Gene table of KCNJ8 : potassium voltage-gated channel subfamily J member 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNJ8	OMIM link	Number of associated genes	genes
272120	SUDDEN INFANT DEATH SYNDROME	HUMSAVAR	link to OMIM	7	KCNJ8, KCNQ1, CAV3, SCN4B, GPD1L, KCNH2, SCN5A
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 KCNJ8

Associated genes in ENSEMBL

ENSG00000121361

Associated proteins - SwissProt Accession ID

Q15842

Associated PDB IDs

Cytogenetic Band

12p12.1

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Neuronal System	R-HSA-112316	4.82
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
ATP sensitive Potassium channels	R-HSA-1296025	10.98
Potassium Channels	R-HSA-1296071	6.35

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
purine ribonucleoside triphosphate binding	GO:0035639	2.22
heterocyclic compound binding	GO:1901363	1.06
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
purine nucleoside binding	GO:0001883	2.22
transmembrane receptor activity	GO:0099600	2.53
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
passive transmembrane transporter activity	GO:0022803	3.6
ligand-gated ion channel activity	GO:0015276	4.8
nucleotide binding	GO:0000166	1.96
transmembrane transporter activity	GO:0022857	2.82
voltage-gated cation channel activity	GO:0022843	4.83
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
ATP-activated inward rectifier potassium channel activity	GO:0015272	8.13
ATP binding	GO:0005524	2.43
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
small molecule binding	GO:0036094	1.89
substrate-specific transporter activity	GO:0022892	2.72
sulfonylurea receptor binding	GO:0017098	8.64
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
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
inward rectifier potassium channel activity	GO:0005242	6.65
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
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
voltage-gated potassium channel activity	GO:0005249	5.24
ligand-gated channel activity	GO:0022834	4.8
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32