KCNJ11 (potassium inwardly rectifying channel subfamily J member 11)

2014-02-01  

Identity

HGNC
KCNJ11
LOCATION
11p15.1
LOCUSID
3767
ALIAS
BIR,HHF2,IKATP,KIR6.2,MODY13,PHHI,PNDM2,TNDM3

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187486ENST00000339994Q14654
ENSG00000187486ENST00000339994B2RC52
ENSG00000187486ENST00000526912E9PPF1
ENSG00000187486ENST00000528731Q14654
ENSG00000187486ENST00000528992H0YES9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

PathwaySourceExternal ID
Type II diabetes mellitusKEGGko04930
Type II diabetes mellitusKEGGhsa04930
Insulin secretionKEGGhsa04911
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
ATP sensitive Potassium channelsREACTOMER-HSA-1296025
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775
Defective ABCC8 can cause hypoglycemias and hyperglycemiasREACTOMER-HSA-5683177

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10390sulfonamides, urea derivativesChemicalClinicalAnnotation, VariantAnnotation, VipGeneambiguousPKPD15448106, 15838686, 16595597, 16731836, 11318841, 16595597, 22385882, 24442125, 25115353
PA10892gliclazideChemicalClinicalAnnotationassociatedPKPD11318841, 16595597, 22385882, 24442125, 25115353
PA150527845Persistent Hyperinsulinemia Hypoglycemia of InfancyDiseaseVipGeneassociated12199344
PA152530787Diabetes, Permanent Neonatal (PNDM)DiseaseVipGeneassociated16087682, 15580558
PA164744895gliquidoneChemicalClinicalAnnotationassociatedPKPD11318841, 16595597, 22385882, 24442125, 25115353
PA166154256rs5219VariantVipGeneassociated11872696, 12196481, 12351459, 12475776, 12540637, 12540638, 12605956, 15111507, 15565284, 15579791, 15842514, 15855351, 16595597, 8897013, 9568693, 11318841
PA443635Cardiovascular DiseasesDiseaseVipGeneassociated16455067, 16782803, 14871556
PA443886Diabetes MellitusDiseaseClinicalAnnotation, VipGeneassociatedPKPD12540637, 12540638, 15111507, 15579791, 15784703, 15797964, 15842514, 16885550, 9032109, 11318841, 16595597, 22385882, 24442125, 25115353
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD11318841, 16595597, 20054294, 22264780, 22385882, 24442125, 25115353
PA449285diazoxideChemicalVipGeneassociated15807877, 16885550, 12199344
PA449761glimepirideChemicalClinicalAnnotationassociatedPKPD11318841, 16595597, 22385882, 24442125, 25115353
PA449762glipizideChemicalClinicalAnnotationassociatedPKPD11318841, 16595597, 22385882, 24442125, 25115353
PA449782glibenclamideChemicalClinicalAnnotationassociatedPKPD11318841, 16595597, 22385882, 24442125, 25115353
PA450395metforminChemicalClinicalAnnotationassociatedPD16595597
PA451234repaglinideChemicalClinicalAnnotationassociatedPD20054294
PA451578tacrolimusChemicalClinicalAnnotationassociatedPD22264780
PA451718tolbutamideChemicalVariantAnnotationnot associatedPK8897013
PA452249antiarrhythmics, class i and iiiChemicalVipGeneassociated

References

Pubmed IDYearTitleCitations
384111502024An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.0
386757222024Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.0
384111502024An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.0
386757222024Molecular Dynamics Simulation of Kir6.2 Variants Reveals Potential Association with Diabetes Mellitus.0
370527552023Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.5
371756332023Protection against Ischemic Heart Disease: A Joint Role for eNOS and the K(ATP) Channel.3
373418502023Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.0
370527552023Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.5
371756332023Protection against Ischemic Heart Disease: A Joint Role for eNOS and the K(ATP) Channel.3
373418502023Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.0
353058682022Association between KCNJ11 E23K polymorphism and the risk of type 2 diabetes mellitus: A global meta-analysis.1
358226532022Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria.5
358930512022KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.4
359965122022The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran.0
364013802022Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population.3

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