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

Gene ID: 7809, updated on 27-Nov-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
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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
  • 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)

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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.

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)