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BSND Gene

protein-coding   GIFtS: 54
GCID: GC01P055464

Bartter Syndrome, Infantile, With Sensorineural Deafness...

(Previous names: deafness, autosomal recessive 73)
(Previous symbol: DFNB73)
  See BSND-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bartter Syndrome, Infantile, With Sensorineural Deafness (Barttin)1 2
DFNB731 2
Deafness, Autosomal Recessive 731 2
BART2 3
barttin2

External Ids:    HGNC: 165121   Entrez Gene: 78092   Ensembl: ENSG000001623997   OMIM: 6064125   UniProtKB: Q8WZ553   

Export aliases for BSND gene to outside databases

Previous GC identifers: GC01P055301 GC01P054365 GC01P054822 GC01P054834 GC01P055176 GC01P055237 GC01P053578


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (Bartter syndrome, infantile, with sensorineural deafness (Barttin)) is a protein-coding gene. Diseases associated with BSND include hypokalemia, and bartter syndrome type 4a. GO annotations related to this gene include chloride channel activity and chloride channel regulator activity.

UniProtKB/Swiss-Prot: BSND_HUMAN, Q8WZ55
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 Wiki entry for BSND Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BSND gene promoter:
         Max1   Pax-2   AP-4   Pax-2a   HNF-4alpha2   LCR-F1   GATA-1   HNF-4alpha1   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBSND promoter sequence
   Search Chromatin IP Primers for BSND

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BSND


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.1   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

BSND Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BSND gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P055464:  view genomic region     (about GC identifiers)

Start:
55,464,606 bp from pter      End:
55,476,556 bp from pter
Size:
11,951 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BSND_HUMAN, Q8WZ55 (See protein sequence)
Recommended Name: Barttin  
Size: 320 amino acids; 35197 Da
Subunit: 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)
Sequence caution: Sequence=BC069510; Type=Frameshift; Positions=Several;
Secondary accessions: Q6NT28

Explore the universe of human proteins at neXtProt for BSND: NX_Q8WZ55

Explore proteomics data for BSND at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BSND Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_476517.1  
    ENSEMBL proteins: 
     ENSP00000360312  
    Reactome Protein details: Q8WZ55

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q8WZ55


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BSND_HUMAN, Q8WZ55
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254contributes to chloride channel activity ISS--
    GO:0005515protein binding ----
    GO:0017081chloride channel regulator activity IEA--
         
    Find genes that share ontologies with BSND           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bsnd):
     behavior/neurological  cardiovascular system  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  mortality/aging  nervous system  renal/urinary system 

    Find genes that share phenotypes with BSND           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bsndtm1.1Tjj for BSND

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BSND
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BSND
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BSND

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BSND_HUMAN, Q8WZ55: Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity).
    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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0016323basolateral plasma membrane ISS--
    GO:0043234protein complex ISS--

    Find genes that share ontologies with BSND           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BSND About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics


    Find genes that share SuperPaths with BSND           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for BSND
        Stimuli-sensing channels

    1 PharmGKB Pathway for BSND
        Diuretics Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BSND
    Interactions:

        GeneGlobe Interaction Network for BSND

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BSND (Q8WZ552, 3 ENSP000003603124) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARL2P364042, 3, ENSP000002467474MINT-6602213 I2D: score=1 STRING: ENSP00000246747
    ARL3P364052, 3, ENSP000002607464MINT-6602239 I2D: score=1 STRING: ENSP00000260746
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport ----
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--
    GO:1902476chloride transmembrane transport ISS--

    Find genes that share ontologies with BSND           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BSND

    1 HMDB Compound for BSND    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    6 Novoseek inferred chemical compound relationships for BSND gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 77.3 26 12574213 (2), 19646679 (2), 11734858 (1), 14694153 (1) (see all 18)
    nacl 49.2 3 17954364 (1), 17510212 (1), 17670895 (1)
    potassium 47.7 9 11734858 (1), 17872384 (1), 17855824 (1), 12920401 (1) (see all 7)
    furosemide 43.2 4 15283765 (1)
    sodium 8.96 2 15252040 (1)
    calcium 2.1 1 18446382 (1)



    Find genes that share compounds with BSND           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BSND gene: 
    NM_057176.2  

    Unigene Cluster for BSND:

    Bartter syndrome, infantile, with sensorineural deafness (Barttin)
    Hs.151291  [show with all ESTs]
    Unigene Representative Sequence: AY034632
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371265(uc001cye.3)
    miRNA
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    Additional mRNA sequence: 

    AY034632.1 BC069510.1 BC103898.1 BC103899.1 BC103900.1 

    2 DOTS entries:

    DT.75145434  DT.101977379 

    9 AceView cDNA sequences:

    NM_057176 AI301509 BC069510 BX094486 AI823652 AY034632 AI916510 AI823955 
    AK129999 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BSND expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAGGGAGGA
    BSND Expression
    About this image


    BSND expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
    BSND Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BSND Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.151291

    UniProtKB/Swiss-Prot: BSND_HUMAN, Q8WZ55
    Tissue specificity: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria
    vascularis of the inner ear

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BSND gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bsnd1 , 5 Bartter syndrome, infantile, with sensorineural deafness more1, 5 77.02(n)1
    74.18(a)1
      4 (49.67 cM)5
    1404751  NM_080458.21  NP_536706.21 
     1064834565 
    chicken
    (Gallus gallus)
    Aves BSND6
    Bartter syndrome, infantile, with sensorineural de...
    38(a)
    1 ↔ 1
    8(24177461-24179735)
    lizard
    (Anolis carolinensis)
    Reptilia BSND6
    Bartter syndrome, infantile, with sensorineural de...
    30(a)
    1 ↔ 1
    4(104327481-104334823)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bsnd1 Bartter syndrome, infantile, with sensorineural deafness more 44.78(n)
    33.33(a)
      100491195  XM_002931465.2  XP_002931511.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bsnd6
    Bartter syndrome, infantile, with sensorineural de...
    27(a)
    1 ↔ 1
    20(7418607-7426498) ENSDARG00000086265


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BSND gene

    Find genes that share paralogs with BSND           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for BSND
    PGOHUM00000247495 PGOHUM00000247618 PGOHUM00000247622 PGOHUM00000233300


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BSND (see all 348)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs743152851,2,,4
    CBartter syndrome 4A (BS4A)4 pathogenic155541284(+) CCTTCC/TGGATC 2 R W mis10--------
    VAR_0197864
    Bartter syndrome 4A (BS4A)4--see VAR_0197862 G R mis40--------
    VAR_0197854
    Bartter syndrome 4A (BS4A)4--see VAR_0197852 G S mis40--------
    VAR_0197834
    Bartter syndrome 4A (BS4A)4--see VAR_0197832 R L mis40--------
    rs743152841,2
    Cpathogenic155541263(+) CAGCCA/TTGGCT 2 M L mis10--------
    rs743152861,2
    Cpathogenic155541265(+) GCCATA/GGCTGA 2 I M mis10--------
    rs1219081451,2
    Cpathogenic155541272(+) CTGACA/G/TAGAAG 2 E * stg10--------
    rs743152881,2
    Cpathogenic155541285(+) CTTCCA/G/TGATCG 2 R L mis11NA 4552
    rs743152871,2
    Cpathogenic155541290(+) GGATCA/GGCTTC 2 S G mis10--------
    rs743152891,2
    Cpathogenic155541401(+) TGATCG/AGGGGC 2 /R /G mis11Minor allele frequency- A:0.00NA 4550

    HapMap Linkage Disequilibrium report for BSND (55464606 - 55476556 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BSND:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2431579CNV Insertion19546169
    nsv817614CNV Gain22305530

    Human Gene Mutation Database (HGMD): BSND
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BSND
    DNA2.0 Custom Variant and Variant Library Synthesis for BSND

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606412   
    OMIM disorders: 602522  
    UniProtKB/Swiss-Prot: BSND_HUMAN, Q8WZ55
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for BSND:    
    About MalaCards
    hypokalemia    bartter syndrome type 4a    acute diffuse nephritis    sensorineural deafness with mild renal dysfunction
    bartter disease    nephrogenic diabetes insipidus    gitelman syndrome    polyhydramnios
    deafness, autosomal recessive 76

    5 diseases from the University of Copenhagen DISEASES database for BSND:
    Bartter disease     Sensorineural hearing loss     Polyhydramnios     Gitelman syndrome
    Hypokalemia

    Find genes that share disorders with BSND           About GenesLikeMe

    9 Novoseek inferred disease relationships for BSND gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bartters syndrome 96.1 37 12761627 (5), 16328537 (3), 18776122 (2), 18843510 (2) (see all 19)
    deafness sensorineural 89.1 15 11687798 (2), 12574213 (1), 16328537 (1), 18094726 (1) (see all 10)
    gitelman syndrome 84.5 1 15980941 (1)
    congenital deafness 79.5 3 12574213 (2)
    hypercalciuria 75.1 2 18843510 (1)
    hypokalemia 55.1 1 17275579 (1)
    renal failure chronic 42.1 1 19096086 (1)
    renal failure 25.4 3 11687798 (2), 19646679 (1)
    hypotension 21.8 1 15980941 (1)

    Genetic Association Database (GAD): BSND
    Human Genome Epidemiology (HuGE) Navigator: BSND (6 documents)

    Export disorders for BSND gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BSND gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with BSND)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. (PubMed id 11687798)1, 2, 3, 9 Birkenhaeger R.... Hildebrandt F. (Nat. Genet. 2001)
    2. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PubMed id 11734858)1, 2, 3, 9 Estevez R.... Jentsch T.J. (Nature 2001)
    3. Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. (PubMed id 12761627)1, 2, 9 Hayama A.... Uchida S. (Histochem. Cell Biol. 2003)
    4. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. (PubMed id 12574213)1, 2, 9 Miyamura N.... Araki E. (J. Clin. Endocrinol. Metab. 2003)
    5. Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. (PubMed id 17652939)1, 4, 9 Sile S....Williams S.M. (Hum. Hered. 2008)
    6. Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. (PubMed id 17510212)1, 4, 9 Barlassina C....Cusi D. (Hum. Mol. Genet. 2007)
    7. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (PubMed id 19646679)1, 3, 9 Riazuddin S....Fahlke C. (Am. J. Hum. Genet. 2009)
    8. Functional BSND variants in essential hypertension. (PubMed id 17954364)1, 4, 9 Sile S....George A.L. (Am. J. Hypertens. 2007)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7809 HGNC: 16512 AceView: BSND Ensembl:ENSG00000162399 euGenes: HUgn7809
    ECgene: BSND H-InvDB: BSND

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BSND Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BSND[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BSND gene:
    Search GeneIP for patents involving BSND

    GeneCards and IP:
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