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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNJ11 Gene

protein-coding   GIFtS: 67
GCID: GC11M017406

Potassium Inwardly-Rectifying Channel, Subfamily J, Member...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 111 2     TNDM32 5
Inward Rectifier K(+) Channel Kir6.22 3     KIR6.22
Potassium Channel, Inwardly Rectifying Subfamily J Member 112 3     ATP-Sensitive Inward Rectifier Potassium Channel 112
IKATP2 3     Beta-Cell Inward Rectifier Subunit2
BIR2 5     Inwardly Rectifying Potassium Channel KIR6.22
HHF22 5     Potassium Channel Inwardly Rectifing Subfamily J Member 112
PHHI2 5     

External Ids:    HGNC: 62571   Entrez Gene: 37672   Ensembl: ENSG000001874867   OMIM: 6009375   UniProtKB: Q146543   

Export aliases for KCNJ11 gene to outside databases

Previous GC identifers: GC11M018547 GC11M018350 GC11M017446 GC11M017372 GC11M017371 GC11M017363 GC11M017090


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNJ11 Gene:
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, Oct 2009)

GeneCards Summary for KCNJ11 Gene: 
KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11) is a protein-coding gene. Diseases associated with KCNJ11 include diabetes mellitus, and neonatal diabetes mellitus, and among its related super-pathways are Type II diabetes mellitus and Voltage gated Potassium channels. GO annotations related to this gene include ion channel binding and protein C-terminus binding. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654
Function: This receptor is controlled by G proteins. 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). Subunit of
ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11
forms the channel pore while ABCC9 is required for activation and regulation

summary for KCNJ11 Gene:
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong
inward-rectifier channels (KIR2.x), the G-protein-activated inward-rectifier channels (KIR3.x) and the
ATP-sensitive channels (KIR6.x, which combine with sulphonylurea receptors (SUR)). Structurally, the
pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two
membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each
subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within
subfamilies, e.g. KIR3.2 with KIR3.3.

Gene Wiki entry for KCNJ11 (Kir6.2) Gene

PharmGKB "VIP" summary for KCNJ11


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ11 gene promoter:
         COMP1   HOXA5   HNF-4alpha2   NF-kappaB1   NF-kappaB   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ11 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNJ11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

KCNJ11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ11 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M017406:  view genomic region     (about GC identifiers)

Start:
17,406,795 bp from pter      End:
17,410,878 bp from pter
Size:
4,084 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654 (See protein sequence)
Recommended Name: ATP-sensitive inward rectifier potassium channel 11  
Size: 390 amino acids; 43541 Da
Subunit: Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAH40617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DWI4 E9PNK0 Q2M1H7 Q58EX3 Q8IW96
Alternative splicing: 2 isoforms:  Q14654-1   Q14654-2   

Explore the universe of human proteins at neXtProt for KCNJ11: NX_Q14654

Explore proteomics data for KCNJ11 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the
    ATP sensitivity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14654

  • KCNJ11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ11 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000516.3  NP_001159762.1  

    ENSEMBL proteins: 
     ENSP00000345708   ENSP00000434755   ENSP00000432729   ENSP00000436479  
    Reactome Protein details: Q14654
    Human Recombinant Protein Products for KCNJ11: 
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    Cloud-Clone Corp. Proteins for KCNJ11 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8923010
    GO:0008076voltage-gated potassium channel complex IDA--

    KCNJ11 for ontologies           About GeneDecksing



    KCNJ11 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KCN: Potassium channels
    KCNJ: Voltage-gated ion channels / Potassium channels, Inwardly rectifying

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir6.2 
    Inwardly rectifying potassium channels

    4 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir
     IPR003279 K_chnl_inward-rec_Kir6.2

    Graphical View of Domain Structure for InterPro Entry Q14654

    ProtoNet protein and cluster: Q14654

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003279 Kir6.2 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily


    KCNJ11 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRK11_HUMAN, Q14654
    Function: This receptor is controlled by G proteins. 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). Subunit of
    ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11
    forms the channel pore while ABCC9 is required for activation and regulation

         Genatlas biochemistry entry for KCNJ11:
    potassium non voltage-gated channel,weakly inwardly rectifying,member 11,component with SUR1 of an ATP dependent
    potassium channel,expressed in pancreatic islet,beta cell

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity ----
    GO:0005249voltage-gated potassium channel activity IDA19805355
    GO:0005515protein binding ----
    GO:0005524ATP binding ISS12860923
    GO:0008022protein C-terminus binding IEA--
         
    KCNJ11 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcnj11):
     adipose tissue  behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  mortality/aging  muscle  nervous system 
     no phenotypic analysis  pigmentation 

    KCNJ11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnj11tm1Sse for KCNJ11

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNJ11 
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    SwitchGear 3'UTR luciferase reporter plasmidKCNJ11 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ11


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNJ11 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    3Regulation of Insulin Secretion
    Regulation of Insulin Secretion0.74
    Integration of energy metabolism0.74
    4Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.81
    5Transmission across Chemical Synapses
    Neuronal System0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for KCNJ11
        Potassium transporters- inward current
    Potassium transporters- outward current
    Development Leptin signaling via PI3K-dependent pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ11
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for KCNJ11
        Development Leptin signaling via PI3K-dependent pathway

    2 BioSystems Pathways for KCNJ11
        Type II diabetes mellitus
    FOXA2 and FOXA3 transcription factor networks

    5/7        Reactome Pathways for KCNJ11 (see all 7)
        ATP sensitive Potassium channels
    Potassium Channels
    Metabolism
    Regulation of Insulin Secretion
    Integration of energy metabolism

    2 PharmGKB Pathways for KCNJ11
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for KCNJ11):
        Insulin secretion
    Type II diabetes mellitus


    KCNJ11 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/16 Interacting proteins for KCNJ11 (Q146543 ENSP000003457084) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCC8Q094283, ENSP000003744674I2D: score=1 STRING: ENSP00000374467
    ABCC9O607063, ENSP000002612004I2D: score=1 STRING: ENSP00000261200
    FOXA2ENSP000003159554STRING: ENSP00000315955
    PRKACGENSP000003664884STRING: ENSP00000366488
    KCNJ8ENSP000002406624STRING: ENSP00000240662
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006glucose metabolic process IMP15115830
    GO:0006112energy reserve metabolic process TAS--
    GO:0006813potassium ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0010107potassium ion import ISS--

    KCNJ11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNJ11 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNJ11 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LevcromakalimKir6 (KATP) channel opener. Active enantiomer of cromakalim (Cat. No. 1377)[94535-50-9]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    GlibenclamideKir6 (KATP) channel blocker[10238-21-8]
    P1075Potent Kir6 (KATP) channel opener[60559-98-0]
    Tertiapin-QSelective blocker of inward-rectifier K+ channels[252198-49-5]

    4 HMDB Compounds for KCNJ11    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PotassiumK+ (see all 16)7440-09-7--
    VerapamilAkilen (see all 107)52-53-9--

    7 DrugBank Compounds for KCNJ11    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Diazoxide-- 364-98-7targetinducer10604939 10581306 10518593 11808879 12770942
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetmodulator12213059 15082027 12359624 15294453 12145099
    GlimepirideGlimepirid (see all 4)93479-97-1targetinhibitor12703060 11325810 12086984
    Thiamylal-- 77-27-0targetinhibitor14739809 10754636 15852621
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor11752352 17409272 17038430
    IbutilideIbutilida [INN-Spanish] (see all 3)122647-32-9targetinhibitor15926871 9257085
    Levosimendan-- 141505-33-1targetinducer17452812

    6 IUPHAR Ligands for KCNJ11 (Kir6.2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    minoxidil
    ActivatorNone--
    nicorandil
    ActivatorNone--
    glibenclamide
    InhibitorNone--
    diazoxide
    ActivatorNone--
    tolbutamide
    InhibitorNone--
    cromakalim
    ActivatorNone--

    10/26 Novoseek inferred chemical compound relationships for KCNJ11 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    katp 95.3 230 9326676 (4), 15380676 (4), 14739809 (3), 10049691 (3) (see all 99)
    sulfonylurea 95.3 145 17213273 (4), 17047922 (4), 18548275 (3), 8607800 (3) (see all 99)
    potassium 84 151 8607800 (3), 10559219 (2), 9356020 (1), 9867219 (1) (see all 99)
    mgadp 82.1 11 11585851 (2), 10833411 (1), 9756869 (1), 18008114 (1) (see all 6)
    diazoxide 81.9 3 20164212 (1), 9756869 (1), 18596924 (1)
    glibenclamide 76.7 18 9458745 (2), 12145099 (2), 17659066 (2), 15678092 (2) (see all 11)
    tolbutamide 74.7 3 15562009 (1), 9032110 (1), 8897013 (1)
    atp 65.8 96 10545134 (4), 11585851 (4), 10049691 (3), 9763630 (3) (see all 53)
    repaglinide 65.7 9 15678092 (4), 18664331 (1), 11440368 (1)
    glucose 56.8 41 11145575 (5), 15579791 (3), 12351459 (2), 9032110 (2) (see all 21)

    4 PharmGKB related drug/compound annotations for KCNJ11 gene    About this table
    Drug/compound PharmGKB Annotation
    sulfonamides, urea derivativesCA  
    gliclazideCA  
    metforminCA  
    repaglinideCA  

    Search CenterWatch for drugs/clinical trials and news about KCNJ11 / IRK11

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for KCNJ11 gene (2 alternative transcripts): 
    NM_000525.3  NM_001166290.1  

    Unigene Cluster for KCNJ11:

    Potassium inwardly-rectifying channel, subfamily J, member 11
    Hs.248141  [show with all ESTs]
    Unigene Representative Sequence: NM_000525
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339994(uc001mna.3) ENST00000528731(uc001mnb.4) ENST00000526747
    ENST00000526912 ENST00000528992
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    Additional mRNA sequence: 

    AK301550.1 AK314943.1 BC040617.1 BC064497.1 BC112358.1 

    3 DOTS entries:

    DT.91981566  DT.100749583  DT.95194885 

    24 AceView cDNA sequences:

    BX281091 AA679741 NM_000525 AI377272 BM676395 BE019467 BG394461 BQ711583 
    CB112941 CA777857 BU738791 BC064497 BM480315 BC040617 BM713280 BM546966 
    CA778121 BQ917358 BE294700 AI792302 BE253084 BF842095 F21303 AI313045 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ11    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                          
    SP2:        -     -                           
    SP3:                                          


    ECgene alternative splicing isoforms for KCNJ11

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNJ11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAGGAAAC
    KCNJ11 Expression
    About this image


    See KCNJ11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ11

    SOURCE GeneReport for Unigene cluster: Hs.248141
        SABiosciences Expression via Pathway-Focused PCR Array including KCNJ11: 
              Neuronal Ion Channels in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KCNJ11 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj111 , 5 potassium inwardly rectifying channel, subfamily J, more1, 5 89.4(n)1
    95.9(a)1
      7 (29.66 cM)5
    165141  NM_010602.31  NP_034732.11 
     460987255 
    chicken
    (Gallus gallus)
    Aves KCNJ111 potassium inwardly-rectifying channel, subfamily J, more 80.72(n)
    85.19(a)
      428846  XM_426402.3  XP_426402.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ116
    --
    Uncharacterized protein
    80(a)
    37(a)
    1 ↔ 1
    possible ortholog
    1(66773690-66774871)
    GL343354.1(282206-284445)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnj111 potassium inwardly-rectifying channel, subfamily J, more 72.48(n)
    77.43(a)
      664687  NM_001039827.1  NP_001034916.1 


    ENSEMBL Gene Tree for KCNJ11 (if available)
    TreeFam Gene Tree for KCNJ11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNJ11 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ12  KCNJ122  KCNJ152  KCNJ52  
    KCNJ62  KCNJ22  KCNJ102  KCNJ142  KCNJ32  
    16 SIMAP similar genes for KCNJ11 using alignment to 6 protein entries:     IRK11_HUMAN (see all proteins):
    KCNJ8    KCNJ9    KCNJ12    KCNJ18    kcnj12x    KCNJ6
    KCNJ3    KCNJ5    KCNJ1    KCNJ2    KCNJ14    KCNJ10
    KCNJ4    KCNJ16    KCNJ15    KCNJ13

    KCNJ11 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/264 SNPs in KCNJ11 are shown (see all 264)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0265164
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0265162 Y C mis40--------
    VAR_0313474
    Familial hyperinsulinemic hypoglycemia 2 (HHF2)4--see VAR_0313472 R H mis40--------
    VAR_0265154
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0265152 E K mis40--------
    VAR_0313294
    Familial hyperinsulinemic hypoglycemia 2 (HHF2)4--see VAR_0313292 R H mis40--------
    VAR_0264994
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0264992 F V mis40--------
    VAR_0313444
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0313442 R L mis40--------
    VAR_0313354
    Familial hyperinsulinemic hypoglycemia 2 (HHF2)4--see VAR_0313352 F L mis40--------
    VAR_0313314
    Transient neonatal diabetes mellitus 3 (TNDM3)4--see VAR_0313312 C R mis40--------
    VAR_0313434
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0313432 K T mis40--------
    VAR_0265124
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0265122 R H mis40--------

    HapMap Linkage Disequilibrium report for KCNJ11 (17406795 - 17410878 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KCNJ11:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv467712CNV Loss19166990
    nsv897018CNV Loss21882294
    dgv59n21CNV Loss19592680
    nsv469895CNV Loss16826518
    nsv467713CNV Loss19166990
    nsv482158CNV Gain20164927


    Human Gene Mutation Database (HGMD): KCNJ11
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600937   
    OMIM disorders: 601820  606176  125853  610582  
    UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654
  • Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820]: Most common cause of persistent
    hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent
    episodes of hypoglycemia may occur. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from
    childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that
    is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]: Neonatal diabetes mellitus, defined as
    insulin-requiring hyperglycemia within the first month of life, is a rare entity. 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. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears
    later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or
    adult-onset diabetes described. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Note=Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as
    diabetes mellitus type 2

  • 20/50 diseases for KCNJ11 (see all 50):    About MalaCards
    diabetes mellitus    neonatal diabetes mellitus    hyperinsulinemic hypoglycemia    permanent neonatal diabetes mellitus
    familial hyperinsulinism    hyperinsulinism, focal    intermediate dend syndrome    kcnj11-related hyperinsulinism
    diabetes mellitus, permanent neonatal, with neurologic features    diabetes mellitus, kcnj11-related transient neonatal    diabetes mellitus, transient neonatal, 3    kcnj11-related permanent neonatal diabetes mellitus
    kcnj11-related susceptibility to noninsulin-dependent diabetes mellitus    hyperinsulinemic hypoglycemia familial 2    hyperinsulinism    hypoglycemia
    pancreatic agenesis    leucine-sensitive hypoglycemia of infancy    diabetes, type 2    diabetes, permanent neonatal

    6 diseases from the University of Copenhagen DISEASES database for KCNJ11:
    Diabetes mellitus     Hyperinsulinemic hypoglycemia     Hyperinsulinism     Hypoglycemia
    maturity-onset diabetes of the young     Hyperglycemia

    KCNJ11 for disorders           About GeneDecksing

    10/20 Novoseek inferred disease relationships for KCNJ11 gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neonatal diabetes mellitus 94.1 31 17491708 (2), 19169493 (2), 17659066 (2), 20220270 (2) (see all 18)
    hyperinsulinism 93.8 46 15579781 (2), 18767144 (2), 17451083 (2), 16332676 (2) (see all 25)
    hypoglycemia 80.7 17 16142506 (2), 10615958 (1), 19214942 (1), 10334322 (1) (see all 11)
    developmental delay 68.2 9 16670688 (2), 17047922 (2), 16375017 (1), 17890419 (1) (see all 7)
    hyperammonemia 53.8 1 17003566 (1)
    insulinoma 53.6 3 10928959 (1), 8549751 (1)
    niddm 48.4 28 9032110 (3), 9032109 (3), 8549873 (2), 11318841 (2) (see all 14)
    diabetes mellitus 39.9 8 17890419 (1), 11424233 (1), 18767144 (1), 8607800 (1) (see all 6)
    hyperinsulinemia 34.3 1 16416420 (1)
    epilepsy 30.8 7 16670688 (2), 16375017 (1), 16339180 (1), 17635943 (1) (see all 6)

    GeneTests: KCNJ11
    GeneReviews: KCNJ11
    Genetic Association Database (GAD): KCNJ11
    Human Genome Epidemiology (HuGE) Navigator: KCNJ11 (134 documents)

    Export disorders for KCNJ11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNJ11 gene, integrated from 9 sources (see all 528):
    (articles sorted by number of sources associating them with KCNJ11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variations in the human Kir6.2 gene, a subunit of the beta- cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro. (PubMed id 8897013)1, 2, 4, 9 Sakura H.... Ashcroft F.M. (1996)
    2. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (PubMed id 15115830)1, 2, 4, 9 Gloyn A.L....Hattersley A.T. (2004)
    3. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PubMed id 7502040)1, 2, 3, 9 Inagaki N.... Bryan J. (1995)
    4. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. (PubMed id 16609879)1, 2, 4 Flanagan S.E.... Hattersley A.T. (2006)
    5. Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population. (PubMed id 17257281)1, 4, 9 Koo B.K....Park K.S. (2007)
    6. A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. (PubMed id 16332676)1, 2, 9 Lin Y.-W.... Shyng S.-L. (2006)
    7. The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. (PubMed id 15784703)1, 2, 9 Yorifuji T.... Nakahata T. (2005)
    8. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. (PubMed id 8923010)1, 2, 9 Thomas P.... Lightner E. (1996)
    9. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. (PubMed id 17213273)1, 2, 9 Stanik J.... Klimes I. (2007)
    10. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. (PubMed id 16731833)1, 2, 9 Shimomura K....Ashcroft F.M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3767 HGNC: 6257 AceView: KCNJ11 Ensembl:ENSG00000187486 euGenes: HUgn3767
    ECgene: KCNJ11 Kegg: 3767 H-InvDB: KCNJ11

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNJ11 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ11

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNJ11 gene:
    Search GeneIP for patents involving KCNJ11

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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