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KCNJ18 Gene

protein-coding   GIFtS: 29
GCID: GC17P8V0344

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

  See KCNJ18-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 181 2     TTPP22 5
Inward Rectifier K(+) Channel Kir2.62 3     Inward Rectifier Potassium Channel 182
Potassium Channel, Inwardly Rectifying Subfamily J Member 182 3     Thyrotoxic Periodic Paralysis Susceptibility Ion Channel2
KIR2.62 5     

External Ids:    HGNC: 390801   Entrez Gene: 1001344442   OMIM: 6132365   UniProtKB: B7U5403   

Export aliases for KCNJ18 gene to outside databases

Previous GC identifers: GC00U930362 GC17U901422 GC00M000095 GC17Pr21596


(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 KCNJ18 Gene:
This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is
regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance.
Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. (provided by RefSeq,
Jan 2013)

GeneCards Summary for KCNJ18 Gene:
KCNJ18 (potassium inwardly-rectifying channel, subfamily J, member 18) is a protein-coding gene. Diseases associated with KCNJ18 include thyrotoxic periodic paralysis, and thyrotoxic periodic paralysis 2. GO annotations related to this gene include inward rectifier potassium channel activity.

UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540
Function: 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




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for KCNJ18
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KCNJ18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNJ18


Genomic Location:
Chromosome:17   

HGNC chromosome: 17

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P8V0344:       (about GC identifiers)

Start:
344,888 bp from pter      End:
356,977 bp from pter
Size:
12,090 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540 (See protein sequence)
Recommended Name: Inward rectifier potassium channel 18  
Size: 433 amino acids; 48738 Da

Explore the universe of human proteins at neXtProt for KCNJ18: NX_B7U540

Explore proteomics data for KCNJ18 at MOPED

Post-translational modifications: 

  • Probably phosphorylated by PKC; decreases single-channel open probability1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCNJ18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001181887.2  

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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

    5 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR003272 K_chnl_inward-rec_Kir2.2
     IPR013518 K_chnl_inward-rec_Kir_cyto
     IPR016449 K_chnl_inward-rec_Kir
     IPR013673 K_chnl_inward-rec_Kir_N

    Graphical View of Domain Structure for InterPro Entry B7U540

    ProtoNet protein and cluster: B7U540

    UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540
    Similarity: Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily


    Find genes that share domains with KCNJ18           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: IRK18_HUMAN, B7U540
    Function: 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
    Induction: Up-regulated by triiodothyronine

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity IDA--
         
    Find genes that share ontologies with KCNJ18           About GenesLikeMe


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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
    IRK18_HUMAN, B7U540: Cell membrane; Multi-pass membrane protein (Probable)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with KCNJ18           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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    Interactions:

        Search GeneGlobe Interaction Network for KCNJ18

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0071805potassium ion transmembrane transport IDA--

    Find genes that share ontologies with KCNJ18           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 Tocris compounds for KCNJ18 (IRK18)



    (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,
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    REFSEQ mRNAs for KCNJ18 gene: 
    NM_001194958.2  

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    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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    KCNJ18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNJ18 Expression
    About this image

    KCNJ18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNJ18 Protein Expression

    UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540
    Tissue specificity: Specifically expressed in skeletal muscle

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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 chordates.

    Orthologs for KCNJ18 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-23l10.21 si:ch211-23l10.2 72.2(n)
    75.48(a)
      795702  XM_005163848.1  XP_005163905.1 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNJ18 gene
    16 SIMAP similar genes for KCNJ18 using alignment to 1 protein entry:     IRK18_HUMAN:
    kcnj12x    KCNJ12    KCNJ2    KCNJ4    KCNJ5    KCNJ14
    KCNJ11    KCNJ6    KCNJ9    KCNJ8    KCNJ3    KCNJ15
    KCNJ1    KCNJ16    KCNJ10    KCNJ13

    Find genes that share paralogs with KCNJ18           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 KCNJ18 (see all 11)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632864
    Thyrotoxic periodic paralysis 2 (TTPP2)4--see VAR_0632862 T M mis40--------
    VAR_0632884
    Thyrotoxic periodic paralysis 2 (TTPP2)4--see VAR_0632882 T M mis40--------
    VAR_0632874
    Thyrotoxic periodic paralysis 2 (TTPP2)4--see VAR_0632872 R H mis40--------
    VAR_0632894
    Thyrotoxic periodic paralysis 2 (TTPP2)4--see VAR_0632892 K R mis40--------
    rs37520361,2
    H--21595591(+) CTGGCG/CCTACA 2 /P /R mis14Minor allele frequency- C:0.00NS EA 418
    rs40210921,2
    ----21591323(-) CAGGGA/CCTGGG 1 -- int10--------
    rs23640201,2
    ----21590311(-) AGCCAC/G/TTGGTG 1 -- int10--------
    rs351959871,2
    ----21595062(+) TCAGTA/GTGGGA 1 -- int10--------
    rs16577101,2
    ----21585478(+) CCAGCC/TTCATT 1 -- int10--------
    rs40210951,2
    ----21590312(-) CTGAG-/AG    
       T
    /CCA
    GTGGT
    2 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for KCNJ18 (344888 - 356977 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for KCNJ18:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660756CNV Deletion23128226
    nsv511597CNV Loss21212237
    nsv907891CNV Loss21882294
    esv33687CNV Gain17666407
    nsv907889CNV Gain21882294
    dgv363n27CNV Gain19166990
    esv34477CNV Gain17911159
    nsv907888CNV Gain21882294
    dgv937e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): KCNJ18
    Site Specific Mutation Identification with PCR Assays
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    (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: 613236   
    OMIM disorders: 613239  
    UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540
  • Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]: A sporadic muscular disorder characterized by
    episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic
    periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease
    manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities
    that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high
    carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can
    occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 4 diseases for KCNJ18:    
    About MalaCards
    thyrotoxic periodic paralysis    thyrotoxic periodic paralysis 2    thyrotoxic periodic paralysis 1    hypokalemic periodic paralysis


    Find genes that share disorders with KCNJ18           About GenesLikeMe


    Export disorders for KCNJ18 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 KCNJ18 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KCNJ18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. (PubMed id 20074522)1, 2, 3 Ryan D.P.... Ptacek L.J. (Cell 2010)
    2. Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis. (PubMed id 22910584)1 Chu P.Y....Lin S.H. ( international journal of clinical chemistry 2012)
    3. Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. (PubMed id 21665951)1 Cheng C.J....Huang C.L. (J. Biol. Chem. 2011)
    4. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    5. Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. (PubMed id 21209095)1 Dassau L....Vandenberg C.A. (J. Biol. Chem. 2011)

    (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: 100134444 HGNC: 39080 euGenes: HUgn100134444 ECgene: KCNJ18 H-InvDB: KCNJ18

    (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)
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    NameDescription
    PharmGKB entry for KCNJ18 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 KCNJ18 gene:
    Search GeneIP for patents involving KCNJ18

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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