full name
potassium voltage-gated channel subfamily J member 11
synonyms
BIR, HHF2, IKATP, KIR6.2, PHHI, TNDM3, KCNJ11, ENSG00000187486
HGNC
HGNC:6257
Entrez Gene
Gene:3767
ENSEMBL
ENSG00000187486
location
chr: 11
start: 17406795
stop: 17410878
strand: -
OMIM
OMIM:600937:
KCNJ11
(Autosomal dominant inheritance)
OMIM:610582:
Diabetes mellitus, transient neonatal, 3
OMIM:618856:
Diabetes, permanent neonatal 2, with or without neurologic features
OMIM:601820:
Hyperinsulinemic hypoglycemia, familial, 2
OMIM:616329:
Maturity-onset diabetes of the young, type 13
OMIM:125853:
{Diabetes mellitus, type 2, susceptibility to}
transcripts
NM_001166290.1
NM_000525.3
pathways
ABC transporter disorders
[NCBI:1268933]
[REACTOME:R-HSA-5619084]
[PUBMED:21740521]
[PUBMED:16399363]
[PUBMED:23415156]
[PUBMED:21389634]
[PUBMED:21488864]
[PUBMED:21554546]
ABC-family proteins mediated transport
[NCBI:1269904]
[REACTOME:R-HSA-382556]
[PUBMED:11435397]
[PUBMED:12045106]
[PUBMED:19234479]
ATP sensitive Potassium channels
[NCBI:1268828]
[REACTOME:R-HSA-1296025]
[PUBMED:18258787]
[PUBMED:19787700]
Cardiac conduction
[NCBI:1339115]
[REACTOME:R-HSA-5576891]
[PUBMED:19808464]
[PUBMED:26140724]
[PUBMED:21357845]
Defective ABCC8 can cause hypoglycemias and hyperglycemias
[NCBI:1339134]
[REACTOME:R-HSA-5683177]
[PUBMED:25317244]
[PUBMED:25077087]
[PUBMED:20500788]
[PUBMED:20922570]
[PUBMED:18767144]
Disease
[NCBI:1268854]
[REACTOME:R-HSA-1643685]
Disorders of transmembrane transporters
[NCBI:1268932]
[REACTOME:R-HSA-5619115]
[PUBMED:16399363]
FOXA2 and FOXA3 transcription factor networks
[NCBI:137911]
[Pathway Interaction Database:hnf3bpathway]
[PUBMED:14500912]
[PUBMED:9632808]
[PUBMED:8668179]
[PUBMED:2786140]
[PUBMED:10748140]
[PUBMED:8662915]
[PUBMED:12865419]
[PUBMED:12145169]
[PUBMED:15314688]
[PUBMED:12911579]
[PUBMED:15123725]
[PUBMED:16098831]
[PUBMED:10455192]
[PUBMED:15616563]
[PUBMED:7524494]
[PUBMED:7565696]
[PUBMED:15959514]
[PUBMED:11278466]
[PUBMED:9369482]
[PUBMED:8813720]
Insulin secretion
[NCBI:777534]
[KEGG:hsa04911]
[PUBMED:9715374]
[PUBMED:10605628]
[PUBMED:9914469]
[PUBMED:17306374]
[PUBMED:20055708]
[PUBMED:15655710]
[PUBMED:19817784]
[PUBMED:19074620]
[PUBMED:14693691]
[PUBMED:17084085]
[PUBMED:20551594]
[PUBMED:19036624]
[PUBMED:22970724]
[PUBMED:20225132]
[PUBMED:19817800]
[PUBMED:22974438]
[PUBMED:21934040]
[PUBMED:15271645]
[PUBMED:19660440]
[PUBMED:11522660]
Integration of energy metabolism
[NCBI:1270101]
[REACTOME:R-HSA-163685]
[PUBMED:15509864]
[PUBMED:12721358]
[PUBMED:12626323]
Inwardly rectifying K+ channels
[NCBI:1268824]
[REACTOME:R-HSA-1296065]
[PUBMED:20086079]
[PUBMED:18087715]
[PUBMED:18691387]
Ion homeostasis
[NCBI:1339121]
[REACTOME:R-HSA-5578775]
[PUBMED:26140724]
[PUBMED:17017901]
Metabolism
[NCBI:1269956]
[REACTOME:R-HSA-1430728]
Muscle contraction
[NCBI:1269868]
[REACTOME:R-HSA-397014]
Neuronal System
[NCBI:1268763]
[REACTOME:R-HSA-112316]
Potassium Channels
[NCBI:1268821]
[REACTOME:R-HSA-1296071]
[PUBMED:20813163]
[PUBMED:19584315]
[PUBMED:1822292]
[PUBMED:18446619]
[PUBMED:18413784]
[PUBMED:20213494]
[PUBMED:20086079]
Regulation of insulin secretion
[NCBI:1270102]
[REACTOME:R-HSA-422356]
[PUBMED:18200017]
[PUBMED:11078440]
[PUBMED:16321791]
[PUBMED:11815463]
[PUBMED:16556766]
Transmembrane transport of small molecules
[NCBI:1269903]
[REACTOME:R-HSA-382551]
Type II diabetes mellitus
[NCBI:83094]
[KEGG:hsa04930]
[PUBMED:12480546]
[PUBMED:15759102]
[PUBMED:9011569]
[PUBMED:11078440]
[PUBMED:11390407]
[PUBMED:15258147]
[PUBMED:15823385]
[PUBMED:11272200]
[PUBMED:11325516]
[PUBMED:15733744]
[PUBMED:9974390]
[PUBMED:7491105]
[PUBMED:15585596]
