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

KCNJ6 Gene

protein-coding   GIFtS: 67
GCID: GC21M038996

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


(Previous symbol: KCNJ7)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 61 2     KATP22 3
KCNJ71 2 3 5     Human G Protein Coupled Inward Rectifier Potassium Channel 2 (HiGIRK2)11
GIRK22 3 5     KIR3.22
Inward Rectifier K(+) Channel Kir3.22 3     G Protein-Activated Inward Rectifier Potassium Channel 22
BIR12 3     hiGIRK22
GIRK-22 3     Inward Rectifier Potassium Channel KIR3.22
KATP-22 3     Potassium Channel, Inwardly Rectifying Subfamily J Member 63

External Ids:    HGNC: 62671   Entrez Gene: 37632   Ensembl: ENSG000001575427   OMIM: 6008775   UniProtKB: P480513   

Export aliases for KCNJ6 gene to outside databases

Previous GC identifers: GC21M035574 GC21M037917 GC21M037918 GC21M024470


(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 KCNJ6 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 may be involved in the regulation of insulin secretion by glucose. It
associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex.
(provided by RefSeq, Jul 2008)

GeneCards Summary for KCNJ6 Gene: 
KCNJ6 (potassium inwardly-rectifying channel, subfamily J, member 6) is a protein-coding gene. Diseases associated with KCNJ6 include weaver syndrome, and epilepsy syndrome, and among its related super-pathways are Voltage gated Potassium channels and Circadian entrainment. GO annotations related to this gene include G-protein activated inward rectifier potassium channel activity and inward rectifier potassium channel activity. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK6_HUMAN, P48051
Function: This potassium channel may be involved in the regulation of insulin secretion by glucose and/or
neurotransmitters acting through G-protein-coupled receptors. 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

summary for KCNJ6 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 KCNJ6 Gene


(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ6 gene promoter:
         NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ6 promoter sequence

   Search SABiosciences Chromatin IP Primers for KCNJ6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ6


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

Entrez Gene cytogenetic band: 21q22.1   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.1
Nature(405: 311-319) cytogenetic band:   21q22.2
KCNJ6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ6 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M038996:   GeneLoc Nature:405,311-319
Start:
38,996,785 bp from pter       24,573,396 bp from centromere
End:
39,288,749 bp from pter 24,864,896 bp from centromere
Size:
291,965 bases 291,501 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: U24660
genomic clones: c10C6 to pS611


(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: IRK6_HUMAN, P48051 (See protein sequence)
Recommended Name: G protein-activated inward rectifier potassium channel 2  
Size: 423 amino acids; 48451 Da
Subunit: Associates with GIRK1 or GIRK4 to form a G-protein-activated heteromultimer pore-forming unit. The
resulting inward current is much larger. Interacts (via PDZ-binding motif) with SNX27 (via PDZ domain); the
interaction is required when endocytosed to prevent degradation in lysosomes and promote recycling to the plasma
membrane (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q3MJ74 Q53WW6

Explore the universe of human proteins at neXtProt for KCNJ6: NX_P48051

Explore proteomics data for KCNJ6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48051

  • KCNJ6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ6 Protein Expression
    REFSEQ proteins: NP_002231.1  
    ENSEMBL proteins: 
     ENSP00000383330   ENSP00000288309  
    Reactome Protein details: P48051
    Human Recombinant Protein Products for KCNJ6: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCNJ6 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA16780588
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS7796919
    GO:0016021integral to membrane ----

    KCNJ6 for ontologies           About GeneDecksing



    KCNJ6 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: Kir3.2 
    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
     IPR003275 K_chnl_inward-rec_Kir3.2

    Graphical View of Domain Structure for InterPro Entry P48051

    ProtoNet protein and cluster: P48051

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003275 Kir3.2 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK6_HUMAN, P48051
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily


    KCNJ6 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: IRK6_HUMAN, P48051
    Function: This potassium channel may be involved in the regulation of insulin secretion by glucose and/or
    neurotransmitters acting through G-protein-coupled receptors. 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

         Genatlas biochemistry entry for KCNJ6:
    potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 6,Kir3.2,ATP-regulated,coexpressed with
    SUR (see symbol) in pancreatic islet,beta cell,unlikely to be involved in juvenile myoclonic epilepsy

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity TAS7796919
    GO:0005515protein binding IPI12297500
    GO:0015467G-protein activated inward rectifier potassium channel activity IEA--
         
    KCNJ6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNJ6:
     Increased Salmonella enterica  

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnj6):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  reproductive system 

    KCNJ6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnj6tm1Stf for KCNJ6

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNJ6 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNJ6 
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    miRNA
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    hsa-miR-323-3p hsa-miR-3910 hsa-miR-576-5p hsa-miR-4263 hsa-miR-3935 hsa-let-7a-2* hsa-miR-3927 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidKCNJ6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ6


    (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 KCNJ6 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    2Circadian entrainment
    GABAergic synapse0.53
    Dopaminergic synapse0.37
    Morphine addiction0.53
    Cholinergic synapse0.37
    Retrograde endocannabinoid signaling0.51
    Serotonergic synapse0.33
    Circadian entrainment0.40
    3Inwardly rectifying K+ channels
    G protein gated Potassium channels0.81
    Activation of G protein gated Potassium channels0.81
    Inwardly rectifying K+ channels0.81
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.81
    4Activation of GABAB receptors
    Activation of GABAB receptors0.72
    GABA B receptor activation0.72
    GABA receptor activation0.72
    5Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for KCNJ6
        Potassium transporters- inward current
    Synaptic transmission- ion currents
    Potassium transporters- outward current

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNJ6
        G-Beta Gamma Signaling
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    5/11        Reactome Pathways for KCNJ6 (see all 11)
        Transmission across Chemical Synapses
    G protein gated Potassium channels
    Neuronal System
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
    Inwardly rectifying K+ channels


    5/8         Kegg Pathways  (Kegg details for KCNJ6) (see all 8):
        Circadian entrainment
    Retrograde endocannabinoid signaling
    Cholinergic synapse
    Serotonergic synapse
    GABAergic synapse


    KCNJ6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNJ6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/27 Interacting proteins for KCNJ6 (P480513 ENSP000003833304) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG1Q129593, ENSP000003457314I2D: score=2 STRING: ENSP00000345731
    KCNJ9Q928063, ENSP000003570674I2D: score=2 STRING: ENSP00000357067
    ADRB2P075503, ENSP000003053724I2D: score=1 STRING: ENSP00000305372
    KCNJ3P485493, ENSP000002951014I2D: score=1 STRING: ENSP00000295101
    DRD2P144163, ENSP000003548594I2D: score=2 STRING: ENSP00000354859
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS7796919
    GO:0007268synaptic transmission TAS--

    KCNJ6 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

    KCNJ6 for compounds           About GeneDecksing

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

    Compounds for KCNJ6 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]

    1 HMDB Compound for KCNJ6    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for KCNJ6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetinhibitor15175324 16243998

    3 IUPHAR Ligands for KCNJ6 (Kir3.2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    SCH-23390
    Gating inhibitorAntagonist4.08 - 5.1112065762
    Na+
    ActivatorAgonist1.610085101
    PIP2
    ActivatorNone1.6--

    9 Novoseek inferred chemical compound relationships for KCNJ6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 62.7 19 15779084 (1), 15872020 (1), 19756153 (1), 16708025 (1) (see all 12)
    pip2 50.8 1 10545132 (1)
    katp 42.4 2 9763630 (1), 7592809 (1)
    dopamine 27 3 15872020 (1), 20106970 (1)
    clozapine 25.8 1 10780978 (1)
    nmda 23.3 1 19118198 (1)
    aspartate 6.62 3 10545132 (1), 10085101 (1)
    atp 0 1 9763630 (1)
    tyrosine 0 1 15872020 (1)

    1 PharmGKB related drug/compound annotation for KCNJ6 gene    About this table
    Drug/compound PharmGKB Annotation
    AnalgesicsCA  

    Search CenterWatch for drugs/clinical trials and news about KCNJ6 / IRK6

    (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 KCNJ6 gene: 
    NM_002240.3  

    Unigene Cluster for KCNJ6:

    Potassium inwardly-rectifying channel, subfamily J, member 6
    Hs.658533  [show with all ESTs]
    Unigene Representative Sequence: NM_002240
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400482(uc011aej.1 uc002ywo.2) ENST00000288309

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    Additional mRNA sequence: 

    AK313997.1 BC101547.1 D87327.1 U24660.1 

    2 DOTS entries:

    DT.441368  DT.91658441 

    15 AceView cDNA sequences:

    BF110130 D87327 AW015013 U24660 NM_002240 CK819626 BM129387 CK819627 
    BG253799 BM129158 BM129673 U52153 L78480 U81225 AJ001894 

    GeneLoc Exon Structure


    (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

    KCNJ6 expression in normal human tissues (normalized intensities)      KCNJ6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAAAAGTA
    KCNJ6 Expression
    About this image


    KCNJ6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor

    See KCNJ6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ6

    SOURCE GeneReport for Unigene cluster: Hs.658533

    UniProtKB/Swiss-Prot: IRK6_HUMAN, P48051
    Tissue specificity: Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including KCNJ6: 
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              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 KCNJ6 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 Kcnj61 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 90.23(n)1
    99.29(a)1
      16 (55.44 cM)5
    165221  NM_010606.21  NP_034736.21 
     947492665 
    chicken
    (Gallus gallus)
    Aves KCNJ61 potassium inwardly-rectifying channel, subfamily J, more 83.09(n)
    92.51(a)
      427983  XM_425553.3  XP_425553.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ66
    Uncharacterized protein
    89(a)
    1 ↔ 1
    3(140658588-140678260)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnj61 potassium inwardly-rectifying channel, subfamily J, more 75.73(n)
    85.29(a)
      569498  XM_692892.4  XP_697984.4 


    ENSEMBL Gene Tree for KCNJ6 (if available)
    TreeFam Gene Tree for KCNJ6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNJ6 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ12  KCNJ122  KCNJ152  KCNJ52  
    KCNJ22  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ6 using alignment to 1 protein entry:     IRK6_HUMAN:
    KCNJ5    KCNJ9    KCNJ3    KCNJ2    KCNJ12    KCNJ18
    kcnj12x    KCNJ11    KCNJ1    KCNJ15    KCNJ4    KCNJ8
    KCNJ16    KCNJ10    KCNJ14    KCNJ13

    KCNJ6 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

    10/6245 SNPs in KCNJ6 are shown (see all 6245)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107156291,2
    C--24491563(+) TCACT-/TCTTCG 1 -- int11Minor allele frequency- T:0.00NA 2
    rs3681419621,2
    C--24491568(+) TCTTC-/GGACTT 1 -- int10--------
    rs562196561,2
    C--24508439(+) TTTTG-/GATTTG 1 -- int11Minor allele frequency- G:0.00NA 2
    rs105945121,2
    C--24510412(+) TTTTT-/TTT   
       
    /TTTT
    GAGAT
    2 -- int1 cds11NA 2
    rs1114805171,2
    C--24511349(+) TGTAGG/CCGAGC 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs345402911,2
    C--24525418(+) CCAGT-/GGAAGT 1 -- int12Minor allele frequency- G:0.00NA CSA 4
    rs58438471,2
    C--24525888(+) TCAAC-/TATATTA 1 -- int10--------
    rs58438491,2
    C--24527498(+) AGAGG-/AA    
       G
    /AGA
    AGTAG
    2 -- cds1 trp31CSA 2
    rs113565971,2
    C--24528262(+) CCTTC-/TTCTGT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs347821891,2
    C--24536656(+) AATAT-/GCTATG 1 -- int10--------

    HapMap Linkage Disequilibrium report for KCNJ6 (38996785 - 39246785 bp, first 250kb of KCNJ6)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for KCNJ6 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723408CNV Deletion23290073
    esv2723404CNV Deletion23290073
    esv1930202CNV Deletion18987734
    esv2723410CNV Deletion23290073
    esv2723403CNV Deletion23290073
    esv2723402CNV Deletion23290073
    esv1008565CNV Deletion20482838
    esv2723405CNV Deletion23290073
    esv2723400CNV Deletion23290073
    esv2650741CNV Deletion19546169


    Human Gene Mutation Database (HGMD): KCNJ6
    SABiosciences Cancer Mutation PCR Assays
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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: 600877    OMIM disorders: --

    17 diseases for KCNJ6:    About MalaCards
    weaver syndrome    epilepsy syndrome    juvenile myoclonic epilepsy    nicotine dependence
    insulinoma    alcohol dependence    intellectual disability    hyperparathyroidism
    down syndrome    pertussis    alcoholism    parkinson's disease
    thyroiditis    breast cancer    lung cancer    pancreatitis
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for KCNJ6:
    Down syndrome

    KCNJ6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for KCNJ6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulinoma 47.9 2 7729621 (1), 7601286 (1)
    niddm 6.32 6 7729621 (3), 8777994 (2)
    breast cancer 0 1 15603589 (1)

    Genetic Association Database (GAD): KCNJ6
    Human Genome Epidemiology (HuGE) Navigator: KCNJ6 (8 documents)

    Export disorders for KCNJ6 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 KCNJ6 gene, integrated from 9 sources (see all 92):
    (articles sorted by number of sources associating them with KCNJ6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and variation of a human inwardly-rectifying-K- channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit. (PubMed id 7796919)1, 2, 3 Sakura H.... Ashcroft F.M. (1995)
    2. Pancreatic islet cells express a family of inwardly rectifying K+ channel subunits which interact to form G-protein-activated channels. (PubMed id 7592809)1, 2, 9 Ferrer J.... Permutt A. (1995)
    3. Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM. (PubMed id 7729621)1, 2, 9 Tsaur M.-L.... Stoffel M. (1995)
    4. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Genetic utility of broadly defined bipolar schizoaffe ctive disorder as a diagnostic concept. (PubMed id 19567891)1, 4 Hamshere M.L....McGuffin P. (2009)
    7. Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. (PubMed id 17135278)1, 4 Saccone S.F....Bierut L.J. (2007)
    8. International Union of Pharmacology. LIV. Nomenclatur e and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)1, 3 Kubo Y....Vandenberg C.A. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. (PubMed id 12458027)1, 4 Chioza B....Makoff A.J. (2002)

    (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: 3763 HGNC: 6267 AceView: KCNJ6 Ensembl:ENSG00000157542 euGenes: HUgn3763
    ECgene: KCNJ6 Kegg: 3763 H-InvDB: KCNJ6

    (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 KCNJ6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNJ6 gene:
    Search GeneIP for patents involving KCNJ6

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



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    About This Section

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