Gene table of KCNMA1 : potassium calcium-activated channel subfamily M alpha 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNMA1	OMIM link	Number of associated genes	genes
609446	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNMA1

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
cGMP-PKG signaling pathway	hsa04022	5.32
Salivary secretion	hsa04970	6.23
Pancreatic secretion	hsa04972	6.07
Insulin secretion	hsa04911	6.18
Vascular smooth muscle contraction	hsa04270	5.74

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Nitric oxide stimulates guanylate cyclase	R-HSA-392154	8.34
Potassium Channels	R-HSA-1296071	6.35
cGMP effects	R-HSA-418457	8.81
Platelet homeostasis	R-HSA-418346	6.68
Neuronal System	R-HSA-112316	4.82
Hemostasis	R-HSA-109582	3.98
Ca2+ activated K+ channels	R-HSA-1296052	9.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
cation channel activity	GO:0005261	4.04
calcium activated cation channel activity	GO:0005227	6.41
binding	GO:0005488	0.18
cation binding	GO:0043169	1.4
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
actin binding	GO:0003779	3.74
voltage-gated cation channel activity	GO:0022843	4.83
substrate-specific transporter activity	GO:0022892	2.72
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
protein binding	GO:0005515	0.46
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
large conductance calcium-activated potassium channel activity	GO:0060072	9.05
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
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
voltage-gated potassium channel activity	GO:0005249	5.24
ion gated channel activity	GO:0022839	5.98
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
calcium-activated potassium channel activity	GO:0015269	6.91