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Description for Protein KCNJ11

potassium inwardly-rectifying channel, subfamily J, member 11
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Potassium 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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05004
    KEGG - Pathway(s):
    hsa04930
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    IKATP; Potassium channel inwardly rectifying BIR subunit; Beta-cell inward rectifier subunit; BIR; ATP sensitive inward rectifier potassium channel II; Inward rectifier K+ channel Kir6.2; Potassium channel inwardly rectifying subfamily J member 11; Potassium inwardly-rectifying channel J11
    Approved Symbol:
    KCNJ11
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Diazoxide(db);
  • Glibenclamide(db);
  • Glimepiride(db);
  • Ibutilide(db);
  • Levosimendan(db);
  • Thiamylal(db);
  • Verapamil(db)

    Associated Genetic Diseases:

  • Diabetes mellitus, permanent neonatal(Pd);
  • Diabetes mellitus, permanent neonatal, with neurologic features(Pd);
  • Diabetes mellitus, transient neonatal, 3(Pd);
  • Diabetes mellitus, type II, susceptibility to(Pd);
  • Hyperinsulinemic hypoglycemia, familial, 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 09022 Entrez Gene ID: 3767 OMIM ID: 600937 Swissprot Accession: B4DWI4; B2RC52; Q14654;