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

    Gene ID: 140475, updated on 27-Nov-2024

    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, Nov 2024]
    Expression
    Restricted expression toward kidney adult (RPKM 30.7) See more
    Orthologs
    NEW
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    Genomic context

    See Bsnd in Genome Data Viewer
    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_000070.7Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 24 Neighboring gene proprotein convertase subtilisin/kexin type 9 Neighboring gene predicted gene, 30487 Neighboring gene STARR-positive B cell enhancer mm9_chr4:106164877-106165178 Neighboring gene transmembrane protein 61 Neighboring gene predicted gene, 54247

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    General gene information

    Markers

    Clone Names

    • MGC47291

    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

    Preferred Names
    barttin
    Names
    Bartter syndrome, infantile, with sensorineural deafness (Barttin)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_080458.2NP_536706.2  barttin

      See identical proteins and their annotated locations for NP_536706.2

      Status: VALIDATED

      Source sequence(s)
      AK052587, AL954352
      Consensus CDS
      CCDS18419.1
      UniProtKB/Swiss-Prot
      B1AZI5, Q8C740, Q8CHY0, Q8VIM4
      Related
      ENSMUSP00000049563.4, ENSMUST00000054472.4
      Conserved Domains (1) summary
      pfam15462
      Location:27241
      Barttin; Bartter syndrome, infantile, with sensorineural deafness (Barttin)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      106340653..106349440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)