BSND

barttin CLCNK type accessory subunit beta, the group of Chloride voltage-gated channels

Basic information

Region (hg38): 1:54998933-55017172

Previous symbols: [ "DFNB73" ]

Links

ENSG00000162399

∙ NCBI:7809 ∙ OMIM:606412 ∙ HGNC:16512 ∙ Uniprot:Q8WZ55 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Bartter disease type 4A (Strong), mode of inheritance: AR
Bartter disease type 4A (Definitive), mode of inheritance: AR
Bartter syndrome type 4 (Supportive), mode of inheritance: AR
hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
Bartter disease type 4A (Strong), mode of inheritance: AR
Bartter disease type 4A (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bartter syndrome, type 4A, neonatal, with sensorineural deafness	AR	Audiologic/Otolaryngologic; Renal	Individuals may have renal perturbations, (eg, including metabolic alkalosis and hypokalemia), for which treatment can be beneficial; Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic; Renal	11687798; 12574213; 19646679; 21158220; 21269598; 23110775; 30174009; 31667618

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BSND gene.

not_provided (287 variants)
Bartter_syndrome (72 variants)
Bartter_disease_type_4A (70 variants)
Inborn_genetic_diseases (43 variants)
not_specified (42 variants)
BSND-related_disorder (9 variants)
Sensorineural_deafness_with_mild_renal_dysfunction (2 variants)
Hearing_loss,_autosomal_recessive (2 variants)
Hearing_impairment (2 variants)
Bartter_syndrome_type_4 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BSND gene is commonly pathogenic or not. These statistics are base on transcript: NM_000057176.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	145 clinvar	3 clinvar	151
missense	3 clinvar	6 clinvar	105 clinvar	16 clinvar		130
nonsense	9 clinvar		4 clinvar	1 clinvar		14
start loss	1	1	1			3
frameshift	8 clinvar	3 clinvar	3 clinvar	1 clinvar		15
splice donor/acceptor (+/-2bp)		5 clinvar				5
Total	21	15	116	163	3

Highest pathogenic variant AF is 0.000189723

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BSND	protein_coding	protein_coding	ENST00000371265	4	11951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-10	0.0256	125660	0	88	125748	0.000350

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0663	190	193	0.987	0.0000112	2125
Missense in Polyphen		72	70.195	1.0257		796
Synonymous	-1.42	96	79.8	1.20	0.00000501	615
Loss of Function	-0.605	14	11.8	1.19	5.06e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00227	0.00227
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.0000544	0.0000544
Finnish	0.0000927	0.0000924
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.0000544	0.0000544
South Asian	0.000490	0.000490
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. {ECO:0000269|PubMed:11734858, ECO:0000269|PubMed:12111250}.;
Disease: DISEASE: Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522]: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness. {ECO:0000269|PubMed:11687798, ECO:0000269|PubMed:12111250, ECO:0000269|PubMed:12574213, ECO:0000269|PubMed:12761627}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Diuretics Pathway, Pharmacodynamics;Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

pRec: 0.365

Intolerance Scores

loftool: 0.323
rvis_EVS: -0.36
rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

pHI: 0.0748
hipred: N
hipred_score: 0.123
ghis: 0.467

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0856

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Bsnd
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); renal/urinary system phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: ion transmembrane transport;chloride transmembrane transport
Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane;basolateral plasma membrane;protein-containing complex
Molecular function: voltage-gated chloride channel activity;chloride channel activity;chloride channel regulator activity