Gene table of CACNB2 : calcium voltage-gated channel auxiliary subunit beta 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CACNB2	OMIM link	Number of associated genes	genes
PS601144	BRUGADA SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	KCNE3, KCND3, CACNB2, SCN3B, HCN4, CACNA1C, GPD1L, SCN5A, SCN1B
115000	CARDIAC ARRHYTHMIA	ClinVar	link to OMIM	25	KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1

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Annotation of the gene CACNB2

Associated genes in ENSEMBL

ENSG00000165995

Associated proteins - SwissProt Accession ID

Q08289

Associated PDB IDs

Cytogenetic Band

10p12.33

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
Regulation of insulin secretion	R-HSA-422356	6.66
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
Adrenaline,noradrenaline inhibits insulin secretion	R-HSA-400042	8.18
Integration of energy metabolism	R-HSA-163685	6.24
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels	R-HSA-112308	9.28
NCAM1 interactions	R-HSA-419037	7.59
Metabolism	R-HSA-1430728	2.34
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
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
molecular function regulator	GO:0098772	2.51
calcium ion transmembrane transporter activity	GO:0015085	4.89
voltage-gated calcium channel activity involved in cardiac muscle cell action potential	GO:0086007	8.13
kinase binding	GO:0019900	3.32
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
actin binding	GO:0003779	3.74
voltage-gated cation channel activity	GO:0022843	4.83
channel regulator activity	GO:0016247	4.88
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
actin filament binding	GO:0051015	4.93
protein kinase binding	GO:0019901	3.44
voltage-gated calcium channel activity involved in AV node cell action potential	GO:0086056	8.64
substrate-specific transporter activity	GO:0022892	2.72
protein domain specific binding	GO:0019904	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific channel activity	GO:0022838	3.67
cytoskeletal protein binding	GO:0008092	3.02
phosphoprotein binding	GO:0051219	5.64
protein complex binding	GO:0032403	3.09
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
calcium channel regulator activity	GO:0005246	6.15
voltage-gated calcium channel activity	GO:0005245	6.0
voltage-gated ion channel activity	GO:0005244	4.49