BSND barttin CLCNK type accessory subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: BSNDprovided by HGNC
Official Full Name: barttin CLCNK type accessory subunit betaprovided by HGNC
Primary source: HGNC:HGNC:16512
See related: Ensembl:ENSG00000162399 MIM:606412; AllianceGenome:HGNC:16512
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BART; DFNB73
Summary: 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]
Expression: Restricted expression toward kidney (RPKM 9.3) See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (54998933..55017172)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (54879168..54898082)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (55464606..55482845)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.
Title: DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.
Increasing expression of barttin over that of ClC-K partially recovered this insufficiency, indicating that N-terminal modifications of barttin alter both binding affinities and gating properties
Title: Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.
These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma
Title: BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors.
results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin.
Title: Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit
Title: Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.
R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity.
Title: Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.
BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
Title: Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.
Case Report: G47R mutation decreases barttin expression, resulting CIC-K location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.
Title: Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bartter disease type 4A MedGen: C1865270 OMIM: 602522 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2652 (e-PCR), detects polymorphism
- UniSTS:47692

NoName (e-PCR)
- UniSTS:480605

BSND_8762 (e-PCR)
- UniSTS:467588

RH124597 (e-PCR)
- UniSTS:161419

PMC153210P1 (e-PCR)
- UniSTS:271251

G60531 (e-PCR)
- UniSTS:137637

RH125423 (e-PCR)
- UniSTS:162245

NoName (e-PCR)
- UniSTS:484088

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables chloride channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: barttin

Names: Bartter syndrome, infantile, with sensorineural deafness (Barttin); barttin CLCNK type accessory beta subunit; barttin CLCNK-type chloride channel accessory beta subunit; deafness, autosomal recessive 73

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.