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FLASH GENE
Symbol KCNJ11 contributors: mct/shn - updated : 21-11-2010
HGNC name potassium inwardly-rectifying channel, subfamily J, member 11
HGNC id 6257
Corresponding disease
HHF1 hyperinsulinemic hypoglycemia, familial, 1
HHF2 hyperinsulinemic hypoglycemia, familial, 2
NIDDM15 diabetes mellitus, non insulin-dependent, 15
PNDM3 permanent neonatal diabetes mellitus 3
Location 11p15.1      Physical location : 17.406.797 - 17.410.878
Synonym name ATP-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
  • Synonym symbol(s) BIR, JRKK, KIR6.2, PHHI, IKATP, HHF2, MGC133230, TNDM3
    DNA
    TYPE functioning gene
    STRUCTURE 4.08 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure upstream region contains an Alu repeat (over 900 bp of KCNJ11 5' sequence are required for similar high level expression, and deletion of the Alu repeat results in an increase in promoter activity) (Ashfield 1998)
    MAPPING cloned Y linked N status provisional
    Map pter - D11S1981 - D11S921 - KCNJ11 - D11S902 - D11S4138 - cen
    Physical map
    LOC390095 11 similar to Aldose reductase (AR) (Aldehyde reductase) SMAP 11p15.2 small acidic protein LOC283278 11p15.2 hypothetical protein LOC283278 LOC144100 11p15.2-p15.1 hypothetical protein LOC144100 LOC390096 11 similar to large subunit ribosomal protein L36a OR7E14P 11p15.1 olfactory receptor, family 7, subfamily E, member 14 pseudogene RPS13 11p15.1 ribosomal protein S13 PIK3C2A 11p15.1 phosphoinositide-3-kinase, class 2, alpha polypeptide LOC91561 11p15.1 similar to ribosomal protein S2; 40S ribosomal protein S2 NUCB2 11p15.1-p14 nucleobindin 2 DKFZp686O24166 11p15.1 hypothetical protein DKFZp686O24166 KCNJ11 11p15.1 potassium inwardly-rectifying channel, subfamily J, member 11 ABCC8 11p15.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 LOC387757 11 LOC387757 USH1C 11p14.3 Usher syndrome 1C (autosomal recessive, severe) FLJ21290 11p15.1 hypothetical protein FLJ21290 OTOG 11p14.3 otogelin KCNC1 11p15.3 potassium voltage-gated channel, Shaw-related subfamily, member 1 MYOD1 11p15.1 myogenic factor 3 DELGEF 11p14.3 myogenic factor 3 TPH1 11p15.1-p14.3 tryptophan hydroxylase 1 (tryptophan 5-monooxygenase) LOC113174 11p15.1 hypothetical protein BC012010 SAA3P 11p15.1-p14.3 serum amyloid A3 pseudogene MRGX3 11p15.1 G protein-coupled receptor MRGX3 MRGX4 11p15.1 G protein-coupled receptor MRGX4 SAA4 11p15.1-p14.3 serum amyloid A4, constitutive SAA2 11p15.1-p14.3 serum amyloid A2 FAM10A5 11p15.1 family with sequence similarity 10, member A5 SAA1 11p15.1-p14.3 serum amyloid A1 HPS5 11p14 Hermansky-Pudlak syndrome 5 GTF2H1 11p15.1-p14 general transcription factor IIH, polypeptide 1, 62kDa LDHA 11p15.1-p14.3 lactate dehydrogenase A LDHC 11p15.1-p14.3 lactate dehydrogenase C MGC23940 11p15.1 hypothetical protein MGC23940
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3418 43.39 390 - 1998
    9703328
    2 - 2763 - 303 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Endocrinepancreas    
     thyroid    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two membrane-spanning domains
  • an amphipatic region pore, including the P domain with the K+ channel signature
  • an ATP-binding regulatory domain
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies ortholog to KCNJ11, Pan troglodytes
    ortholog to Kcnj11, Rattus norvegicus
    ortholog to Kcnj11, Mus musculus
    ortholog to kcnj11, Danio rerio
    Homologene
    FAMILY
  • potassium channel subfamily J
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    basic FUNCTION
  • having inward rectifier potassium channel activity
  • inhibiting, by the binding to adenine nucleotides, which closes the channel, the ATP sensitive Katp channel
  • ATP-sensitive K(+) (K(ATP)) channels, comprised of pore-forming KCNJ11 and regulatory ABCC8 subunits, play a critical role in regulating insulin secretion
  • might play a significant role in beta cell survival in addition to its role in the regulation of insulin secretion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent with SUR1 of an ATP dependent potassium channel(Katp)
  • stoichiometric association in a complex of 4 (KCNJ11) (ABCC8)
  • component of ATP sensitive K+ channels
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • sulfonylurea receptor 2A, SUR2A
  • he two intracellular domains of Kir6.2 physically interact with each other
  • Kir 6.1 to produce functional channels
  • interacting with ANK2 (ANK2 has multiple roles in the active trafficking of KCNJ11 to the plasma membrane, as well as key roles in the retention and stabilization of KCNJ11 in relation to the plasma membrane and cytoskeleton)
  • SPTBN4–targeted CAMK2A directly phosphorylates the inwardly-rectifying potassium channel, KCNJ11
  • SPTBN4 is required for CAMK2D, ANK2, KCNJ11, and ABCC8 expression in beta cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHF2 , NIDDM15 , PNDM3 , HHF1
    Susceptibility to type 2 diabetes with weight gain and obesity
    Variant & Polymorphism other E23K polymorphism enhancing susceptibility to type 2 diabetes, and to gestational diabetes mellitus
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice expressing a dominant-negative form of the KATP channel subunit Kir6. 2 develop hypoglycemia with hyperinsulinemia in neonates and hyperglycemia with hypoinsulinemia and decreased beta cell population in adults
  • transgenic mice expressing beta cell K(ATP) channels with reduced ATP sensitivity develop severe hyperglycemia, hypoinsulinemia, and ketoacidosis and die within 5 days
  • mice lacking the Kir6.2 subunit of K(ATP) channels are susceptible to generalized seizures after brief hypoxia
  • mouse expressing a Kir6.2 mutation (V59M) specifically in pancreatic beta cells develop severe diabetes soon after birth and display a reduced percentage of beta cells with abnormal morphology and lower insulin content
  • mice carrying a human Kir6.2 mutation (Val59-->Met59) targeted to either muscle or nerve display motor impairments originate in the central nervous system rather than in muscle or peripheral nerves