KCNJ16 (potassium inwardly rectifying channel subfamily J member 16)

2017-04-01  

Identity

HGNC
LOCATION
17q24.3
LOCUSID
ALIAS
BIR9,KIR5.1

Other Information

Locus ID:

NCBI: 3773
MIM: 605722
HGNC: 6262
Ensembl: ENSG00000153822

Variants:

dbSNP: 3773
ClinVar: 3773
TCGA: ENSG00000153822
COSMIC: KCNJ16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153822ENST00000283936Q9NPI9
ENSG00000153822ENST00000392670Q9NPI9
ENSG00000153822ENST00000392671Q9NPI9
ENSG00000153822ENST00000585558K7EJR9
ENSG00000153822ENST00000586462K7EPW9
ENSG00000153822ENST00000587698K7ELL5
ENSG00000153822ENST00000587892K7EKJ4
ENSG00000153822ENST00000589377Q9NPI9
ENSG00000153822ENST00000591891K7EKJ4
ENSG00000153822ENST00000615244Q9NPI9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunitsREACTOMER-HSA-997272
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
G protein gated Potassium channelsREACTOMER-HSA-1296059
Activation of G protein gated Potassium channelsREACTOMER-HSA-1296041
Potassium transport channelsREACTOMER-HSA-1296067

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
253393162014Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.16
241932502013KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.12
285778532017Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.7
275995822016Elucidation of the molecular mechanisms of anaplastic thyroid carcinoma by integrated miRNA and mRNA analysis.3
266635292016Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.1

Citation

Dessen P

KCNJ16 (potassium inwardly rectifying channel subfamily J member 16)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56740/kcnj16