Details for Gene CACNA1C

GENE NAME CACNA1C
CHROMOSOME 12
ENSEMBL ID ENSG00000151067
ENTREZ ID 775
UNIPROT ACCESSION NUMBER Q13936
GO MOLECULAR FUNCTION voltage-gated ion channel activity; voltage-gated calcium channel activity; high voltage-gated calcium channel activity; ion channel activity; calcium channel activity; calmodulin binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-400042; hsa04934; hsa04270; hsa04713; hsa04261; hsa04022; R-HSA-422356; hsa05410; hsa04924; hsa04260; hsa04723; hsa05412; hsa04024; hsa04925; hsa05022; hsa04727; hsa04724; hsa05010; hsa05020; R-HSA-5576893; hsa04010; hsa04726; hsa04742; hsa04020; hsa05031; hsa04912; hsa04929; R-HSA-1266738; R-HSA-5576891; hsa04725; hsa04728; R-HSA-375165; hsa04911; hsa05031; hsa04912; hsa04929; R-HSA-5576892; hsa04911; hsa04725; hsa04728; R-HSA-163685; hsa04727; hsa04024; hsa04925; hsa05022; hsa05412; R-HSA-1430728; hsa05010; hsa05020; hsa04724; hsa04742; hsa04726; R-HSA-397014; hsa04010; hsa04020; hsa04720; hsa05410; hsa04924; hsa05414; hsa04723; hsa04260; R-HSA-419037; hsa04934; hsa04930; hsa04935; hsa04921; hsa04270; hsa04713; hsa04022; hsa04261; R-HSA-422475; R-HSA-9675108; hsa04927; hsa04935; hsa04930; hsa04921; hsa04927; hsa04720; hsa05414
11 combinations linked to CACNA1C OLI480; OLI645; OLI493; OLI490; OLI482; OLI486; OLI481; OLI494; OLI476; OLI492; OLI647
9 variants linked to CACNA1C CACNA1C:; CACNA1C:; CACNA1C:; CACNA1C:; CACNA1C:; CACNA1C:; CACNA1C:; CACNA1C:c.5747A>G, p.Gln1916Arg; CACNA1C:c.5383G>A, p.Gly1795Arg
3 diseases linked to CACNA1C Early repolarization syndrome; Rare pervasive developmental disorder; Sudden infant death syndrome
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