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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)
 Explore 18 diseases affiliated with
KCNJ6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KCNJ6    

Aliases
for KCNJ6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 61 2     KATP-22 3
GIRK21 2 3 5     Kir3.21
KCNJ71 2 3 5     Human G Protein Coupled Inward Rectifier Potassium Channel 2 (HiGIRK2)11
BIR11 2 3     KIR3.22
KATP21 2 3     G Protein-Activated Inward Rectifier Potassium Channel 22
HiGIRK21     Inward Rectifier Potassium Channel KIR3.22
Inward Rectifier K(+) Channel Kir3.22 3     Potassium Channel, Inwardly Rectifying Subfamily J Member 63
GIRK-22 3     

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


Summaries
for KCNJ6 gene

(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:
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)

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:
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


Genomic Views
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 69), 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_018932.1  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 plasmid: KCNJ6 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

Proteins
for KCNJ6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48051

    • KCNJ6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002231.1  
    ENSEMBL proteins: 
     ENSP00000383330   ENSP00000288309  
    Reactome Protein details: P48051
    Human Recombinant Protein Products: 
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    Uscn Proteins for KCNJ6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IDA16780588
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS7796919
    GO:0009986cell surface ----


    KCNJ6 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for KCNJ6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KCNJ6 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for KCNJ6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNJ6 (see all 15):
    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 plasmid: KCNJ6 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001965G-protein alpha-subunit binding ----
    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


    1 GenomeRNAi human phenotype for KCNJ6:
     Increased Salmonella enterica  

    Animal Models:
         Mouse knock-out Kcnj6tm1Stf for KCNJ6
         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


    Pathways & Interactions
    for KCNJ6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Inwardly rectifying K+ channels
    		Inwardly rectifying K+ channels1.00
    		G protein gated Potassium channels0.81
    		Activation of G protein gated Potassium channels0.81
    		Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.81
    2Activation of GABAB receptors
    		Activation of GABAB receptors1.00
    		GABA receptor activation0.72
    		GABA B receptor activation1.00
    3Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    		Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Potassium Channels
    		Potassium Channels1.00
    		Potassium transporters: outward current0.42
    5Synaptic transmission: ion currents
    		Synaptic transmission: ion currents1.00

    Pathway sources
    See GeneCards unified pathways
    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


    1         Kegg Pathway  (Kegg details for KCNJ6):
        Cholinergic 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): 3 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--
    GO:0051602response to electrical stimulus ----


    KCNJ6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KCNJ6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    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

    9 Novoseek 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
    Drug/compound PharmGKB Annotation
    AnalgesicsCA  
    About this table

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

    Transcripts
    for KCNJ6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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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    Inhib. RNA
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.441368  DT.91658441 

    15 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for KCNJ6 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAAAAGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KCNJ6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Ventral midbrain dopaminergic-like neurons (Differentiation of h...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
              Parkinson's Disease in human mouse rat
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Orthologs
    for KCNJ6 gene

    (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 animals.

    Orthologs for KCNJ6 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Ir3 inward rectifier potassium channel 50(a)
    (best of 2)    		   94E4   --
    worm
    (Caenorhabditis elegans)    		 Secernentea irk-13 inward rectifier potassium channel (IRK) 45(a)
    (best of 2)    		   X(6802509-6806908)   --


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

    Paralogs
    for KCNJ6 gene

    (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  KCNJ152  KCNJ122  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



    Genomic Variants
    for KCNJ6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5378 NCBI SNPs in KCNJ6 are shown (see all 5378)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs793123811,2
    		--24469757(+) AGTAAA/CAACAT 1 -- ds50010--------
    rs797021231,2
    		C,--24470138(+) TTTTTG/TCTTCT 1 -- ut310--------
    rs1175961441,2
    		C,F,--24470161(+) TATATA/GTCTAA 1 -- ut311Minor allele frequency- G:0.03NA 120
    rs72765731,2
    		C,F,H,--24470236(+) TGCTGG/AGTTTT 1 -- ut319Minor allele frequency- A:0.03NS EA NA WA 1210
    rs72816401,2
    		C,F,H,--24471214(+) AGGAGG/AAGTAC 1 -- int111Minor allele frequency- A:0.03NS EA NA WA 1310
    rs119094531,2
    		C,H,--24471808(+) gatggA/Ggtctc 1 -- int10--------
    rs72780611,2
    		C,F,H,--24472433(+) ggcccG/Atgaaa 1 -- int120Minor allele frequency- A:0.10NS EA NA WA 2364
    rs773597371,2
    		C,F,--24472661(+) TGTTAG/AGACCA 1 -- int11Minor allele frequency- A:0.07WA 118
    rs757940701,2
    		--24472668(+) ACCACC/TAATAA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs28358451,2
    		C,F,O,H,--24472940(+) AATGTT/CTCCCT 1 -- int118Minor allele frequency- C:0.06NA NS EA 2168

    HapMap Linkage Disequilibrium report for KCNJ6 (38996785 - 39246785 bp, first 250kb of KCNJ6)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for KCNJ6
         2 CNVs: 73633 103089
         1 Indel: 103088
    Human Gene Mutation Database (HGMD): KCNJ6

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    Disorders / Diseases
    for KCNJ6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KCNJ6 for disorders           About GeneDecksing

    OMIM gene information: 600877    OMIM disorders: --

    18 diseases for KCNJ6:    About MalaCards
    juvenile myoclonic epilepsy    thyroid hormone metabolism    weaver syndrome    generalized epilepsy
    intellectual disability    alcohol dependence    insulinoma    down syndrome
    epilepsy syndrome    parkinson's disease    breast cancer    thyroiditis
    pertussis    alcoholism    seizures    lung cancer
    pancreatitis    neuronitis

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

    3 Novoseek 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

    Publications
    for KCNJ6 gene

    (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 85):
    (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. 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)
    5. 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)
    6. 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)
    7. Co-expression of human Kir3 subunits can yield channels with different functional properties. (PubMed id 10659995)1, 2 Schoots O....Van Tol H.H.M. (1999)
    8. A KCNJ6 (Kir3.2, GIRK2) gene polymorphism modulates o pioid effects on analgesia and addiction but not on pupil size. (PubMed id 20220551)1, 9 LAPtsch J....Doehring A. (2010)
    9. Association between KCNJ6 (GIRK2) gene polymorphisms and postoperative analgesic requirements after major abdominal surgery. (PubMed id 19756153)1, 9 Nishizawa D....Ikeda K. (2009)
    10. Altered heart rate control in transgenic mice carrying the KCNJ6 gene of the human chromosome 21. (PubMed id 18303085)1, 9 Lignon J.M....Malecot C.O. (2008)

    External Searches for KCNJ6 gene

    (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)

    Genome Databases showing KCNJ6 gene

    (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

    Other Databases showing KCNJ6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KCNJ6 gene

    (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

    Intellectual Property
    for KCNJ6 gene

    (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

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