Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    KCNJ18 potassium voltage-gated channel subfamily J member 18 [ Homo sapiens (human) ]

    Gene ID: 100134444, updated on 29-Mar-2018
    Official Symbol
    KCNJ18provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily J member 18provided by HGNC
    Primary source
    HGNC:HGNC:39080
    See related
    Ensembl:ENSG00000260458 MIM:613236; Vega:OTTHUMG00000175863
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TTPP2; KIR2.6
    Summary
    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]
    Expression
    Biased expression in skin (RPKM 1.2), heart (RPKM 0.3) and 9 other tissues See more
    Orthologs
    Location:
    17p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (21692523..21705700)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 (PATCHES) NW_003315950.2 (344888..356977)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene fermitin family member 3 pseudogene Neighboring gene uncharacterized LOC101930665 Neighboring gene dual specificity mitogen-activated protein kinase kinase 3 Neighboring gene abhydrolase domain containing 15 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    inward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inward rectifier potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    potassium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    inward rectifier potassium channel 18
    Names
    inward rectifier K(+) channel Kir2.6
    inwardly rectifying potassium channel 18
    potassium channel, inwardly rectifying subfamily J, member 18
    thyrotoxic periodic paralysis susceptibility ion channel

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033093.1 RefSeqGene

      Range
      5001..17090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001194958.2NP_001181887.2  inward rectifier potassium channel 18

      Status: REVIEWED

      Source sequence(s)
      AC233702
      Consensus CDS
      CCDS74015.1
      UniProtKB/Swiss-Prot
      B7U540
      Related
      ENSP00000457807.2, OTTHUMP00000254166, ENST00000567955.3, OTTHUMT00000431196
      Conserved Domains (2) summary
      pfam01007
      Location:47374
      IRK; Inward rectifier potassium channel
      pfam08466
      Location:346
      IRK_N; Inward rectifier potassium channel N-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      21692523..21705700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005276919.3XP_005276976.1  inward rectifier potassium channel 18 isoform X1

      Conserved Domains (2) summary
      pfam01007
      Location:149476
      IRK; Inward rectifier potassium channel
      pfam08466
      Location:105148
      IRK_N; Inward rectifier potassium channel N-terminal
    Support Center