Bsnd barttin CLCNK type accessory beta subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bsndprovided by MGI
Official Full Name: barttin CLCNK type accessory beta subunitprovided by MGI
Primary source: MGI:MGI:2153465
See related: Ensembl:ENSMUSG00000025418 AllianceGenome:MGI:2153465
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables chloride channel regulator activity. Contributes to chloride channel activity. Involved in sensory perception of sound. Located in basolateral plasma membrane. Part of protein-containing complex. Is expressed in central nervous system; inner ear; and metanephros. Used to study Bartter disease type 4a. Human ortholog(s) of this gene implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss. Orthologous to human BSND (barttin CLCNK type accessory subunit beta). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward kidney adult (RPKM 30.7) See more
Orthologs: human all
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Genomic context

Location:: 4 C7; 4 49.67 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (106340653..106349440, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (106483456..106492243, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Title: Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
our study provides in vivo evidence that, in response to a low-potassium diet, ClC-K and barttin play important roles in the activation of the WNK4-SPAK-NCC cascade and blood pressure regulation.
Title: Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney.
induction of SGK1, CLC-K1 and barttin by high osmolarity and change in intracellular volume in distal renal tubular cells in vivo and in vitro
Title: High osmolality induces the kidney-specific chloride channel CLC-K1 by a serum and glucocorticoid-inducible kinase 1 MAPK pathway.
Bsnd(-/-) mice thus demonstrate a novel function of Cl(-) channels in generating the endocochlear potential and reveal the mechanism leading to deafness in human Bartter syndrome IV.
Title: Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

General gene information

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Markers

Bsnd (e-PCR), detects polymorphism
- UniSTS:545903

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
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 chloride transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular chloride ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within intracellular monoatomic ion homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in intracellular potassium ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	NAS Non-traceable Author Statement more info	PubMed

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 membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: barttin

Names: Bartter syndrome, infantile, with sensorineural deafness (Barttin)

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.