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KCNJ10 Gene

protein-coding   GIFtS: 63
GCID: GC01M160007

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

  See KCNJ10-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)
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Aliases
Potassium Inwardly-Rectifying Channel, Subfamily J, Member 101 2     KCNJ13-PEN2
Inward Rectifier K(+) Channel Kir1.22 3     KIR1.22
Potassium Channel, Inwardly Rectifying Subfamily J Member 102 3     KIR4.12
ATP-Dependent Inwardly Rectifying Potassium Channel Kir4.12 3     ATP-Sensitive Inward Rectifier Potassium Channel 102
SESAME2 5     Glial ATP-Dependent Inwardly Rectifying Potassium Channel KIR4.12
BIRK-102     Inward Rectifier K+ Channel KIR1.22

External Ids:    HGNC: 62561   Entrez Gene: 37662   Ensembl: ENSG000001778077   OMIM: 6022085   UniProtKB: P785083   

Export aliases for KCNJ10 gene to outside databases

Previous GC identifers: GC01M157802 GC01M155740 GC01M156785 GC01M157224 GC01M156821 GC01M158273 GC01M131363


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNJ10 Gene:
This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a
greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a
heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of
glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common
idiopathic generalized epilepsy syndromes. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNJ10 Gene:
KCNJ10 (potassium inwardly-rectifying channel, subfamily J, member 10) is a protein-coding gene. Diseases associated with KCNJ10 include kcnj10-related pendred syndrome, and sesame syndrome. GO annotations related to this gene include ATP-activated inward rectifier potassium channel activity and identical protein binding. An important paralog of this gene is KCNJ4.

UniProtKB/Swiss-Prot: IRK10_HUMAN, P78508
Function: May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier
potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than
out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external
potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward
rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by
extracellular barium and cesium (By similarity)

summary for KCNJ10 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 KCNJ10 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNJ10 gene promoter:
         AREB6   MZF-1   STAT5B   HEN1   Pax-5   deltaCREB   ARP-1   Pax-4a   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNJ10 promoter sequence
   Search Chromatin IP Primers for KCNJ10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNJ10


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

Entrez Gene cytogenetic band: 1q23.2   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q23.2

KCNJ10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNJ10 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M160007:  view genomic region     (about GC identifiers)

Start:
160,007,257 bp from pter      End:
160,040,051 bp from pter
Size:
32,795 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IRK10_HUMAN, P78508 (See protein sequence)
Recommended Name: ATP-sensitive inward rectifier potassium channel 10  
Size: 379 amino acids; 42508 Da
Subunit: Seems to form heterodimer with Kir5.1/KCNJ16. Interacts with INADL (By similarity)
Sequence caution: Sequence=AAH34036.2; Type=Erroneous initiation;
Secondary accessions: A3KME7 Q5VUT9 Q8N4I7 Q92808

Explore the universe of human proteins at neXtProt for KCNJ10: NX_P78508

Explore proteomics data for KCNJ10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNJ10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002232.2  
    ENSEMBL proteins: 
     ENSP00000357068  
    Reactome Protein details: P78508

    KCNJ10 Human Recombinant Protein Products:

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kir4.1
    Inwardly rectifying potassium channels

    4 InterPro protein domains:
     IPR003269 K_chnl_inward-rec_Kir1.2
     IPR014756 Ig_E-set
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir

    Graphical View of Domain Structure for InterPro Entry P78508

    ProtoNet protein and cluster: P78508

    2 Blocks protein domains:
    IPB001838 Inward rectifier K+ channel superfamily signature
    IPB003269 Kir1.2 inward rectifier K+ channel signature


    UniProtKB/Swiss-Prot: IRK10_HUMAN, P78508
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily


    Find genes that share domains with KCNJ10           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRK10_HUMAN, P78508
    Function: May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier
    potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than
    out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external
    potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward
    rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by
    extracellular barium and cesium (By similarity)

         Genatlas biochemistry entry for KCNJ10:
    potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 10, Kir4.1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IEA--
    GO:0005242inward rectifier potassium channel activity ----
    GO:0005267potassium channel activity ----
    GO:0005515protein binding IPI17628813
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with KCNJ10           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNJ10:
     Cell cycle / mitosis defect 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnj10):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     nervous system  vision/eye 

    Find genes that share phenotypes with KCNJ10           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcnj10tm1Lst for KCNJ10

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNJ10
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    SwitchGear 3'UTR luciferase reporter plasmidKCNJ10 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IRK10_HUMAN, P78508: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton2
    extracellular2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8995301
    GO:0005902microvillus IEA--
    GO:0016010dystrophin-associated glycoprotein complex IEA--
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with KCNJ10           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNJ10 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.82
    Activation of G protein gated Potassium channels0.82
    Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits0.82
    Potassium transport channels0.00
    G protein gated Potassium channels0.82
    2GABA receptor activation
    GABA B receptor activation0.73
    GABA receptor activation0.73
    Activation of GABAB receptors0.73
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Potassium Channels
    Potassium Channels0.43
    5Salivary secretion
    Gastric acid secretion0.34


    Find genes that share SuperPaths with KCNJ10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNJ10
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3 Reactome Pathways for KCNJ10
        Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
    Potassium transport channels
    Activation of G protein gated Potassium channels


    1 Kegg Pathway  (Kegg details for KCNJ10):
        Gastric acid secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNJ10
    Interactions:

        GeneGlobe Interaction Network for KCNJ10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for KCNJ10 (P785083 ENSP000003570684) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL16Q140053, ENSP000003029354I2D: score=3 STRING: ENSP00000302935
    INADLQ8NI353, ENSP000003602004I2D: score=3 STRING: ENSP00000360200
    DLG1Q129593, ENSP000003457314I2D: score=1 STRING: ENSP00000345731
    KCNJ16Q9NPI93, ENSP000002839364I2D: score=1 STRING: ENSP00000283936
    DLG4P783523I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS8995301
    GO:0006954inflammatory response IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007601visual perception IEA--
    GO:0007628adult walking behavior IEA--

    Find genes that share ontologies with KCNJ10           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNJ10 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 KCNJ10    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 IUPHAR Ligand for KCNJ10 (Kir4.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    nortriptyline
    Pore BlockerAntagonist4.4 - 4.817071817



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNJ10 gene: 
    NM_002241.4  

    Unigene Cluster for KCNJ10:

    Potassium inwardly-rectifying channel, subfamily J, member 10
    Hs.408960  [show with all ESTs]
    Unigene Representative Sequence: NM_002241
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368089(uc001fuw.2) ENST00000509700
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    Additional mRNA sequence: 

    AK312383.1 BC034036.1 BC037840.2 BC131627.1 U52155.1 U73193.1 

    4 DOTS entries:

    DT.95136836  DT.87046294  DT.87046903  DT.92418513 

    Selected AceView cDNA sequences (see all 75):

    AI948845 AW566005 U73193 AI631564 AI419228 AI422185 BP350144 BQ636994 
    BQ028058 AI422210 AI361037 AW071744 BM693480 AL583547 BX095323 NM_002241 
    AI767375 BX106837 BC037840 BX645774 AI830426 AA348033 T17122 BE046918 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNJ10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGCTTTTG
    KCNJ10 Expression
    About this image


    KCNJ10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
             Oligodendrocyte-like cells
     
     Spinal Cord (Nervous System)
             Oligodendrocyte-like cells
     
     Eye (Sensory Organs)
             Mature Muller Glia Cells Inner Nuclear Layer
     
     Oligodendrocytes (Nervous System)
             Oligodendrocyte-like cells
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
    KCNJ10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNJ10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408960
        Custom PCR Arrays for KCNJ10
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNJ10 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnj101 , 5 potassium inwardly-rectifying channel, subfamily J, more1, 5 89.62(n)1
    99.21(a)1
      1 (79.69 cM)5
    165131  NM_001039484.11  NP_001034573.11 
     1723412105 
    chicken
    (Gallus gallus)
    Aves LOC1008577991 ATP-sensitive inward rectifier potassium channel 1 more 79.37(n)
    87.04(a)
      100857799  XM_003643494.2  XP_003643542.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.50302 Transcribed sequence with weak similarity to protein more 79.3(n)    BQ395044.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005382671 ATP-sensitive inward rectifier potassium channel 1 more 67.2(n)
    71.16(a)
      100538267  XM_003198888.2  XP_003198936.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Irk26
    Ir6
    Inwardly rectifying potassium channel
    29(a)
    25(a)
    many ↔ many
    many ↔ many
    3R(19339690-19345167)
    3R(18999595-19011364)


    ENSEMBL Gene Tree for KCNJ10 (if available)
    TreeFam Gene Tree for KCNJ10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNJ10 gene
    KCNJ42  KCNJ92  KCNJ162  KCNJ82  KCNJ12  KCNJ122  KCNJ152  KCNJ52  
    KCNJ62  KCNJ22  KCNJ142  KCNJ32  KCNJ112  
    16 SIMAP similar genes for KCNJ10 using alignment to 3 protein entries:     IRK10_HUMAN (see all proteins):
    KCNJ1    KCNJ15    KCNJ3    KCNJ5    KCNJ12    kcnj12x
    KCNJ6    KCNJ11    KCNJ18    KCNJ2    KCNJ9    KCNJ14
    KCNJ16    KCNJ13    KCNJ4    KCNJ8

    Find genes that share paralogs with KCNJ10           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNJ10 (see all 700)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630644
    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4--see VAR_0630642 R C mis40--------
    VAR_0630604
    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4--see VAR_0630602 G R mis40--------
    VAR_0630634
    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4--see VAR_0630632 A V mis40--------
    VAR_0630624
    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4--see VAR_0630622 T I mis40--------
    VAR_0630614
    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4--see VAR_0630612 C R mis40--------
    VAR_0630594
    Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)4--see VAR_0630592 R P mis40--------
    rs1378530741,2
    Cpathogenic1166506967(-) CTGTAC/TGCTAC 2 R C mis10--------
    rs57781481,2
    C--131369782(+) CTTAA-/C/CAC 
            
    Aacac
    2 -- int1 cds10--------
    rs747571191,2
    C--131381342(+) AAGAC-/TTGCTG 1 -- int10--------
    rs720130771,2
    C--160009164(+) ATAGA-/AC    
       
    /ACAC
    CACAC
    2 -- ut310--------

    HapMap Linkage Disequilibrium report for KCNJ10 (160007257 - 160040051 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KCNJ10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669935CNV Deletion23128226
    nsv3199CNV Insertion18451855
    nsv520189CNV Loss19592680
    esv7386CNV Gain19470904

    Human Gene Mutation Database (HGMD): KCNJ10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNJ10
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNJ10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602208   
    OMIM disorders: 612780  600791  
    UniProtKB/Swiss-Prot: IRK10_HUMAN, P78508
  • Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
    [MIM:612780]: A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor
    development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for KCNJ10:    
    About MalaCards
    kcnj10-related pendred syndrome    sesame syndrome    enlarged vestibular aqueduct, digenic    pendred syndrome/dfnb4
    enlarged vestibular aqueduct    pendred syndrome    idiopathic generalized epilepsy

    2 diseases from the University of Copenhagen DISEASES database for KCNJ10:
    Enlarged vestibular aqueduct     Sensorineural hearing loss

    Find genes that share disorders with KCNJ10           About GenesLikeMe

    Genetic Association Database (GAD): KCNJ10
    Human Genome Epidemiology (HuGE) Navigator: KCNJ10 (11 documents)

    Export disorders for KCNJ10 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)
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    PubMed articles for KCNJ10 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with KCNJ10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3). (PubMed id 8995301)1, 2, 3 Shuck M.E....Bienkowski M.J. (J. Biol. Chem. 1997)
    2. Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. (PubMed id 19864112)1, 4, 9 Heuser K....Ottersen O.P. (Epilepsy Res. 2010)
    3. No association between the KCNH1, KCNJ10 and KCNN3 genes and schizophrenia in the Han Chinese population. (PubMed id 20933057)1, 4 Shen Q....He G. (Neurosci. Lett. 2011)
    4. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (PubMed id 20621367)1, 4 Jonard L....Marlin S. (Int. J. Pediatr. Otorhinolaryngol. 2010)
    5. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. (PubMed id 19420365)1, 2 Bockenhauer D.... Kleta R. (N. Engl. J. Med. 2009)
    6. Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. (PubMed id 19523148)1, 4 Pawelczyk M....Sliwinska-Kowalska M. (Ann. Hum. Genet. 2009)
    7. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. (PubMed id 19289823)1, 2 Scholl U.I.... Lifton R.P. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    8. Association analysis of chromosome 1 migraine candidate genes. (PubMed id 17727731)1, 4 Fernandez F....Griffiths L.R. (BMC Med. Genet. 2007)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PubMed id 16382105)1, 3 Kubo Y....Vandenberg C.A. (Pharmacol. Rev. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 3766 HGNC: 6256 AceView: KCNJ10 Ensembl:ENSG00000177807 euGenes: HUgn3766
    ECgene: KCNJ10 Kegg: 3766 H-InvDB: KCNJ10

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KCNJ10 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNJ10 gene:
    Search GeneIP for patents involving KCNJ10

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



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