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

Gene ID: 100134444, updated on 12-Nov-2017
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
108 current GRCh38.p7 (GCF_000001405.33) 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 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 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 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 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

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    21605469..21617558
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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