Gene table of KCNV2 : potassium voltage-gated channel modifier subfamily V member 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNV2	OMIM link	Number of associated genes	genes
610356	RETINAL CONE DYSTROPHY 3B	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNV2

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

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
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
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
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
delayed rectifier potassium channel activity	GO:0005251	6.15
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
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
substrate-specific channel activity	GO:0022838	3.67
potassium ion transmembrane transporter activity	GO:0015079	4.77