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

Gene ID: 7809, updated on 13-Feb-2019

Summary

Official Symbol
BSNDprovided by HGNC
Official Full Name
barttin CLCNK type accessory beta subunitprovided by HGNC
Primary source
HGNC:HGNC:16512
See related
Ensembl:ENSG00000162399 MIM:606412
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

Genomic context

See BSND in Genome Data Viewer
Location:
1p32.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (54998944..55008792)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55464617..55474465)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378736 Neighboring gene transmembrane protein 61 Neighboring gene proprotein convertase subtilisin/kexin type 9 Neighboring gene ubiquitin specific peptidase 24

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bartter syndrome type 4
MedGen: C1865270 OMIM: 602522 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
 
chloride channel regulator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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 chloride channel accessory beta subunit
deafness, autosomal recessive 73

NCBI Reference Sequences (RefSeq)

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)

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
    Q8WZ55
    UniProtKB/TrEMBL
    Q5VU50
    Related
    ENSP00000360312.4, ENST00000371265.5
    Conserved Domains (1) summary
    pfam15462
    Location:27251
    Barttin; Bartter syndrome, infantile, with sensorineural deafness (Barttin)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    54998944..55008792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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