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

Gene-disease associations table

Disease IDDisease nameSource of annotation with KCNJ13OMIM linkNumber of associated genesgenes
193230VITREORETINAL DEGENERATION, SNOWFLAKE TYPEClinVar, OMIM, HUMSAVAR link to OMIM 1KCNJ13
PS204000LEBER CONGENITAL AMAUROSISClinVar, OMIM, HUMSAVAR link to OMIM 19TULP1, PRPH2, LRAT, SPATA7, CEP290, RDH12, RPE65, CRX, GDF6, GUCY2D, ROM1, IMPDH1, KCNJ13, RD3, NMNAT1, LCA5, RPGRIP1, CRB1, AIPL1

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Annotation of the gene KCNJ13

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 pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
potassium channel activityGO:00052674.94
cation channel activityGO:00052614.04
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
substrate-specific channel activityGO:00228383.67
ligand-gated ion channel activityGO:00152764.8
transmembrane transporter activityGO:00228572.82
voltage-gated cation channel activityGO:00228434.83
passive transmembrane transporter activityGO:00228033.6
metal ion transmembrane transporter activityGO:00468733.71
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific transporter activityGO:00228922.72
ion transmembrane transporter activityGO:00150753.04
voltage-gated channel activityGO:00228324.49
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
channel activityGO:00152673.6
gated channel activityGO:00228363.96
voltage-gated potassium channel activityGO:00052495.24
ligand-gated channel activityGO:00228344.8
voltage-gated ion channel activityGO:00052444.49
potassium ion transmembrane transporter activityGO:00150794.77
inward rectifier potassium channel activityGO:00052426.65
transmembrane receptor activityGO:00996002.53