BSND

Protein identityUniProt · HPA

UniProt accession

Q8WZ55

Gene

BSND

Ensembl

ENSG00000162399

Chromosome

1

Canonical length

320 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

320 residues, UniProt reviewed canonical sequence.

>Q8WZ55|BSND
     1  MADEKTFRIG FIVLGLFLLA LGTFLMSHDR PQVYGTFYAM GSVMVIGGII WSMCQCYPKI
    61  TFVPADSDFQ GILSPKAMGL LENGLAAEMK SPSPQPPYVR LWEEAAYDQS LPDFSHIQMK
   121  VMSYSEDHRS LLAPEMGQPK LGTSDGGEGG PGDVQAWMEA AVVIHKGSDE SEGERRLTQS
   181  WPGPLACPQG PAPLASFQDD LDMDSSEGSS PNASPHDREE ACSPQQEPQG CRCPLDRFQD
   241  FALIDAPTLE DEPQEGQQWE IALPNNWQRY PRTKVEEKEA SDTGGEEPEK EEEDLYYGLP
   301  DGAGDLLPDK ELGFEPDTQG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BSND can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.68

Highest tissue expression

3.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BSND.

Disease | AllUniProt

Conditions BSND is implicated in, by any mechanism.

• Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) MIM:602522

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 414 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bartter syndrome
• Bartter disease type 4A
• Hearing loss, autosomal recessive
• Sensorineural deafness with mild renal dysfunction
• BSND-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.78

gnomAD pLI

0

gnomAD missense Z

0.07

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chloride transport
• sensory perception of sound

Molecular functions

• chloride channel activity
• chloride channel regulator activity

Cellular components

• basolateral plasma membrane
• plasma membrane
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Barttin
• Bartter syndrome, infantile, with sensorineural deafness (Barttin)

KeywordsUniProt

• Bartter syndrome
• Cell membrane
• Deafness
• Lipoprotein
• Membrane
• Palmitate
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of BSND in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLCNKB
• CLCNKA