Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1187
MIM: 602024
HGNC: 2026
Ensembl: ENSG00000186510
Variants:
dbSNP: 1187
ClinVar: 1187
TCGA: ENSG00000186510
COSMIC: CLCNKA
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000186510 | ENST00000331433 | P51800 |
| ENSG00000186510 | ENST00000375692 | P51800 |
| ENSG00000186510 | ENST00000439316 | P51800 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134911659 | BSND | Gene | Pathway | associated | 23788015 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38069401 | 2023 | Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss. | 1 |
| 38069401 | 2023 | Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss. | 1 |
| 32581267 | 2020 | Role of PKC in the Regulation of the Human Kidney Chloride Channel ClC-Ka. | 0 |
| 32581267 | 2020 | Role of PKC in the Regulation of the Human Kidney Chloride Channel ClC-Ka. | 0 |
| 29674316 | 2018 | Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin. | 5 |
| 29674316 | 2018 | Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin. | 5 |
| 25919862 | 2015 | Associations between CLCNKA_B tag SNPs with essential hypertension and interactions between genetic and environmental factors in an island population in China. | 1 |
| 26013830 | 2015 | Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional. | 14 |
| 25919862 | 2015 | Associations between CLCNKA_B tag SNPs with essential hypertension and interactions between genetic and environmental factors in an island population in China. | 1 |
| 26013830 | 2015 | Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional. | 14 |
| 24863058 | 2014 | Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes. | 18 |
| 24863058 | 2014 | Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes. | 18 |
| 23850580 | 2013 | A CLCNKA polymorphism (rs10927887; p.Arg83Gly) previously linked to heart failure is associated with the estimated glomerular filtration rate in the RENASTUR cohort. | 4 |
| 23850580 | 2013 | A CLCNKA polymorphism (rs10927887; p.Arg83Gly) previously linked to heart failure is associated with the estimated glomerular filtration rate in the RENASTUR cohort. | 4 |
| 21248228 | 2011 | Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. | 46 |
Citation
Dessen P
CLCNKA (chloride voltage-gated channel Ka)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/40098/clcnka
