Gene table of CACNA2D4 : calcium voltage-gated channel auxiliary subunit alpha2delta 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CACNA2D4	OMIM link	Number of associated genes	genes
610478	RETINAL CONE DYSTROPHY 4	ClinVar, OMIM	link to OMIM	1	CACNA2D4

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific channel activity	GO:0022838	3.67
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
binding	GO:0005488	0.18
ion binding	GO:0043167	1.36
calcium ion transmembrane transporter activity	GO:0015085	4.89
molecular function regulator	GO:0098772	2.51
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
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
metal ion binding	GO:0046872	1.41
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	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
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
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