Gene table of CACNB4 : calcium voltage-gated channel auxiliary subunit beta 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CACNB4	OMIM link	Number of associated genes	genes
607682	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9	ClinVar, OMIM	link to OMIM	1	CACNB4
PS160120	EPISODIC ATAXIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	CACNA1A, KCNA1, CACNB4, SLC1A3

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Dilated cardiomyopathy	hsa05414	6.08
MAPK signaling pathway	hsa04010	4.63
Hypertrophic cardiomyopathy (HCM)	hsa05410	6.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	hsa05412	6.32
Cardiac muscle contraction	hsa04260	6.34
Adrenergic signaling in cardiomyocytes	hsa04261	5.44
Oxytocin signaling pathway	hsa04921	5.4

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels	R-HSA-112308	9.28
NCAM1 interactions	R-HSA-419037	7.59
Neuronal System	R-HSA-112316	4.82
Axon guidance	R-HSA-422475	3.93
Transmission across Chemical Synapses	R-HSA-112315	5.28
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
high voltage-gated calcium channel activity	GO:0008331	7.34
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
calcium ion transmembrane transporter activity	GO:0015085	4.89
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
voltage-gated cation channel activity	GO:0022843	4.83
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
voltage-gated ion channel activity	GO:0005244	4.49
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
voltage-gated calcium channel activity	GO:0005245	6.0
substrate-specific channel activity	GO:0022838	3.67