Gene table of KCNJ11 : potassium voltage-gated channel subfamily J member 11

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNJ11	OMIM link	Number of associated genes	genes
PS256450	HYPERINSULINEMIA HYPOGLYCEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	GCK, INSR, SLC16A1, GLUD1, HADH, ABCC8, KCNJ11
610582	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNJ11
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	ClinVar, OMIM	link to OMIM	33	SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11
606176	DIABETES MELLITUS, PERMANENT NEONATAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	ABCC8, INS, GCK, KCNJ11
616329	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	KCNJ11

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Annotation of the gene KCNJ11

Associated genes in ENSEMBL

ENSG00000187486

Associated proteins - SwissProt Accession ID

Q14654

Associated PDB IDs

Cytogenetic Band

11p15.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

HNF4A

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Insulin secretion	hsa04911	6.18
Type II diabetes mellitus	hsa04930	7.12

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
Regulation of insulin secretion	R-HSA-422356	6.66
Potassium Channels	R-HSA-1296071	6.35
ABC-family proteins mediated transport	R-HSA-382556	7.59
Integration of energy metabolism	R-HSA-163685	6.24
Transmembrane transport of small molecules	R-HSA-382551	3.79
Metabolism	R-HSA-1430728	2.34
Neuronal System	R-HSA-112316	4.82
ATP sensitive Potassium channels	R-HSA-1296025	10.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
substrate-specific channel activity	GO:0022838	3.67
cation channel activity	GO:0005261	4.04
purine ribonucleoside triphosphate binding	GO:0035639	2.22
heat shock protein binding	GO:0031072	5.24
heterocyclic compound binding	GO:1901363	1.06
protein C-terminus binding	GO:0008022	4.5
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
purine nucleoside binding	GO:0001883	2.22
ion channel binding	GO:0044325	5.02
nucleotide binding	GO:0000166	1.96
transmembrane receptor activity	GO:0099600	2.53
ankyrin binding	GO:0030506	6.74
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
potassium ion binding	GO:0030955	7.03
ATP-activated inward rectifier potassium channel activity	GO:0015272	8.13
ligand-gated ion channel activity	GO:0015276	4.8
ion binding	GO:0043167	1.36
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
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
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
nucleoside phosphate binding	GO:1901265	1.96
small molecule binding	GO:0036094	1.89
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
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl nucleotide binding	GO:0030554	2.4
alkali metal ion binding	GO:0031420	6.69
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
protein binding	GO:0005515	0.46
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