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

KCNJ8 Gene

protein-coding   GIFtS: 66
GCID: GC12M021818

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

  See related diseases
at  

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

Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 81 2     KIR6.12
Inward Rectifier K(+) Channel Kir6.12 3     ATP-Sensitive Inward Rectifier Potassium Channel 82
Potassium Channel, Inwardly Rectifying Subfamily J Member 82 3     Inwardly Rectifying Potassium Channel KIR6.12
uKATP-12 3     

External Ids:    HGNC: 62691   Entrez Gene: 37642   Ensembl: ENSG000001213617   OMIM: 6009355   UniProtKB: Q158423   

Export aliases for KCNJ8 gene to outside databases

Previous GC identifers: GC12M022204 GC12M021920 GC12M021809 GC12M021692


(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 KCNJ8 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. Defects in this gene may be a cause of J-wave syndromes and sudden infant
death syndrome (SIDS). (provided by RefSeq, May 2012)

GeneCards Summary for KCNJ8 Gene: 
KCNJ8 (potassium inwardly-rectifying channel, subfamily J, member 8) is a protein-coding gene. Diseases associated with KCNJ8 include sudden infant death syndrome, and brugada syndrome, and among its related super-pathways are Activation of G protein gated Potassium channels and Transmission across Chemical Synapses. GO annotations related to this gene include inward rectifier potassium channel activity and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842
Function: This potassium channel 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 external barium (By similarity)

summary for KCNJ8 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 KCNJ8 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)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNJ8 gene promoter:
         HOXA9B   HOXA9   GR   ISGF-3   Olf-1   Gfi-1   PPAR-gamma2   GR-alpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ8 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNJ8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNJ8


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

Entrez Gene cytogenetic band: 12p11.23   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

KCNJ8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M021818:  view genomic region     (about GC identifiers)

Start:
21,917,889 bp from pter      End:
21,928,515 bp from pter
Size:
10,627 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842 (See protein sequence)
Recommended Name: ATP-sensitive inward rectifier potassium channel 8  
Size: 424 amino acids; 47968 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: O00657

Explore the universe of human proteins at neXtProt for KCNJ8: NX_Q15842

Explore proteomics data for KCNJ8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15842

  • KCNJ8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ8 Protein Expression
    REFSEQ proteins: NP_004973.1  
    ENSEMBL proteins: 
     ENSP00000240662   ENSP00000440012  
    Reactome Protein details: Q15842
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    Cloud-Clone Corp. Proteins for KCNJ8 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS7890693
    GO:0008282ATP-sensitive potassium channel complex IEA--
    GO:0016020membrane ----

    KCNJ8 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir6.1 
    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
     IPR003278 K_chnl_inward-rec_Kir6.1

    Graphical View of Domain Structure for InterPro Entry Q15842

    ProtoNet protein and cluster: Q15842

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003278 Kir6.1 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily


    KCNJ8 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: IRK8_HUMAN, Q15842
    Function: This potassium channel 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 external barium (By similarity)

         Genatlas biochemistry entry for KCNJ8:
    potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 8,involved in the regulation of
    membrane potential,preferentially expressed in the heart,component with SER2 of an ATP dependent potassium
    channel

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity TAS7890693
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0015272ATP-activated inward rectifier potassium channel activity IEA--
         
    KCNJ8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNJ8:
     Small cells 

         3 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Kcnj8):
     cardiovascular system  immune system  mortality/aging 

    KCNJ8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnj8tm1Sse for KCNJ8

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNJ8 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNJ8


    (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 KCNJ8 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.81
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Potassium Channels
    Potassium Channels0.43
    4SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    5Potassium transporters: inward current
    Potassium transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNJ8
        Potassium transporters- inward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNJ8
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for KCNJ8
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

    1 BioSystems Pathway for KCNJ8
        SIDS Susceptibility Pathways

    4        Reactome Pathways for KCNJ8
        ATP sensitive Potassium channels
    Potassium Channels
    Neuronal System
    Inwardly rectifying K+ channels

    1 PharmGKB Pathway for KCNJ8
        Antiarrhythmic Pathway, Pharmacodynamics


    KCNJ8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNJ8

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for KCNJ8 (Q158423 ENSP000002406624) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNJ2P632523, ENSP000002434574I2D: score=1 STRING: ENSP00000243457
    ABCC8Q094283, ENSP000003744674I2D: score=1 STRING: ENSP00000374467
    ABCC9O607063, ENSP000002612004I2D: score=1 STRING: ENSP00000261200
    KCNJ11ENSP000003457084STRING: ENSP00000345708
    --B2RC523I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IEA--
    GO:0006813potassium ion transport TAS7890693
    GO:0007268synaptic transmission TAS--
    GO:0007507heart development IEA--
    GO:0009268response to pH IEA--

    KCNJ8 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

    KCNJ8 for compounds           About GeneDecksing

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

    Compounds for KCNJ8 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 KCNJ8    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    5 DrugBank Compounds for KCNJ8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Gliquidone-- 33342-05-1targetinhibitor16174795 9015372 12670661
    Thiamylal-- 77-27-0targetinhibitor14739809 10754636 15852621
    Glisoxepide-- 25046-79-1targetinhibitor16174795 9015372
    Levosimendan-- 141505-33-1targetinducer17452812
    PhenforminBeta-Pebg (see all 17)114-86-3targetinhibitor20188727

    6 IUPHAR Ligands for KCNJ8 (Kir6.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    minoxidil
    ActivatorNone--
    nicorandil
    ActivatorNone--
    glibenclamide
    InhibitorNone--
    diazoxide
    ActivatorNone--
    tolbutamide
    InhibitorNone--
    cromakalim
    ActivatorNone--

    6 Novoseek inferred chemical compound relationships for KCNJ8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    katp 90.7 45 11749042 (4), 15380676 (3), 12015420 (3), 14729507 (2) (see all 26)
    sulfonylurea 86.8 13 14739809 (1), 15525587 (1), 19607836 (1), 10194514 (1) (see all 11)
    potassium 70 11 14739809 (1), 15525587 (1), 18708091 (1), 8595887 (1) (see all 8)
    glibenclamide 69.7 1 16478818 (1)
    diazoxide 69.2 2 16478818 (1), 8865068 (1)
    atp 41.3 17 9130167 (3), 9763630 (3), 18522960 (2), 18708091 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about KCNJ8 / IRK8

    (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,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for KCNJ8 gene: 
    NM_004982.3  

    Unigene Cluster for KCNJ8:

    Potassium inwardly-rectifying channel, subfamily J, member 8
    Hs.102308  [show with all ESTs]
    Unigene Representative Sequence: NM_004982
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000240662(uc001rff.3) ENST00000537950
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    Additional mRNA sequence: 

    AK291821.1 BC000544.2 D50312.1 

    3 DOTS entries:

    DT.310323  DT.100702360  DT.121210352 

    24/64 AceView cDNA sequences (see all 64):

    AL546327 BX115640 BQ003792 NM_004982 AA040299 D50312 CR605484 BM993933 
    AW015180 BC000544 CR593376 AI863541 CA435673 AI468279 BE465914 AW013831 
    AW027504 AA436184 BQ009215 BM906665 BX350117 AI624449 CA418967 BF514158 

    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

    KCNJ8 expression in normal human tissues (normalized intensities)      KCNJ8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGCAAGAT
    KCNJ8 Expression
    About this image


    KCNJ8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Pericytes Splanchnic Mesoderm
             PureStem ES-209, Meso-prx/latp Progenitor
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Epiphyseal End
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             atrial myocardium   
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Kidney (Urinary System)
             Metanephros

    See KCNJ8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ8

    SOURCE GeneReport for Unigene cluster: Hs.102308

    UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842
    Tissue specificity: Predominantly detected in fetal and adult heart

        SABiosciences Expression via Pathway-Focused PCR Array including KCNJ8: 
              Hypertension in human mouse rat

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    In Situ
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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 KCNJ8 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 Kcnj81 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 89.47(n)1
    98.35(a)1
      6 (74.31 cM)5
    165231  NM_008428.41  NP_032454.11 
     1425649395 
    chicken
    (Gallus gallus)
    Aves KCNJ81 potassium inwardly-rectifying channel, subfamily J, more 80.92(n)
    90.74(a)
      395973  XM_416431.2  XP_416431.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNJ86
    --
    Uncharacterized protein
    89(a)
    36(a)
    1 ↔ 1
    possible ortholog
    5(6455903-6462423)
    GL343354.1(282206-284445)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnj81 potassium inwardly-rectifying channel, subfamily J, more 71.44(n)
    80.83(a)
      561090  NM_001030153.1  NP_001025324.1 


    ENSEMBL Gene Tree for KCNJ8 (if available)
    TreeFam Gene Tree for KCNJ8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNJ8 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ12  KCNJ122  KCNJ152  KCNJ52  KCNJ62  
    KCNJ22  KCNJ102  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ8 using alignment to 2 protein entries:     IRK8_HUMAN (see all proteins):
    KCNJ11    KCNJ3    KCNJ5    KCNJ12    KCNJ18    KCNJ6
    KCNJ9    KCNJ1    kcnj12x    KCNJ4    KCNJ2    KCNJ14
    KCNJ16    KCNJ15    KCNJ10    KCNJ13

    KCNJ8 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

    10/204 SNPs in KCNJ8 are shown (see all 204)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0658794
    Sudden infant death syndrome (SIDS)4--see VAR_0658792 V I mis40--------
    rs710533441,2
    C--21788829(+) CCCCC-/CC/CCA
            
    GCCTC
    1 -- int11NA 2
    rs1483005811,2
    C--21917508(+) ACTAAA/TTATGC 1 -- ds50010--------
    rs1995782981,2
    C--21917649(-) TAAGCC/TTTTTT 1 -- ds50010--------
    rs1504377691,2
    --21917765(+) CAGACC/TTGAGA 1 -- ds50010--------
    rs1920001231,2
    --21917805(+) TTTGAC/TATCTC 1 -- ds50010--------
    rs72954201,2
    C,F,A,H--21918026(+) TTCCTT/CCAAAG 1 -- ut31 ese312Minor allele frequency- C:0.10NS EA WA NA CSA 1308
    rs1382585921,2
    C--21918046(+) CCAGCC/TCTGCC 1 -- ut310--------
    rs1841915141,2
    --21918055(+) CCCAAC/TAGGCC 1 -- ut310--------
    rs73097831,2
    C,F,H--21918185(+) TTATCA/TTGGAG 1 -- ut318Minor allele frequency- T:0.11NS EA WA CSA 544

    HapMap Linkage Disequilibrium report for KCNJ8 (21917889 - 21928515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KCNJ8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832349CNV Gain17160897


    Human Gene Mutation Database (HGMD): KCNJ8
    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: 600935    OMIM disorders: --

    UniProtKB/Swiss-Prot: IRK8_HUMAN, Q15842
  • Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart
    disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on
    electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG,
    marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a
    dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders
    are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial
    leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization
    pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia
  • Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1
    year that remains unexplained after a thorough case investigation, including performance of a complete autopsy,
    examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include
    respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism,
    but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 14 diseases for KCNJ8:    About MalaCards
    sudden infant death syndrome    brugada syndrome    leiomyoma    acute myocardial infarction
    hypoxia    myocardial infarction    spasticity    ischemia
    retinitis    hypertension    endotheliitis    pancreatitis
    neuronitis    prostatitis


    KCNJ8 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for KCNJ8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ischemia 13.7 1 20212266 (1)

    Genetic Association Database (GAD): KCNJ8
    Human Genome Epidemiology (HuGE) Navigator: KCNJ8 (2 documents)

    Export disorders for KCNJ8 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 KCNJ8 gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with KCNJ8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uKATP-1, gene (KCNJ8). (PubMed id 8595887)1, 2, 3, 9 Inagaki N.... Seino S. (1995)
    2. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. (PubMed id 20558321)1, 2, 4 Medeiros-Domingo A....Ackerman M.J. (2010)
    3. Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KC NJ8 and ABCC9. (PubMed id 19952277)1, 4, 9 Ellis J.A....Harrap S.B. (2010)
    4. Loss-of-function mutations in the KCNJ8-encoded Kir6.1 KATP channel and sudden infant death syndrome. (PubMed id 21836131)1, 2 Tester D.J....Ackerman M.J. (2011)
    5. 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)
    6. 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)
    7. Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel. (PubMed id 9573340)1, 2 Erginel-Unaltuna N....Blanar M.A. (1998)
    8. Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells. (PubMed id 12934053)1, 9 Insuk S.O....Lee S.W. (2003)
    9. Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium. (PubMed id 12356945)1, 9 Curley M....Smith T.J. (2002)
    10. Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels. (PubMed id 18663158)1, 9 Jiao J....Hu K. (2008)

    (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: 3764 HGNC: 6269 AceView: KCNJ8 Ensembl:ENSG00000121361 euGenes: HUgn3764
    ECgene: KCNJ8 H-InvDB: KCNJ8

    (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 KCNJ8 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 KCNJ8 gene:
    Search GeneIP for patents involving KCNJ8

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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