BSND

Chr 1p32.3

barttin CLCNK type accessory subunit beta

Aliases:: BART
MANE:: ENST00000651561.1

OMIM: 606412 ↗NCBI: 7809 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

BSND · Q8WZ55

v62025-08-01

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

Mean pLDDT

53.7/ 100

Low

320 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)15%
Low(50–70)38%
Very low(< 50)47%

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
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
CAKUT
BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Bartter disease type 4A
0.82
Bartter syndrome
0.67
Bartter syndrome type 4
0.67
hearing loss, autosomal recessive
0.50
deafness
0.41
hearing loss disorder
0.37
Hearing impairment
0.37
metabolic disease
0.33
hyperlipidemia
0.32
hereditary disease
0.19

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

Protein function (UniProt)

Barttin

Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830). Most likely acts as a chaperone that allosterically regulates proper sorting of CLCNKA:BSND and CLCNKB:BSND channels at the basolateral plasma membrane domain and functional switch to ion conducting state. Mediates constitutive opening of channel common gates (PubMed:11734858, PubMed:12111250, PubMed:12574213, PubMed:16849430, PubMed:18776122, PubMed:19646679, PubMed:20538786, PubMed:26013830)