KCNJ11
entrez
3767
canonical
uniprot
Q14654
canonical
ensembl
ENSG00000187486
resolver
ensp
ENSP00000345708
resolver
ensp
ENSP00000434755
resolver
ensp
ENSP00000506780
resolver
ensp
ENSP00000508090
resolver
enst
ENST00000682350
resolver
enst
ENST00000682764
resolver
genesymbol
KCNJ11
resolver
hgnc
HGNC:6257
resolver
uniprot
A0A804HHV7
resolver
uniprot
B2RC52
resolver
uniprot
B4DWI4
resolver
uniprot
E9PNK0
resolver
uniprot
Q2M1H7
resolver
uniprot
Q58EX3
resolver
uniprot
Q8IW96
resolver
uniprot_entry
A0A804HHV7_HUMAN
resolver
uniprot_entry
B2RC52_HUMAN
resolver
uniprot_entry
KCJ11_HUMAN
resolver
uniprot_sec
B4DWI4
resolver
uniprot_sec
E9PNK0
resolver
uniprot_sec
Q2M1H7
resolver
uniprot_sec
Q58EX3
resolver
uniprot_sec
Q8IW96
resolver
activity_regulation
ACTIVITY REGULATION: KATP channels are regulated by cytoplasmic ATP/ADP ratios; ATP inhibits the channel by closing the pore, while ADP activates the channel (PubMed:29286281, PubMed:34815345). Activated by phosphatidylinositol 4,5-biphosphate (PtdIns(4,5)P2) (PubMed:34815345). {ECO:0000269|PubMed:29286281, ECO:0000269|PubMed:34815345}.
uniprot
proteins
amino_acid_sequence
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS
uniprot
proteins
disease_involvement
DISEASE: Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820]: A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:15998776, ECO:0000269|PubMed:16332676, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:18596924, ECO:0000269|PubMed:19357197, ECO:0000269|PubMed:7847376, ECO:0000269|PubMed:8923010}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856]: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:15115830, ECO:0000269|PubMed:15292329, ECO:0000269|PubMed:15448106, ECO:0000269|PubMed:15448107, ECO:0000269|PubMed:15580558, ECO:0000269|PubMed:15583126, ECO:0000269|PubMed:16609879, ECO:0000269|PubMed:16731833, ECO:0000269|PubMed:17213273, ECO:0000269|PubMed:17652641, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:20022885, ECO:0000269|PubMed:28842488}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, transient neonatal, 3 (TNDM3) [MIM:610582]: An autosomal dominant form of diabetes mellitus defined by the onset of insulin-requiring hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. TNDM3 onset is variable and onset in the third decade of life has been described in some patients. {ECO:0000269|PubMed:15718250, ECO:0000269|PubMed:15784703}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2.; DISEASE: Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:22701567}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:34815345). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). In pancreatic cells, it forms KATP channels with ABCC8/SUR1 (PubMed:29286281, PubMed:34815345). Can form cardiac and smooth muscle-type KATP channels with ABCC9. {ECO:0000250, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:28842488, ECO:0000269|PubMed:29286281, ECO:0000269|PubMed:34815345, ECO:0000269|PubMed:9831708}.
uniprot
proteins
mass_dalton
43526
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="V->M: Displays gain of function; increased open state stability, reduced ATP sensitivity and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels."; /evidence="ECO:0000269|PubMed:28842488"; MUTAGEN 166; /note="C->S: The mutant channel is locked in an open conformation; when associated in cis with D-334."; /evidence="ECO:0000269|PubMed:34815345"; MUTAGEN 334; /note="G->D: The mutant channel is locked in an open conformation; when associated in cis with S-166."; /evidence="ECO:0000269|PubMed:34815345
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity. {ECO:0000269|PubMed:18280666}.
uniprot
proteins
protein_family
Inward rectifier-type potassium channel (TC 1.A.2.1) family
uniprot
proteins
protein_family
KCNJ11 subfamily
uniprot
proteins
pubmed
10204114
uniprot
proteins
pubmed
10338089
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
12364426
uniprot
proteins
pubmed
12524280
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15115830
uniprot
proteins
pubmed
15292329
uniprot
proteins
pubmed
15448106
uniprot
proteins
pubmed
15448107
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15562009
uniprot
proteins
pubmed
15579781
uniprot
proteins
pubmed
15580558
uniprot
proteins
pubmed
15583126
uniprot
proteins
pubmed
15718250
uniprot
proteins
pubmed
15784703
uniprot
proteins
pubmed
15807877
uniprot
proteins
pubmed
15998776
uniprot
proteins
pubmed
16332676
uniprot
proteins
pubmed
16357843
uniprot
proteins
pubmed
16429405
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16609879
uniprot
proteins
pubmed
16731833
uniprot
proteins
pubmed
17213273
uniprot
proteins
pubmed
17652641
uniprot
proteins
pubmed
17855752
uniprot
proteins
pubmed
18280666
uniprot
proteins
pubmed
18596924
uniprot
proteins
pubmed
19357197
uniprot
proteins
pubmed
20022885
uniprot
proteins
pubmed
22701567
uniprot
proteins
pubmed
28842488
uniprot
proteins
pubmed
29286281
uniprot
proteins
pubmed
34815345
uniprot
proteins
pubmed
38366195
uniprot
proteins
pubmed
7502040
uniprot
proteins
pubmed
7847376
uniprot
proteins
pubmed
8897013
uniprot
proteins
pubmed
8923010
uniprot
proteins
pubmed
9032109
uniprot
proteins
pubmed
9831708
uniprot
proteins
sequence_length
390
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 66..92; /note="Helical; Name=M1"; /evidence="ECO:0000269|PubMed:34815345, ECO:0007744|PDB:7S5T"; TRANSMEM 143..171; /note="Helical; Name=M2"; /evidence="ECO:0000269|PubMed:34815345, ECO:0007744|PDB:7S5T
uniprot
proteins