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Aliases for BSND Gene

Aliases for BSND Gene

  • Barttin CLCNK Type Accessory Beta Subunit 2 3
  • Bartter Syndrome, Infantile, With Sensorineural Deafness (Barttin) 2 3
  • Barttin CLCNK-Type Chloride Channel Accessory Beta Subunit 3 5
  • Deafness, Autosomal Recessive 73 2 3
  • BART 3 4
  • DFNB73 3

External Ids for BSND Gene

Previous HGNC Symbols for BSND Gene

  • DFNB73

Previous GeneCards Identifiers for BSND Gene

  • GC01P055301
  • GC01P054365
  • GC01P054822
  • GC01P054834
  • GC01P055176
  • GC01P055237
  • GC01P055464
  • GC01P053578

Summaries for BSND Gene

Entrez Gene Summary for BSND Gene

  • 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]

GeneCards Summary for BSND Gene

BSND (Barttin CLCNK Type Accessory Beta Subunit) is a Protein Coding gene. Diseases associated with BSND include Bartter Syndrome, Type 4A and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Ion channel transport and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include chloride channel activity and chloride channel regulator activity.

UniProtKB/Swiss-Prot for BSND Gene

  • Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.

Gene Wiki entry for BSND Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BSND Gene

Genomics for BSND Gene

Regulatory Elements for BSND Gene

Enhancers for BSND Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BSND on UCSC Golden Path with GeneCards custom track

Genomic Location for BSND Gene

Chromosome:
1
Start:
54,998,933 bp from pter
End:
55,010,883 bp from pter
Size:
11,951 bases
Orientation:
Plus strand

Genomic View for BSND Gene

Genes around BSND on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BSND Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BSND Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BSND Gene

Proteins for BSND Gene

  • Protein details for BSND Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ55-BSND_HUMAN
    Recommended name:
    Barttin
    Protein Accession:
    Q8WZ55
    Secondary Accessions:
    • Q6NT28

    Protein attributes for BSND Gene

    Size:
    320 amino acids
    Molecular mass:
    35197 Da
    Quaternary structure:
    • Interacts with CLCNK channels. Forms heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments (By similarity).
    SequenceCaution:
    • Sequence=BC069510; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for BSND Gene

Proteomics data for BSND Gene at MOPED

Post-translational modifications for BSND Gene

  • Palmitoylation is necessary for activation of plasma membrane-inserted CLC-K/barttin channels.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BSND Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BSND Gene

Domains & Families for BSND Gene

Gene Families for BSND Gene

Protein Domains for BSND Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BSND Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BSND: view

No data available for UniProtKB/Swiss-Prot for BSND Gene

Function for BSND Gene

Molecular function for BSND Gene

UniProtKB/Swiss-Prot Function:
Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.

Gene Ontology (GO) - Molecular Function for BSND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005247 voltage-gated chloride channel activity TAS --
genes like me logo Genes that share ontologies with BSND: view
genes like me logo Genes that share phenotypes with BSND: view

Human Phenotype Ontology for BSND Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BSND Gene

MGI Knock Outs for BSND:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BSND Gene

Localization for BSND Gene

Subcellular locations from UniProtKB/Swiss-Prot for BSND Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BSND Gene COMPARTMENTS Subcellular localization image for BSND gene
Compartment Confidence
plasma membrane 5
extracellular 3
endoplasmic reticulum 2
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BSND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with BSND: view

Pathways & Interactions for BSND Gene

genes like me logo Genes that share pathways with BSND: view

Pathways by source for BSND Gene

Interacting Proteins for BSND Gene

Gene Ontology (GO) - Biological Process for BSND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with BSND: view

No data available for SIGNOR curated interactions for BSND Gene

Drugs & Compounds for BSND Gene

(3) Drugs for BSND Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for BSND Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with BSND: view

Transcripts for BSND Gene

mRNA/cDNA for BSND Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BSND Gene

Bartter syndrome, infantile, with sensorineural deafness (Barttin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BSND Gene

No ASD Table

Relevant External Links for BSND Gene

GeneLoc Exon Structure for
BSND
ECgene alternative splicing isoforms for
BSND

Expression for BSND Gene

mRNA expression in normal human tissues for BSND Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BSND Gene

This gene is overexpressed in Kidney - Cortex (x35.5).

Protein differential expression in normal tissues from HIPED for BSND Gene

This gene is overexpressed in Kidney (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BSND Gene



SOURCE GeneReport for Unigene cluster for BSND Gene Hs.151291

mRNA Expression by UniProt/SwissProt for BSND Gene

Q8WZ55-BSND_HUMAN
Tissue specificity: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.
genes like me logo Genes that share expression patterns with BSND: view

Protein tissue co-expression partners for BSND Gene

Primer Products

Orthologs for BSND Gene

This gene was present in the common ancestor of chordates.

Orthologs for BSND Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BSND 35
  • 82.12 (n)
  • 75.71 (a)
BSND 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BSND 35
  • 83.02 (n)
  • 77.19 (a)
BSND 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bsnd 35
  • 77.02 (n)
  • 74.18 (a)
Bsnd 16
Bsnd 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BSND 35
  • 99.06 (n)
  • 97.89 (a)
BSND 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bsnd 35
  • 75.79 (n)
  • 73.94 (a)
oppossum
(Monodelphis domestica)
Mammalia BSND 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BSND 36
  • 28 (a)
OneToOne
chicken
(Gallus gallus)
Aves BSND 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BSND 36
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bsnd 35
  • 44.78 (n)
  • 33.33 (a)
zebrafish
(Danio rerio)
Actinopterygii bsnd 36
  • 27 (a)
OneToOne
Species with no ortholog for BSND:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BSND Gene

ENSEMBL:
Gene Tree for BSND (if available)
TreeFam:
Gene Tree for BSND (if available)

Paralogs for BSND Gene

Pseudogenes.org Pseudogenes for BSND Gene

genes like me logo Genes that share paralogs with BSND: view

No data available for Paralogs for BSND Gene

Variants for BSND Gene

Sequence variations from dbSNP and Humsavar for BSND Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_019783 Bartter syndrome 4A (BS4A)
rs74315285 Bartter syndrome 4A (BS4A) 54,999,208(+) CCTTC(C/T)GGATC upstream-variant-2KB, reference, missense
VAR_019785 Bartter syndrome 4A (BS4A)
VAR_019786 Bartter syndrome 4A (BS4A)
rs34561376 - 54,999,313(-) CATGA(C/T)GCTGC upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BSND Gene

Variant ID Type Subtype PubMed ID
nsv817614 CNV Gain 22305530
esv2431579 CNV Insertion 19546169

Variation tolerance for BSND Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BSND Gene

Human Gene Mutation Database (HGMD)
BSND

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BSND Gene

Disorders for BSND Gene

MalaCards: The human disease database

(9) MalaCards diseases for BSND Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bartter syndrome, type 4a
  • sensorineural deafness with mild renal dysfunction
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
bartter syndrome type 4
  • bartter syndrome, type 4a
gitelman syndrome
  • hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
bartter disease
  • aldosteronism with hyperplasia of the adrenal cortex
- elite association - COSMIC cancer census association via MalaCards
Search BSND in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BSND_HUMAN
  • Bartter syndrome 4A (BS4A) [MIM:602522]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4 is associated with sensorineural deafness. {ECO:0000269 PubMed:11687798, ECO:0000269 PubMed:12574213}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BSND

Genetic Association Database (GAD)
BSND
Human Genome Epidemiology (HuGE) Navigator
BSND
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BSND
genes like me logo Genes that share disorders with BSND: view

No data available for Genatlas for BSND Gene

Publications for BSND Gene

  1. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. (PMID: 11687798) Birkenhaeger R. … Hildebrandt F. (Nat. Genet. 2001) 2 3 4 23 67
  2. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (PMID: 19646679) Riazuddin S. … Fahlke C. (Am. J. Hum. Genet. 2009) 2 3 23
  3. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PMID: 11734858) Estevez R. … Jentsch T.J. (Nature 2001) 2 3 23
  4. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. (PMID: 18776122) Janssen A.G. … Fahlke C. (J. Am. Soc. Nephrol. 2009) 3 23
  5. Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. (PMID: 18843510) Bircan Z. … Jeck N. (Pediatr. Nephrol. 2009) 3 23

Products for BSND Gene

Sources for BSND Gene

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