Gene table of KCNJ2 : potassium voltage-gated channel subfamily J member 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNJ2	OMIM link	Number of associated genes	genes
PS609620	SHORT QT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	KCNJ2, KCNH2, KCNQ1
PS608583	ATRIAL FIBRILLATION, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	SCN3B, NUP155, SCN2B, KCNQ1, GJA5, ABCC9, SCN4B, KCNE2, KCNJ2, KCNA5, SCN5A, NPPA, SCN1B
PS192500	LONG QT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	16	ALG10, KCNJ5, KCNH2, CALM1, CALM2, KCNE1, ANK2, AKAP9, SCN5A, SCN4B, SNTA1, CACNA1C, KCNE2, KCNJ2, KCNQ1, CAV3
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 KCNJ2

Associated genes in ENSEMBL

ENSG00000123700

Associated proteins - SwissProt Accession ID

P63252

Associated PDB IDs

Cytogenetic Band

17q24.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Gastric acid secretion	hsa04971	6.48
Cholinergic synapse	hsa04725	5.88
Oxytocin signaling pathway	hsa04921	5.4

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits	R-HSA-997272	8.34
Activation of G protein gated Potassium channels	R-HSA-1296041	8.34
Potassium Channels	R-HSA-1296071	6.35
GABA receptor activation	R-HSA-977443	7.2
Activation of GABAB receptors	R-HSA-991365	7.7
G protein gated Potassium channels	R-HSA-1296059	8.34
GABA B receptor activation	R-HSA-977444	7.7
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28
Classical Kir channels	R-HSA-1296053	10.98

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
G-protein activated inward rectifier potassium channel activity	GO:0015467	7.44
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
phospholipid binding	GO:0005543	3.91
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	7.79
ligand-gated ion channel activity	GO:0015276	4.8
phosphatidylinositol-4,5-bisphosphate binding	GO:0005546	5.81
phosphatidylinositol bisphosphate binding	GO:1902936	5.79
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
identical protein binding	GO:0042802	2.63
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
lipid binding	GO:0008289	3.26
substrate-specific transporter activity	GO:0022892	2.72
phosphatidylinositol phosphate binding	GO:1901981	5.05
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
phosphatidylinositol binding	GO:0035091	4.47
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
voltage-gated potassium channel activity	GO:0005249	5.24
ligand-gated channel activity	GO:0022834	4.8
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
inward rectifier potassium channel activity	GO:0005242	6.65
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32