Gene table of KCNJ10 : potassium voltage-gated channel subfamily J member 10

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNJ10	OMIM link	Number of associated genes	genes
612780	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNJ10
PS220290	DEAFNESS, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	60	CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA

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Annotation of the gene KCNJ10

Associated genes in ENSEMBL

ENSG00000177807

Associated proteins - SwissProt Accession ID

P78508

Associated PDB IDs

Cytogenetic Band

1q23.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Gastric acid secretion	hsa04971	6.48

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits	R-HSA-997272	8.34
Activation of G protein gated Potassium channels	R-HSA-1296041	8.34
Potassium Channels	R-HSA-1296071	6.35
Potassium transport channels	R-HSA-1296067	11.4
GABA receptor activation	R-HSA-977443	7.2
Activation of GABAB receptors	R-HSA-991365	7.7
G protein gated Potassium channels	R-HSA-1296059	8.34
GABA B receptor activation	R-HSA-977444	7.7
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28

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
purine ribonucleoside triphosphate binding	GO:0035639	2.22
heterocyclic compound binding	GO:1901363	1.06
G-protein activated inward rectifier potassium channel activity	GO:0015467	7.44
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
purine nucleoside binding	GO:0001883	2.22
transmembrane receptor activity	GO:0099600	2.53
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ATP-activated inward rectifier potassium channel activity	GO:0015272	8.13
ligand-gated ion channel activity	GO:0015276	4.8
nucleotide binding	GO:0000166	1.96
transmembrane transporter activity	GO:0022857	2.82
voltage-gated cation channel activity	GO:0022843	4.83
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
small molecule binding	GO:0036094	1.89
substrate-specific transporter activity	GO:0022892	2.72
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 channel activity	GO:0022838	3.67
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
inward rectifier potassium channel activity	GO:0005242	6.65
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
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
voltage-gated potassium channel activity	GO:0005249	5.24
ligand-gated channel activity	GO:0022834	4.8
purine ribonucleotide binding	GO:0032555	2.2
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32