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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BSND Gene

protein-coding   GIFtS: 54
GCID: GC01P055464

Bartter Syndrome, Infantile, With Sensorineural Deafness...

(Previous names: deafness, autosomal recessive 73)
(Previous symbol: DFNB73)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BSND

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WZ55

  • BSND Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BSND Protein Expression
    REFSEQ proteins: NP_476517.1  
    ENSEMBL proteins: 
     ENSP00000360312  
    Reactome Protein details: Q8WZ55
    Human Recombinant Protein Products for BSND: 
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    OriGene Protein Over-expression Lysate for BSND
    OriGene Custom MassSpec 
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    Novus Biologicals BSND Proteins
    Novus Biologicals BSND Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    BSND for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254contributes to chloride channel activity ISS--
    GO:0005515protein binding ----
    GO:0017081chloride channel regulator activity IEA--
         
    BSND for ontologies           About GeneDecksing


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

    BSND for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BSND 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BSND

       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 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BSND
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate BSND
    SwitchGear 3'UTR luciferase reporter plasmidBSND 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: BSND (NM_057176)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BSND
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSND
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                         Customized lentivirus expression plasmids for stable overexpression of BSND 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSND


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BSND About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for BSND
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport

    1 PharmGKB Pathway for BSND
        Diuretics Pathway, Pharmacodynamics


    BSND for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 3 biological process terms (GO ID links to tree view):    About this table

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

    BSND for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BSND for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about BSND

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BSND
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate BSND
    SwitchGear 3'UTR luciferase reporter plasmidBSND 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BSND
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BSND
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    GenScript: all cDNA clones in your preferred vector: BSND (NM_057176)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BSND
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSND
    Sirion Biotech Customized lentivirus for stable overexpression of BSND 
                         Customized lentivirus expression plasmids for stable overexpression of BSND 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BSND
    OriGene qSTAR qPCR primer pairs in human, mouse for BSND
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BSND
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BSND
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BSND

    Additional mRNA sequence: 

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

    2 DOTS entries:

    DT.75145434  DT.101977379 

    9 AceView cDNA sequences:

    AI301509 NM_057176 BC069510 AY034632 BX094486 AI823652 AI916510 AK129999 
    AI823955 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BSND expression in normal human tissues (normalized intensities)      BSND embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             seminal vesicle ; glandular cells   
     
     Kidney (Urinary System)
             kidney ; cells in tubules   
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Oral Cavity (Gastrointestinal Tract)
             salivary gland ; glandular cells   

    See BSND Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BSND

    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

        SABiosciences Custom PCR Arrays for BSND
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSND

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BSND gene from 4/10 species (see all 10)    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 76.58(n)1
    73.86(a)1
      4 (49.67 cM)5
    1404751  NM_080458.21  NP_536706.21 
     1064834565 
    chicken
    (Gallus gallus)
    Aves BSND1 Bartter syndrome, infantile, with sensorineural deafness more 55.9(n)
    41.92(a)
      424663  XM_422497.2  XP_422497.2 
    lizard
    (Anolis carolinensis)
    Reptilia BSND6
    Uncharacterized protein
    31(a)
    1 ↔ 1
    4(104327481-104334823)
    zebrafish
    (Danio rerio)
    Actinopterygii bsnd6
    Bartter syndrome, infantile, with sensorineural de...
    27(a)
    1 ↔ 1
    20(7418607-7426498)


    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)
    About This Section
    Paralogs for BSND gene

    BSND for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/348 SNPs in BSND are shown (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
    ----------
    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--------
    rs743152851,2,4
    CBartter syndrome 4A (BS4A)4 pathogenic155541284(+) CCTTCC/TGGATC 2 R W mis10--------
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 14 diseases for BSND:    About MalaCards
    hypokalemia    bartter syndrome type 4a    sensorineural deafness with mild renal dysfunction    gitelman syndrome
    bartter syndrome type 4    bartter disease    nephrogenic diabetes insipidus    polyhydramnios
    diabetes insipidus    nephrolithiasis    nonsyndromic deafness    sensorineural hearing loss
    essential hypertension    hypertension

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

    BSND for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for BSND gene, integrated from 9 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. (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. (2001)
    3. Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. (PubMed id 12761627)1, 2, 9 Hayama A.... Uchida S. (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. (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. (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. (2007)
    7. Molecular basis of DFNB73: mutations of BSND can caus e nonsyndromic deafness or Bartter syndrome. (PubMed id 19646679)1, 3, 9 Riazuddin S....Fahlke C. (2009)
    8. Functional BSND variants in essential hypertension. (PubMed id 17954364)1, 4, 9 Sile S....George A.L. (2007)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (2004)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BSND Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BSND

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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