Identity
HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
CLCKB,ClC-K2,ClC-Kb
FUSION GENES
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: 1188
MIM: 602023
HGNC: 2027
Ensembl: ENSG00000184908
Variants:
dbSNP: 1188
ClinVar: 1188
TCGA: ENSG00000184908
COSMIC: CLCNKB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184908 | ENST00000375667 | P51801 |
| ENSG00000184908 | ENST00000375679 | P51801 |
| ENSG00000184908 | ENST00000431772 | Q5T5Q6 |
| ENSG00000184908 | ENST00000619181 | A0A087X136 |
Expression (GTEx)
Pathways
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 |
|---|---|---|---|
| 37612755 | 2023 | Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. | 1 |
| 38069401 | 2023 | Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss. | 1 |
| 37612755 | 2023 | Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. | 1 |
| 38069401 | 2023 | Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss. | 1 |
| 35913199 | 2022 | A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis. | 2 |
| 35913199 | 2022 | A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis. | 2 |
| 33807568 | 2021 | Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree. | 4 |
| 33807568 | 2021 | Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree. | 4 |
| 31803959 | 2020 | Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome. | 2 |
| 31834604 | 2020 | Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3. | 8 |
| 31803959 | 2020 | Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome. | 2 |
| 31834604 | 2020 | Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3. | 8 |
| 31115572 | 2019 | A novel mutation associated with Type III Bartter syndrome: A report of five cases. | 4 |
| 31409296 | 2019 | A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report. | 3 |
| 31115572 | 2019 | A novel mutation associated with Type III Bartter syndrome: A report of five cases. | 4 |
Citation
Dessen P
CLCNKB (chloride voltage-gated channel Kb)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61855/clcnkb-(chloride-voltage-gated-channel-kb)
