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

KCNJ18 Gene

protein-coding   GIFtS: 28
GCID: GC17P8V0344

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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 paralysis, and thyrotoxic periodic paralysis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KCNJ18
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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.,
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About This Section

UniProtKB/Swiss-Prot: IRK18_HUMAN, B7U540 (See protein sequence)
Recommended Name: Inward rectifier potassium channel 18  
Size: 433 amino acids; 48738 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Probable)

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

Explore proteomics data for KCNJ18 at MOPED 

Post-translational modifications:

  • UniProtKB: Probably phosphorylated by PKC; decreases single-channel open probability
  • View neXtProt modification sites for NX_B7U540

  • KCNJ18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNJ18 Protein Expression
    REFSEQ proteins: NP_001181887.2  
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    KCNJ18 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

    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


    KCNJ18 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005242inward rectifier potassium channel activity IDA--
         
    KCNJ18 for ontologies           About GeneDecksing


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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNJ18

    (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
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    Search CenterWatch for drugs/clinical trials and news about 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,
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    About This Section

    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™, 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

    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


    See KCNJ18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNJ18

    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)
    About This Section
      --

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    KCNJ18 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

    10/11 SNPs in KCNJ18 are shown (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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 7 diseases for KCNJ18:    About MalaCards
    paralysis    thyrotoxic periodic paralysis    hypokalemic periodic paralysis    hypokalemia
    thyroiditis    hyperthyroidism    graves' disease


    KCNJ18 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for KCNJ18 gene integrated from 9 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 susceptib ility to thyrotoxic hypokalemic periodic paralysis. (PubMed id 20074522)1, 2, 3 Ryan D.P....PtA!cek L.J. (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. (2012)
    3. Identification and functional characterization of Kir 2.6 mutations associated with non-familial hypokalemic periodic paralysis. (PubMed id 21665951)1 Cheng C.J....Huang C.L. (2011)
    4. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    5. Kir2.6 regulates the surface expression of Kir2.x inw ard rectifier potassium channels. (PubMed id 21209095)1 Dassau L....Vandenberg C.A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 100134444 HGNC: 39080 euGenes: HUgn100134444 ECgene: KCNJ18 H-InvDB: KCNJ18

    (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 KCNJ18 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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