Gene table of KCNQ1 : potassium voltage-gated channel subfamily Q member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNQ1	OMIM link	Number of associated genes	genes
220400	JERVELL AND LANGE-NIELSEN SYNDROME 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	KCNQ1, KCNE1
272120	SUDDEN INFANT DEATH SYNDROME	ClinVar	link to OMIM	7	KCNJ8, KCNQ1, CAV3, SCN4B, GPD1L, KCNH2, SCN5A
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
PS608583	ATRIAL FIBRILLATION, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	SCN3B, NUP155, SCN2B, KCNQ1, GJA5, ABCC9, SCN4B, KCNE2, KCNJ2, KCNA5, SCN5A, NPPA, SCN1B

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Annotation of the gene KCNQ1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

P51787

Associated PDB IDs

Cytogenetic Band

11p15.5

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Gastric acid secretion	hsa04971	6.48
Pancreatic secretion	hsa04972	6.07
Protein digestion and absorption	hsa04974	6.2
Cholinergic synapse	hsa04725	5.88
Vibrio cholerae infection	hsa05110	6.86
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

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
cation channel activity	GO:0005261	4.04
enzyme binding	GO:0019899	2.27
protein kinase A catalytic subunit binding	GO:0034236	7.03
protein kinase A regulatory subunit binding	GO:0034237	6.97
ion channel binding	GO:0044325	5.02
calmodulin binding	GO:0005516	4.55
protein phosphatase 1 binding	GO:0008157	6.69
passive transmembrane transporter activity	GO:0022803	3.6
outward rectifier potassium channel activity	GO:0015271	7.44
phospholipid binding	GO:0005543	3.91
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	7.79
transmembrane transporter activity	GO:0022857	2.82
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
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	8.35
delayed rectifier potassium channel activity	GO:0005251	6.15
metal ion transmembrane transporter activity	GO:0046873	3.71
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.05
protein kinase A binding	GO:0051018	6.02
voltage-gated potassium channel activity	GO:0005249	5.24
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
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
protein phosphatase binding	GO:0019903	4.93
phosphatase binding	GO:0019902	4.63
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 transporter activity	GO:0022892	2.72
voltage-gated ion channel activity	GO:0005244	4.49
phosphatidylinositol binding	GO:0035091	4.47
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
scaffold protein binding	GO:0097110	5.93
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
substrate-specific channel activity	GO:0022838	3.67
potassium ion transmembrane transporter activity	GO:0015079	4.77
binding	GO:0005488	0.18