KCNJ18 potassium inwardly-rectifying channel, subfamily J, member 18 [Homo sapiens] - Gene

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Summary

Official Symbol: KCNJ18provided by HGNC
Official Full Name: potassium inwardly-rectifying channel, subfamily J, member 18provided by HGNC
Primary source: HGNC:39080
See related: MIM:613236
Gene type: protein coding
RefSeq status: VALIDATED
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: Inwardly rectifying potassium channels, such as KCNJ18, maintain resting membrane potential in excitable cells and aid in repolarization of cells following depolarization. KCNJ18 is primarily expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone (Ryan et al., 2010 [PubMed 20074522]).[supplied by OMIM, Jan 2010]
Annotation information: Annotation category: not annotated on reference assembly

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Genomic context

Location :: chromosome: 17

See KCNJ18 in MapViewer

NW_003315950.1 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

suggest that decreased outward K(+) current from hypofunction of Kir2.6 predisposes the sarcolemma to hypokalemia-induced paradoxical depolarization during attacks, which in turn leads to Na(+) channel inactivation and inexcitability of muscles
Title: Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.
Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
Title: Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.
While sequencing candidate genes, we identified a previously unreported gene (not present in human sequence databases) that encodes an inwardly rectifying potassium (Kir) channel, Kir2.6.
Title: Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Submit: New GeneRIF Correction

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General gene information

Markers

SHGC-11071 (e-PCR)
- UniSTS:53064

KCNJ12_870 (e-PCR)
- UniSTS:277420

KCNJ12_V177 (e-PCR)
- UniSTS:277420

Genotypes

See KCNJ18 SNP Geneview Report

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General protein information

Preferred Names: potassium inwardly-rectifying channel, subfamily J, member 18

Names: potassium inwardly-rectifying channel, subfamily J, member 18; inward rectifier potassium channel 18; thyrotoxic periodic paralysis susceptibility ion channel

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_001194958.2 → NP_001181887.2 potassium inwardly-rectifying channel, subfamily J, member 18

Status: VALIDATED

Source sequence(s)

AC233702

Conserved Domains (2) summary

pfam08466
Location:2 – 46
Blast Score: 217

IRK_N; Inward rectifier potassium channel N-terminal

cl11596
Location:47 – 381
Blast Score: 1559

Ion_trans_2; Ion channel