>A, p.Cys1082Tyr |
1 disease linked to CACNA2D4 | Rare pervasive developmental disorder |