KCNJ18 (potassium inwardly rectifying channel subfamily J member 18)

2014-11-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
KIR2.6,TTPP2

Other Information

Locus ID:

NCBI: 100134444
MIM: 613236
HGNC: 39080
Ensembl: ENSG00000260458

Variants:

dbSNP: 100134444
ClinVar: 100134444
TCGA: ENSG00000260458
COSMIC: KCNJ18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000260458ENST00000567955B7U540

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
258857572015The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.2
200745222010Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.0
212090952011Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.0
216659512011Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.0
229105842012Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.0
258829302016Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.0
271788712016A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.0
281316272017Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.0
313613092019Contribution of Asian Haplotype of KCNJ18 to Susceptibility to and Ethnic Differences in Thyrotoxic Periodic Paralysis.0

Citation

Dessen P

KCNJ18 (potassium inwardly rectifying channel subfamily J member 18)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64790/kcnj18