CLCNKB

Chr 1p36.13

chloride voltage-gated channel Kb

Aliases:: hClC-Kb, CLCKB, ClC-K2, ClC-Kb
MANE:: ENST00000375679.9

OMIM: 602023 ↗NCBI: 1188 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CLCNKB · P51801

v62025-08-01

Predicted Aligned Error matrix for CLCNKB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.2/ 100

Confident

687 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)31%
Low(50–70)5%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bartter disease type 3
0.82
Bartter syndrome
0.76
Gitelman syndrome
0.38
Bartter syndrome type 4
0.38
prostate carcinoma
0.36
epilepsy, familial focal, with variable foci 1
0.34
Proteinuria
0.30
Hematuria
0.30
autosomal dominant osteopetrosis 1
0.27
cardioverter defibrillator
0.23

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Chloride channel protein ClC-Kb

Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:16849430, PubMed:18776122, PubMed:19646679). Assembles with the regulatory subunit BSND/Barttin for sorting at the basolateral plasma membrane domain and functional switch to the ion conducting state. CLCNKB:BSND channels display mostly a linear current-voltage relationship controlled by common gate (PubMed:11734858, PubMed:12111250, PubMed:16849430, PubMed:18776122, PubMed:19646679). Mediates chloride conductance along nephron segments, namely the thick ascending limb of Henle's loop, convoluted tubule and the collecting duct, contributing to the maintenance of systemic acid-base and electrolyte homeostasis (By similarity). Conducts chloride currents in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:15044642, PubMed:18310267, PubMed:19646679)