Gene table of KCNH2 : potassium voltage-gated channel subfamily H member 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNH2	OMIM link	Number of associated genes	genes
272120	SUDDEN INFANT DEATH SYNDROME	ClinVar	link to OMIM	7	KCNJ8, KCNQ1, CAV3, SCN4B, GPD1L, KCNH2, SCN5A
PS604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	ClinVar	link to OMIM	15	TRDN, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, DSP, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
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
PS609620	SHORT QT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	KCNJ2, KCNH2, KCNQ1
603829	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	ClinVar	link to OMIM	13	DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP

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Annotation of the gene KCNH2

Associated genes in ENSEMBL

ENSG00000055118

Associated proteins - SwissProt Accession ID

Q12809

Associated PDB IDs

Cytogenetic Band

7q36.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Neuronal System	R-HSA-112316	4.82
Voltage gated Potassium channels	R-HSA-1296072	7.56
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
ubiquitin-like protein ligase binding	GO:0044389	4.15
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
ligand-gated channel activity	GO:0022834	4.8
substrate-specific transporter activity	GO:0022892	2.72
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
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
transferase activity	GO:0016740	1.95
voltage-gated cation channel activity	GO:0022843	4.83
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	8.35
protein kinase activity	GO:0004672	3.27
delayed rectifier potassium channel activity	GO:0005251	6.15
metal ion transmembrane transporter activity	GO:0046873	3.71
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
kinase activity	GO:0016301	2.93
protein histidine kinase activity	GO:0004673	7.79
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
cation channel activity	GO:0005261	4.04
catalytic activity	GO:0003824	1.05
ubiquitin protein ligase binding	GO:0031625	4.17
protein domain specific binding	GO:0019904	3.32
passive transmembrane transporter activity	GO:0022803	3.6
C3HC4-type RING finger domain binding	GO:0055131	7.95
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
protein binding	GO:0005515	0.46
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
phosphorelay sensor kinase activity	GO:0000155	7.95
phosphotransferase activity, nitrogenous group as acceptor	GO:0016775	7.25
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
voltage-gated potassium channel activity	GO:0005249	5.24
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
protein dimerization activity	GO:0046983	2.72
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