Details for Gene CACNA2D4

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

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