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    Bsnd barttin CLCNK type accessory subunit beta [ Rattus norvegicus (Norway rat) ]

    Gene ID: 192675, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bsndprovided by RGD
    Official Full Name
    barttin CLCNK type accessory subunit betaprovided by RGD
    Primary source
    RGD:621139
    See related
    EnsemblRapid:ENSRNOG00000006543 AllianceGenome:RGD:621139
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables chloride channel regulator activity. Involved in chloride transport. Predicted to be located in plasma membrane. Predicted to be part of protein-containing complex. Predicted to be active in basolateral plasma membrane. 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 (RPKM 270.2) See more
    Orthologs
    NEW
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    Genomic context

    See Bsnd in Genome Data Viewer
    Location:
    5q34
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (126480590..126489389, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (121251774..121260571, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (126071849..126080647, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 24 Neighboring gene uncharacterized LOC134479024 Neighboring gene proprotein convertase subtilisin/kexin type 9 Neighboring gene transmembrane protein 61 Neighboring gene uncharacterized LOC120102943 Neighboring gene 24-dehydrocholesterol reductase

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Markers

    Clone Names

    • MGC93168

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    contributes_to chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables chloride channel regulator activity ISO
    Inferred from Sequence Orthology
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    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_138979.2NP_620435.1  barttin

      See identical proteins and their annotated locations for NP_620435.1

      Status: PROVISIONAL

      Source sequence(s)
      BC081725
      UniProtKB/Swiss-Prot
      Q8R2H3
      UniProtKB/TrEMBL
      A6JYM7
      Related
      ENSRNOP00000008739.3, ENSRNOT00000008739.7
      Conserved Domains (1) summary
      pfam15462
      Location:27242
      Barttin; Bartter syndrome, infantile, with sensorineural deafness (Barttin)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086023.1 Reference GRCr8

      Range
      126480590..126489389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063287151.1XP_063143221.1  barttin isoform X1