Gene table of KCNQ2 : potassium voltage-gated channel subfamily Q member 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNQ2	OMIM link	Number of associated genes	genes
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA
PS121200	SEIZURES, BENIGN FAMILIAL NEONATAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	KCNQ3, KCNQ2

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
Cholinergic synapse	hsa04725	5.88

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
L1CAM interactions	R-HSA-373760	6.19
Potassium Channels	R-HSA-1296071	6.35
Interaction between L1 and Ankyrins	R-HSA-445095	8.03
Neuronal System	R-HSA-112316	4.82
Voltage gated Potassium channels	R-HSA-1296072	7.56
Axon guidance	R-HSA-422475	3.93
Developmental Biology	R-HSA-1266738	3.48

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
binding	GO:0005488	0.18
substrate-specific channel activity	GO:0022838	3.67
ankyrin binding	GO:0030506	6.74
transmembrane transporter activity	GO:0022857	2.82
voltage-gated cation channel activity	GO:0022843	4.83
delayed rectifier potassium channel activity	GO:0005251	6.15
metal ion transmembrane transporter activity	GO:0046873	3.71
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
passive transmembrane transporter activity	GO:0022803	3.6
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
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
protein binding	GO:0005515	0.46
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77