Property Summary

NCBI Gene PubMed Count 330
Grant Count 276
R01 Count 188
Funding $27,573,092.85
PubMed Score 1689.14
PubTator Score 774.13

Knowledge Summary

Patent (24,095)

Expression

Synonym

Accession Q14654 B4DWI4 E9PNK0 Q2M1H7 Q58EX3 Q8IW96
Symbols BIR
HHF2
PHHI
IKATP
TNDM3
KIR6.2
MODY13

Gene

 GWAS Trait (1)

Gene RIF (325)

PMID Text
26841550 Polymorphism rs5219 of KCNJ11 gene is associated with type 2 diabetes.
26590798 This studypredict response ketogenic dietary therapies. showed that Common variants in KCNJ11 and BAD do not response to ketogenic diety therapy.
26448950 KCNJ11 genetic variants may have a role in the development of diabetes mellitus [review]
25955821 These calculations identified causal genetic variation within the ABCC8/KCNJ11 region for type 2 diabetes mellitus.
25931017 The hORs were coupled to the Kir6.2 potassium channel for simple odorant detection.
25916116 genotypes of the polymorphic markers of KCNJ11, SLC30A8 and CDKN2B genes showed the presence of association with T2DM in Russian population, while for the FTO gene was not found statistically significant associations with type 2 diabetes
25877689 We performed a retrospective cohort study using data on 58 individuals with neonatal diabetes due to KCNJ11 mutations
25781672 Mutations in KCNJ11 are associated with neonatal diabetes mellitus.
25765446 study investigated mutations in the KATP channel genes, allelic copy number and imprinting status at 11p15 in patients with congenital hyperinsulinism (CHI); found epigenetic alteration at the 11p15 region plays a central role in developing focal CHI by paternally derived mutations of the KATP channel and maternal allelic loss at this region
25725792 A190A-TT or E23K-GG of the KCNJ11 in carriers had higher systolic blood pressure (SBP) than CC or AA carriers in the non-diabetic control and T2DM groups (both p < 0.05).
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AA Sequence

MLSRKGIIPEEYVLTRLAEDPAEPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPH      1 - 70
TLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTE     71 - 140
ECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMI    141 - 210
ISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQD    211 - 280
LEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLD    281 - 350
EDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS                                  351 - 390
//

Text Mined References (333)

PMID Year Title
26841550 2015 [The study of the association of polymorphism rs5219 gene KCNJ11 with obesity and the risk of type 2 diabetes among residents of the Moscow Region].
26590798 2015 Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.
26448950 2015 KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
25955821 2015 Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.
25931017 2015 Coupling of olfactory receptor and ion channel for rapid and sensitive visualization of odorant response.
25916116 [Association of the polymorphisms of the FTO, KCNJ11, SLC30A8 and CDKN2B genes with type 2 diabetes].
25877689 2015 Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
25781672 2015 Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.
25765446 2015 Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.
25725792 2015 The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and blood pressure in the Chinese population.
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