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

Gene ID: 192675, updated on 5-Mar-2024

Summary

Official Symbol
Bsndprovided by RGD
Official Full Name
barttin CLCNK type accessory subunit betaprovided by RGD
Primary source
RGD:621139
See related
Ensembl: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 part of protein-containing complex. Predicted to be active in basolateral plasma membrane. Predicted to be integral component of 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, Apr 2022]
Expression
Restricted expression toward (RPKM 270.2) See more
Orthologs
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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 
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 
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)

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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.

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, ENSRNOT00000008739.6
    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