Gene table of KCNJ13 : potassium voltage-gated channel subfamily J member 13

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNJ13	OMIM link	Number of associated genes	genes
193230	VITREORETINAL DEGENERATION, SNOWFLAKE TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNJ13
PS204000	LEBER CONGENITAL AMAUROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	19	TULP1, PRPH2, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, GUCY2D, ROM1, IMPDH1, KCNJ13, RD3, NMNAT1, LCA5, RPGRIP1, CRB1, AIPL1

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
Protein digestion and absorption	hsa04974	6.2

Associated REACTOME pathways

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
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
substrate-specific channel activity	GO:0022838	3.67
ligand-gated ion channel activity	GO:0015276	4.8
transmembrane transporter activity	GO:0022857	2.82
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
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
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
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