Gene table of CACNA1H : calcium voltage-gated channel subunit alpha1 H

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CACNA1H	OMIM link	Number of associated genes	genes
611942	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CACNA1H

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
Axon guidance	R-HSA-422475	3.93
NCAM1 interactions	R-HSA-419037	7.59
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
low voltage-gated calcium channel activity	GO:0008332	8.64
binding	GO:0005488	0.18
ion binding	GO:0043167	1.36
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
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 transporter activity	GO:0022892	2.72
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
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
scaffold protein binding	GO:0097110	5.93
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
voltage-gated calcium channel activity	GO:0005245	6.0
voltage-gated ion channel activity	GO:0005244	4.49