KCNJ11 (potassium inwardly rectifying channel subfamily J member 11)

2014-02-01 Affiliation

Identity

HGNC

KCNJ11

LOCATION

11p15.1

LOCUSID

3767

ALIAS

BIR,HHF2,IKATP,KIR6.2,MODY13,PHHI,PNDM2,TNDM3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3767
MIM: 600937
HGNC: 6257
Ensembl: ENSG00000187486

Variants:

dbSNP: 3767
ClinVar: 3767
TCGA: ENSG00000187486
COSMIC: KCNJ11

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187486	ENST00000339994	Q14654
ENSG00000187486	ENST00000339994	B2RC52
ENSG00000187486	ENST00000526912	E9PPF1
ENSG00000187486	ENST00000528731	Q14654
ENSG00000187486	ENST00000528992	H0YES9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Type II diabetes mellitus	KEGG	ko04930
Type II diabetes mellitus	KEGG	hsa04930
Insulin secretion	KEGG	hsa04911
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Inwardly rectifying K+ channels	REACTOME	R-HSA-1296065
ATP sensitive Potassium channels	REACTOME	R-HSA-1296025
Disease	REACTOME	R-HSA-1643685
Disorders of transmembrane transporters	REACTOME	R-HSA-5619115
ABC transporter disorders	REACTOME	R-HSA-5619084
Muscle contraction	REACTOME	R-HSA-397014
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775
Defective ABCC8 can cause hypoglycemias and hyperglycemias	REACTOME	R-HSA-5683177

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10390	sulfonamides, urea derivatives	Chemical	ClinicalAnnotation, VariantAnnotation, VipGene	ambiguous	PK	PD	15448106, 15838686, 16595597, 16731836, 11318841, 16595597, 22385882, 24442125, 25115353
PA10892	gliclazide	Chemical	ClinicalAnnotation	associated	PK	PD	11318841, 16595597, 22385882, 24442125, 25115353
PA150527845	Persistent Hyperinsulinemia Hypoglycemia of Infancy	Disease	VipGene	associated			12199344
PA152530787	Diabetes, Permanent Neonatal (PNDM)	Disease	VipGene	associated			16087682, 15580558
PA164744895	gliquidone	Chemical	ClinicalAnnotation	associated	PK	PD	11318841, 16595597, 22385882, 24442125, 25115353
PA166154256	rs5219	Variant	VipGene	associated			11872696, 12196481, 12351459, 12475776, 12540637, 12540638, 12605956, 15111507, 15565284, 15579791, 15842514, 15855351, 16595597, 8897013, 9568693, 11318841
PA443635	Cardiovascular Diseases	Disease	VipGene	associated			16455067, 16782803, 14871556
PA443886	Diabetes Mellitus	Disease	ClinicalAnnotation, VipGene	associated	PK	PD	12540637, 12540638, 15111507, 15579791, 15784703, 15797964, 15842514, 16885550, 9032109, 11318841, 16595597, 22385882, 24442125, 25115353
PA443890	Diabetes Mellitus, Type 2	Disease	ClinicalAnnotation	associated		PD	11318841, 16595597, 20054294, 22264780, 22385882, 24442125, 25115353
PA449285	diazoxide	Chemical	VipGene	associated			15807877, 16885550, 12199344
PA449761	glimepiride	Chemical	ClinicalAnnotation	associated	PK	PD	11318841, 16595597, 22385882, 24442125, 25115353
PA449762	glipizide	Chemical	ClinicalAnnotation	associated	PK	PD	11318841, 16595597, 22385882, 24442125, 25115353
PA449782	glibenclamide	Chemical	ClinicalAnnotation	associated	PK	PD	11318841, 16595597, 22385882, 24442125, 25115353
PA450395	metformin	Chemical	ClinicalAnnotation	associated		PD	16595597
PA451234	repaglinide	Chemical	ClinicalAnnotation	associated		PD	20054294
PA451578	tacrolimus	Chemical	ClinicalAnnotation	associated		PD	22264780
PA451718	tolbutamide	Chemical	VariantAnnotation	not associated	PK		8897013
PA452249	antiarrhythmics, class i and iii	Chemical	VipGene	associated

References

Pubmed ID	Year	Title	Citations
17463248	2007	A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.	1102
19264985	2009	Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.	405
15115830	2004	Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.	307
19020323	2008	Genotype score in addition to common risk factors for prediction of type 2 diabetes.	304
19020324	2008	Clinical risk factors, DNA variants, and the development of type 2 diabetes.	262
12540637	2003	Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.	180
12540637	2003	Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.	180
18591388	2008	Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.	129
19380854	2009	Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.	108
18162506	2008	Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.	107

Citation

Dessen P

KCNJ11 (potassium inwardly rectifying channel subfamily J member 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53794/kcnj11