K_ir2.6

KCNJ18
Identifiers
Aliases	KCNJ18, KIR2.6, TTPP2, potassium voltage-gated channel subfamily J member 18, potassium inwardly rectifying channel subfamily J member 18
External IDs	OMIM: 613236; MGI: 108495; GeneCards: KCNJ18
Gene location (Human)
Chr.	Chromosome 17 (human)
End	21,704,612 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	60,961,957 bp
RNA expression pattern
	Top expressed in
	skin of abdomen; ; skin of leg; ; tonsil; ; olfactory zone of nasal mucosa; ; right testis; ; left testis; ; skeletal muscle; ; muscle of leg; ; gastrocnemius muscle; ; vagina;
	Top expressed in
	muscle of thigh; ; cerebellar cortex; ; lumbar spinal ganglion; ; sternocleidomastoid muscle; ; lens; ; triceps brachii muscle; ; skeletal muscle tissue; ; knee joint; ; temporal muscle; ; quadriceps femoris muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	voltage-gated ion channel activity; inward rectifier potassium channel activity;
Cellular component	integral component of membrane; plasma membrane; integral component of plasma membrane; membrane;
Biological process	potassium ion transport; regulation of ion transmembrane transport; ion transport; potassium ion import across plasma membrane;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	100134444
	16515
	ENSG00000260458
	ENSMUSG00000042529
	B7U540
	P52187
	NM_001194958
	NM_001267593; NM_010603
	NP_001181887
	NP_001254522; NP_034733
	Wikidata
View/Edit Human	View/Edit Mouse

The K_ir2.6 also known as inward rectifier potassium channel 18 is a protein that in humans is encoded by the KCNJ18 gene.^[5] K_ir2.6 is an inward-rectifier potassium ion channel.

Function

Inwardly rectifying potassium channels, such as K_ir2.6, maintain resting membrane potential in excitable cells and aid in repolarization of cells following depolarization. K_ir2.6 is primarily expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone.^[5]

Clinical significance

Mutations in this gene have been linked to thyrotoxic periodic paralysis.^[5]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000260458 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042529 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 3 Ryan DP, da Silva MR, Soong TW, et al. (January 2010). "Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis". Cell. 140 (1): 88–98. doi:10.1016/j.cell.2009.12.024. PMC 2885139. PMID 20074522.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000260458 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042529 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Ryan-5] 1 2 3 Ryan DP, da Silva MR, Soong TW, et al. (January 2010). "Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis". Cell. 140 (1): 88–98. doi:10.1016/j.cell.2009.12.024. PMC 2885139. PMID 20074522.

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K_ir2.6

Function

Clinical significance

References