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KCNJ11 Gene

protein-coding   GIFtS: 66

GC11M017090
potassium inwardly-rectifying channel, subfamily J, member 11
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
potassium inwardly-rectifying channel, subfamily J, member 111 2     Kir6.21
BIR1 2 5     inwardly rectifying potassium channel KIR6.22
Potassium channel, inwardly rectifying subfamily J member 112 3     ATP-sensitive inward rectifier potassium channel 112
Inward rectifier K(+) channel Kir6.22 3     potassium channel inwardly rectifing subfamily J member 112
IKATP2 3     beta-cell inward rectifier subunit2
TNDM32 5     KIR6.22
HHF22 5     MGC1332302
PHHI2 5     

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

Export aliases for KCNJ11 gene to outside databases

Previous GC identifers: GC11M018547 GC11M018350 GC11M017446 GC11M017372 GC11M017371 GC11M017363


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

Entrez Gene summary for KCNJ11:
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)

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)

summary for KCNJ11:
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)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ11 gene promoter:
         NF-kappaB1   HNF-4alpha2   COUP-TF1   NF-kappaB   GR-alpha   MEF-2A   Oct-B1   oct-B2   oct-B3   POU2F1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for KCNJ11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M017090:  view genomic region     (about GC identifiers)

Start:
17,090,617 bp from pter
End:
17,094,700 bp from pter
Size:
4,084 bases
Orientation:
minus strand

1 alternative location:
Chr11- 17,406,798-17,410,206     
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q2M1H7 Q58EX3

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_000516.3  NP_001159762.1  


    ENSEMBL proteins: 
    ENSP00000345708 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for KCNJ11 
    Novus Biologicals Proteins for KCNJ11
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IEA--
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005792 microsome IEA--
    GO:0005886 plasma membrane TAS--
    GO:0005887 integral to plasma membrane TAS8923010
    About this table

    KCNJ11 for ontologies           About GeneDecksing



    Antibodies for KCNJ11: 
    Millipore Mono- and Polyclonal Antibodies for the study of KCNJ11
    Sigma-Aldrich Antibodies for KCNJ11
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 2): KCNJ11
    GenScript Custom Superior Antibodies Services for KCNJ11 
    Novus Biologicals Antibodies for KCNJ11
    Browse antibodies at Epitomics

    Assays for KCNJ11: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KCNJ11 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for KCNJ11 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KCNJ11 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013521 K_chnl_inward-rec_Kir_Cr2
     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 families:
    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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)

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for KCNJ11
    Sigma-Aldrich shRNA Panels and shRNA for KCNJ11
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): KCNJ11
    OriGene shRNA RFP (see all 2): KCNJ11
    OriGene basic RS shRNA (see all 2): KCNJ11
    OriGene siRNA (see all 2): KCNJ11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of KCNJ11 
    miRNA:Sigma-Aldrich microRNA Mimics for KCNJ11
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of KCNJ11 
    8/11 SABiosciences Assays for microRNAs that regulate KCNJ11 (see all 11):
    hsa-miR-98 hsa-miR-485-5p hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e hsa-miR-370

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): KCNJ11
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): KCNJ11
    OriGene untagged cDNA clones in CMV expression vector: KCNJ11
    OriGene 3'-UTR clone (see all 2): KCNJ11 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: KCNJ11 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for KCNJ11 

    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

    5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005524 ATP binding ISS12860923
    GO:0008022 protein C-terminus binding IEA--
    GO:0015272 ATP-activated inward rectifier potassium channel activity ISS--
    GO:0030955 potassium ion binding TAS8923010
    About this table

    KCNJ11 for ontologies           About GeneDecksing

    Animal Models: 5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kcnj11):

    cardiovascular systemendocrine/exocrine glandhomeostasis/metabolismnervous systemno phenotypic analysis

    KCNJ11 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    KCNJ11 for pathways           About GeneDecksing

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

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  KCNJ11
        Type II Diabetes Mellitus Signaling

    1 Kegg Pathway  (Kegg details for KCNJ11):
        hsa04930 Type II diabetes mellitus

        SABiosciences Pathway-Focused PCR Array including KCNJ11: PAHS-036A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for KCNJ11
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ11

    5/9 Interacting proteins for KCNJ11 (ENSP000003457083) via UniProtKB, MINT, and/or STRING (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCC8ENSP000003039603STRING: ENSP00000303960
    FOXA2ENSP000003663193STRING: ENSP00000366319
    KCNJ8ENSP000002406623STRING: ENSP00000240662
    CACNA1AENSP000003533623STRING: ENSP00000353362
    CACNA1BENSP000002775493STRING: ENSP00000277549
    About this table

    5/12 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 12):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006006 glucose metabolic process IMP15115830
    GO:0006112 energy reserve metabolic process TAS--
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport IEA--
    GO:0010107 potassium ion import ISS--
    About this table

    KCNJ11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    KCNJ11 for compounds           About GeneDecksing

    Sigma-Aldrich Small Molecules for KCNJ11:
    Small Molecule - Antagonist
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNJ11 available from Tocris Bioscience
    CompoundAction CAS number
    RepaglinideKATP channel blocker[135062-02-1]
    DiazoxideBlocks desensitization of AMPA receptors[364-98-7]
    Y-27152Prodrug of KATP channel opener Y-26763; orally active in vivo[127408-30-4]
    ZM 226600KATP channel opener[147695-92-9]
    PNU 37883 hydrochlorideVascular KATP channel blocker[57568-80-6]
    About this table


    10/26 Novoseek chemical compound relationships for KCNJ11 gene (see all 26)
    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)
    About this table

    2 PharmGKB drug compound relationships for KCNJ11 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    antiarrhythmicsFA  7502040
    diazoxideFA  7502040
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for KCNJ11
    Sigma-Aldrich shRNA Panels and shRNA for KCNJ11
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): KCNJ11
    OriGene shRNA RFP (see all 2): KCNJ11
    OriGene basic RS shRNA (see all 2): KCNJ11
    OriGene siRNA (see all 2): KCNJ11
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of KCNJ11 
    miRNA: Sigma-Aldrich microRNA Mimics for KCNJ11
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of KCNJ11 
    8/11 SABiosciences Assays for microRNAs that regulate KCNJ11 (see all 11):
    hsa-miR-98 hsa-miR-485-5p hsa-let-7d hsa-let-7c hsa-let-7i hsa-let-7g hsa-let-7e hsa-miR-370
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): KCNJ11
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): KCNJ11
    OriGene untagged cDNA clones in CMV expression vector: KCNJ11
    OriGene 3'-UTR Clone (see all 2): KCNJ11 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: KCNJ11 
    Primers: OriGene genome-wide validated SYBR primer pairs: KCNJ11
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for KCNJ11: PPH01409A

    REFSEQ mRNAs for KCNJ11 gene (2 alternative transcripts): 

    NM_000525.3  NM_001166290.1  

    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.91981566  DT.100749583  DT.95194885 

    24 AceView cDNA sequences:

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

    highest scoring ESTs for KCNJ11:

    AI792302 BC064497 BE019467 BE159475 BE253084 BE294700 BF842095 BG394461 BM480315 BX281091 

    Unigene Cluster for KCNJ11:

    Potassium inwardly-rectifying channel, subfamily J, member 11
    Hs.248141  [show with all ESTs]
    Unigene Representative Sequence: NM_000525


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for KCNJ11
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000339994(uc001mna.2 uc001mnb.3)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    KCNJ11 expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching KCNJ11 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    67681_at2, 3 U95-D 1 0.75 1.00 1.00 1.00 AI377272 0.60 1.00 0.82 1
    231740_at2, 3 U133-B 1 0.91 1.00 -- -- NM_000525 0.60 1.00 0.82 1
    231740_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    KCNJ11 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    KCNJ11 gene expression
    KCNJ11 gene electronic northern expression
    KCNJ11 gene sage expression
    About these images

    CGAP SAGE TAG: CTGAGGAAAC

    SOURCE GeneReport for Unigene cluster: Hs.248141
    Primers: OriGene genome-wide validated SYBR primer pairs: KCNJ11
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for KCNJ11: PPH01409A
        SABiosciences Expression via Pathway-Focused PCR Array including KCNJ11: PAHS-036A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for KCNJ11 gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNJ111   -- potassium inwardly-rectifying channel, subfamily J, more 91.54(n)
    96.92(a)
    485401  XM_542519.2  XP_542519.1 
    chimpanzee
    (Pan troglodytes)
    KCNJ111   -- potassium inwardly-rectifying channel, subfamily J, more 98.97(n)
    98.97(a)
    466450  XM_521849.2  XP_521849.2 
    cow
    (Bos taurus)
    KCNJ111   -- potassium inwardly-rectifying channel, subfamily J, more 91.49(n)
    95.1(a)
    532060  XM_610569.3  XP_610569.3 
    rat
    (Rattus norvegicus)
    Kcnj111   -- potassium inwardly rectifying channel, subfamily J, more 88.55(n)
    96.15(a)
    83535  NM_031358.3  NP_112648.2 
    mouse
    (Mus musculus)
    Kcnj111 , 5 7 (29.66 cM)5
    potassium inwardly rectifying channel, subfamily J, more1, 5 89.4(n)1
    95.9(a)1
    165141  NM_010602.21  NP_034732.11 
     AF0373135  AI8427225  (see all 13)
    About this table        Species with no ortholog for KCNJ11

    ENSEMBL Gene Tree for KCNJ11 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for KCNJ11 gene
    KCNJ102  KCNJ162  KCNJ12  KCNJ82  KCNJ152  KCNJ132  

    KCNJ11 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/129 NCBI SNPs in KCNJ11 are shown (see all 129)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs52051,2
    F17407477(+) TCCAAG/AGGTCC 2 -- ut312Minor allele frequency- A:0.02MN 264
    rs52061,2
    F17407618(+) CAAAGT/CGAGTG 2 -- ut311Minor allele frequency- C:0.05MN 80
    rs52071,2
    F17407765(+) CTCACT/AGCACG 2 -- ut311Minor allele frequency- A:0.10MN 68
    rs52081,2
    C,F,17408090(+) CAGACG/ACAAAG 2 -- ut312Minor allele frequency- A:0.06MN WA 82
    rs52091,2
    C,F,17408178(+) CTGGAC/TGCACA 2 -- ut311Minor allele frequency- T:0.05MN 80
    rs52101,2
    C,A,17408251(+) GTCCTG/AAATTG 2 -- ut3115Minor allele frequency- A:0.44MN EU NA EA WA 1955
    rs52111,2
    F17408294(+) TACAGG/TTTCCT 2 -- ut311Minor allele frequency- T:0.05MN 80
    rs52121,2
    C,F,17408374(+) GCTGAG/AGCTGG 2 -- ut312Minor allele frequency- A:0.06MN WA 82
    rs52131,2
    C,A,17408404(+) CTGGCT/CGGGCT 2 -- ut3111Minor allele frequency- C:0.27MN NA EA WA 808
    rs52141,2
    C,F,17408550(+) CGGGCT/CGAGGC 4 /S ref1 syn1 ese32Minor allele frequency- C:0.02MN 264
    About this table

    HapMap Linkage Disequilibrium images for KCNJ11 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for KCNJ11
         7 CNVs: 48756 2165 48754 48755 48757 48753 48752

    QIAGEN SeqTarget long-range PCR primers for resequencing KCNJ11 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KCNJ11 for disorders           About GeneDecksing

    OMIM: 600937   disorders: 601820  606176  125853  610582  

    UniProtKB/Swiss-Prot: IRK11_HUMAN, Q14654

  • Defects in KCNJ11 are the cause of familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]; also
  • known as persistent hyperinsulinemic hypoglycemia of infancy (PPHI) or congenital hyperinsulinism. HHF is the most
    common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin
    secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is
    extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain
    damage from recurrent episodes of hypoglycemia may occur
  • Defects in KCNJ11 are a cause of diabetes mellitus permanent neonatal (PNDM) [MIM:606176]. PNDM is 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
  • Defects in KCNJ11 are the cause of transient neonatal diabetes mellitus type 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
  • Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes
  • mellitus type 2

    10/20 Novoseek disease relationships for KCNJ11 gene (see all 20)

    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)
    About this table

    GeneTests: KCNJ11
    Familial Hyperinsulinism

    Human Gene Mutation Database (HGMD): KCNJ11
    Genetic Association Database (GAD): KCNJ11
    Human Genome Epidemiology (HuGE) Navigator: KCNJ11 (122 documents)

    Export disorders and mutations for KCNJ11 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/458 PubMed articles for KCNJ11 gene, integrated from 7 sources (see all 458):
    (articles sorted by number of sources associating them with KCNJ11)
    1. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. (PubMed id 7502040)1, 2, 3, 5, 7 Inagaki N.... Bryan J. (1995)
    2. 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, 7 Sakura H.... Ashcroft F.M. (1996)
    3. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (PubMed id 15115830)1, 2, 4, 7 Gloyn A.L....Hattersley A.T. (2004)
    4. 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, 7 Lin Y.-W.... Shyng S.-L. (2006)
    5. 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, 7 Yorifuji T.... Nakahata T. (2005)
    6. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. (PubMed id 8923010)1, 2, 7 Thomas P.... Lightner E. (1996)
    7. 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, 7 Stanik J.... Klimes I. (2007)
    8. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. (PubMed id 16731833)1, 2, 7 Shimomura K....Ashcroft F.M. (2006)
    9. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. (PubMed id 15580558)1, 2, 7 Massa O.... Barbetti F. (2005)
    10. Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study. (PubMed id 15579791)1, 4, 7 Laukkanen O....Laakso M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ11

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