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MGP001728

Record overview

MGPD IDMGP001728
Gene ID3767
SpeciesHomo sapiens (Human)
Gene Namepotassium channel, inwardly rectifying subfamily J, member 11
Gene Symbol KCNJ11
SynonymsBIR; HHF2; PHHI; IKATP; TNDM3; KIR6.2;
Alternate namesATP-sensitive inward rectifier potassium channel 11; beta-cell inward rectifier subunit; inward rectifier K(+) channel Kir6.2; inwardly rectifying potassium channel KIR6.2; potassium channel inwardly rectifing subfamily J member 11; potassium channel, inwardly rectifying subfamily J member 11; potassium inwardly-rectifying channel, subfamily J, member 11;
Chromosome11
Map Location11p15.1
SummaryPotassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
OrthologsView orthologs and multiple alignments for KCNJ11

Proteins

ATP-sensitive inward rectifier potassium channel 11 isoform 1
Refseq ID:NP_000516
Protein GI:62388888
UniProt ID:B2RC52
mRNA ID:NM_000525
Length:390
RefSeq Status:
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDL
APSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFML
RVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQA
RTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS
 
ATP-sensitive inward rectifier potassium channel 11 isoform 2
Refseq ID:NP_001159762
Protein GI:261399884
UniProt ID:Q14654
mRNA ID:NM_001166290
Length:303
RefSeq Status:
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAETLIFSKHA
VIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVIL
EGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPD
SLS
 
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