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] See more...

Aliases for BSND Gene

Aliases for BSND Gene

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

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 Subunit Beta) is a Protein Coding gene. Diseases associated with BSND include Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness and Bartter Disease. Among its related pathways are Ion channel transport and Diuretics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include chloride channel activity and chloride channel regulator activity.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BSND Gene

Genomics for BSND Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BSND Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J054997 Enhancer 0.3 ENCODE 250.7 -1.1 -1110 0.2 EGR1 POLR2A BSND lnc-BSND-1 TMEM61
GH01J054994 Enhancer 0.3 CraniofacialAtlas 13.6 -4.4 -4405 0.4 ZNF18 lnc-BSND-1 BSND ENSG00000233271 TMEM61
GH01J055316 Enhancer 0.6 Ensembl 5.5 +318.9 318867 3.2 ZIC2 SOX5 NFIA ZNF644 SPI1 ZBTB26 SOX13 MNT NR2F2 TFE3 BSND HSALNG0003829 ENSG00000234810 piR-43107-011 MIR4422HG USP24
GH01J055314 Enhancer 0.5 Ensembl 5.7 +315.1 315068 1.6 FEZF1 ZNF629 OSR2 MNT KLF17 BSND HSALNG0003829 ENSG00000234810 piR-43107-011 MIR4422HG USP24
GH01J054996 Enhancer 0.8 ENCODE 0.7 -2.4 -2370 0.2 ZNF654 ZNF580 ZMYM3 ZBTB10 CTCF REST TRIM22 KLF7 MAX ZNF513 lnc-BSND-1 BSND TMEM61
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BSND on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BSND

Top Transcription factor binding sites by QIAGEN in the BSND gene promoter:
  • AP-4
  • c-Myc
  • GATA-1
  • HNF-4alpha1
  • HNF-4alpha2
  • LCR-F1
  • Max1
  • NF-kappaB1
  • Pax-2
  • Pax-2a

Genomic Locations for BSND Gene

Latest Assembly
chr1:54,998,933-55,017,172
(GRCh38/hg38)
Size:
18,240 bases
Orientation:
Plus strand

Previous Assembly
chr1:55,464,606-55,482,845
(GRCh37/hg19 by Entrez Gene)
Size:
18,240 bases
Orientation:
Plus strand

chr1:55,464,606-55,476,556
(GRCh37/hg19 by Ensembl)
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; Evidence={ECO:0000305};

neXtProt entry for BSND Gene

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:

Antibodies for research

  • Abcam antibodies for BSND
  • Boster Bio Antibodies for BSND

No data available for DME Specific Peptides for BSND Gene

Domains & Families for BSND Gene

Gene Families for BSND Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for BSND Gene

InterPro:

Suggested Antigen Peptide Sequences for BSND Gene

GenScript: Design optimal peptide antigens:
  • Barttin (BSND_HUMAN)
  • Bartter syndrome, infantile, with sensorineural deafness (Barttin) (Q5VU50_HUMAN)
genes like me logo Genes that share domains with BSND: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for BSND Gene

Gene Ontology (GO) - Molecular Function for BSND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 contributes_to chloride channel activity IEA,ISS --
GO:0005515 protein binding IPI 32296183
GO:0017081 chloride channel regulator activity IBA 21873635
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:
  • Bsnd Bsnd<tm1.1Tjj>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSND

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BSND gene
Compartment Confidence
plasma membrane 4
extracellular 3
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BSND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BSND: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BSND Gene

Pathways & Interactions for BSND Gene

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

Pathways by source for BSND Gene

Gene Ontology (GO) - Biological Process for BSND Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IBA 21873635
GO:0034220 ion transmembrane transport TAS --
GO:1902476 chloride transmembrane transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0

(3) Additional Compounds for BSND Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BSND: view

Transcripts for BSND Gene

mRNA/cDNA for BSND Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSND

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

No ASD Table

Relevant External Links for BSND Gene

GeneLoc Exon Structure for
BSND

Expression for BSND Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for BSND Gene



Protein tissue co-expression partners for BSND Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BSND

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.

Evidence on tissue expression from TISSUES for BSND Gene

  • Kidney(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BSND Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • ureter
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with BSND: view

Orthologs for BSND Gene

This gene was present in the common ancestor of chordates.

Orthologs for BSND Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BSND 29 30
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BSND 29 30
  • 83.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BSND 29 30
  • 82.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bsnd 29 16 30
  • 77.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bsnd 29
  • 75.79 (n)
Oppossum
(Monodelphis domestica)
Mammalia BSND 30
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BSND 30
  • 28 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BSND 30
  • 38 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BSND 30
  • 30 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bsnd 29
  • 44.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii bsnd 30
  • 27 (a)
OneToOne
Species where no ortholog for BSND was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for BSND: view image
Alliance of Genome Resources:
Additional Orthologs for BSND

Paralogs 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BSND Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
837720 Likely Pathogenic: not provided 55,005,117(+) G/T
NM_057176.3(BSND):c.272+1G>T
SPLICE_DONOR
858780 Pathogenic: not provided 55,007,194(+) G/A
NM_057176.3(BSND):c.470G>A (p.Trp157Ter)
NONSENSE
874343 Uncertain Significance: Bartter disease type 4a 55,007,030(+) G/T
NM_057176.3(BSND):c.306G>T (p.Trp102Cys)
MISSENSE
874344 Uncertain Significance: Bartter disease type 4a; not specified 55,007,117(+) G/T
NM_057176.3(BSND):c.393G>T (p.Leu131Phe)
MISSENSE
875268 Uncertain Significance: Bartter disease type 4a 55,008,300(+) A/G
NM_057176.3(BSND):c.635A>G (p.Asn212Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BSND Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv167n100 CNV gain 25217958
esv2431579 CNV insertion 19546169
esv7078 CNV gain 19470904
esv9677 CNV gain 19470904
nsv1142059 CNV tandem duplication 24896259
nsv817614 CNV gain 22305530

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)

Additional Variant Information for BSND Gene

Human Gene Mutation Database (HGMD)
BSND
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BSND
Leiden Open Variation Database (LOVD)
BSND

SNP Genotyping and Copy Number Assays for research

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

Disorders for BSND Gene

MalaCards: The human disease database

(27) MalaCards diseases for BSND Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
bartter syndrome, type 4a, neonatal, with sensorineural deafness
  • barts4a
bartter disease
  • aldosteronism with hyperplasia of the adrenal cortex
bartter syndrome type 4
  • bartter syndrome with sensorineural deafness
infantile bartter syndrome with sensorineural deafness
  • bartter syndrome type 4
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- 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, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522]: A form of Bartter syndrome, 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. BARTS4A is associated with sensorineural deafness. {ECO:0000269 PubMed:11687798, ECO:0000269 PubMed:12111250, ECO:0000269 PubMed:12574213, ECO:0000269 PubMed:12761627}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BSND

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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) Birkenhäger R … Hildebrandt F (Nature genetics 2001) 2 3 4 22 72
  2. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PMID: 11734858) Estévez R … Jentsch TJ (Nature 2001) 2 3 4 22 72
  3. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. (PMID: 12574213) Miyamura N … Araki E (The Journal of clinical endocrinology and metabolism 2003) 3 4 22 72
  4. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (PMID: 19646679) Riazuddin S … Fahlke C (American journal of human genetics 2009) 2 3 22
  5. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. (PMID: 18776122) Janssen AG … Fahlke C (Journal of the American Society of Nephrology : JASN 2009) 3 22 72

Products for BSND Gene

Sources for BSND Gene