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

    Gene ID: 7809, updated on 28-Oct-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See BSND in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378736 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:55462851-55463835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1070 Neighboring gene transmembrane protein 61 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55466287-55466787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55484247-55484747 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:55488329-55488955 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:55493259-55493762 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:55493763-55494266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:55494267-55494770 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:55501658-55501847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55509121-55509622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55509623-55510122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:55514655-55515210 Neighboring gene proprotein convertase subtilisin/kexin type 9 Neighboring gene ubiquitin specific peptidase 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 929

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC119283, MGC119284, MGC119285

    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

    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)

    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.

    Genomic

    1. NG_008965.2 RefSeqGene

      Range
      5001..23240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1282

    mRNA and Protein(s)

    1. NM_057176.3NP_476517.1  barttin

      See identical proteins and their annotated locations for NP_476517.1

      Status: REVIEWED

      Source sequence(s)
      AK129999, AL589790, AL590440, AY034632
      Consensus CDS
      CCDS602.1
      UniProtKB/Swiss-Prot
      Q6NT28, Q8WZ55
      UniProtKB/TrEMBL
      Q5VU50
      Related
      ENSP00000498282.1, ENST00000651561.1
      Conserved Domains (1) summary
      pfam15462
      Location:27251
      Barttin; Bartter syndrome, infantile, with sensorineural deafness (Barttin)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      54998933..55017172
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      54879168..54898082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)