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

BSND Gene

protein-coding   GIFtS: 53
GCID: GC01P055464

Bartter syndrome, infantile, with sensorineural deafness...

(Previous names: deafness, autosomal recessive 73 )
(Previous symbol: DFNB73)
 Explore 15 diseases affiliated with
BSND via
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 Human Malady Compendium 
Biological research products
for BSND    

Aliases
for BSND gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Bartter Syndrome, Infantile, With Sensorineural Deafness (Barttin)1 2
BART1 2 3
DFNB731 2
Deafness, Autosomal Recessive 731 2
Barttin1

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


Summaries
for BSND gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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 plasmid: BSND 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

Proteins
for BSND gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WZ55

    • BSND Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_476517.1  
    ENSEMBL proteins: 
     ENSP00000360312  
    Reactome Protein details: Q8WZ55
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: BSND
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    Novus Biologicals BSND Protein
    Novus Biologicals BSND Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BSND

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    BSND for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BSND gene

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

    ProtoNet protein and cluster: Q8WZ55


    Function
    for BSND gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BSND
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    SwitchGear 3'UTR luciferase reporter plasmid: BSND 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BSND (see all 7)
    OriGene shRNA RFP: BSND
    OriGene siRNA: BSND
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BSND

    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 2 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:0017081chloride channel regulator activity IEA--


    BSND for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for BSND gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    		Ion channel transport1.00
    		Stimuli-sensing channels0.49
    2Diuretics Pathway, Pharmacodynamics
    		Diuretics Pathway, Pharmacodynamics1.00
    3SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport ----


    BSND for ontologies           About GeneDecksing



    Drugs & Compounds
    for BSND gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for BSND gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    SwitchGear 3'UTR luciferase reporter plasmid: BSND 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BSND (see all 7)
    OriGene shRNA RFP: BSND
    OriGene siRNA: BSND
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BSND
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSND 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BSND
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BSND

    Additional cDNA 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 AY034632 AI823652 BX094486 BC069510 AI916510 AI823955 
    AK129999 

    GeneLoc Exon Structure


    Expression
    for BSND gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAGGGAGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BSND expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
    Assay Products:     
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    Orthologs
    for BSND gene

    (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
    		 --
    		 33(a)
    		 1 ↔ 1
    		 4(104327481-104334823)
    zebrafish
    (Danio rerio)    		 Actinopterygii bsnd6
    		 Bartter syndrome, infantile, with sensorineural de...
    		 26(a)
    		 1 ↔ 1
    		 20(7418607-7426498)


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

    Paralogs
    for BSND gene

    (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


    Genomic Variants
    for BSND gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/273 NCBI SNPs in BSND are shown (see all 273)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743152861,2
    		Cpathogenic55464862(+) GCCATA/GGCTGA 2 I M mis10--------
    rs1219081451,2
    		C,pathogenic55464869(+) CTGACA/G/TAGAAG 3 K E * mis1 stg10--------
    rs743152851,2
    		C,pathogenic55464881(+) CCTTCC/TGGATC 2 R W mis10--------
    rs743152881,2
    		Cpathogenic55464882(+) CTTCCA/G/TGATCG 3 Q R L mis11NA 4552
    rs743152871,2
    		Cpathogenic55464887(+) GGATCA/GGCTTC 2 S G mis10--------
    rs743152891,2
    		Cpathogenic55464998(+) TGATCG/AGGGGC 2 /R /G mis11Minor allele frequency- A:0.00NA 4550
    rs1453912091,2
    		--55462672(+) CATGGA/GGCTGG 1 -- us2k10--------
    rs1165162441,2
    		F,--55462740(+) CCCCTG/ACCACT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1120597511,2
    		--55462873(+) GCGGCC/GCACGA 1 -- us2k12Minor allele frequency- G:0.12CSA WA 120
    rs1491922821,2
    		--55462908(+) AGACCA/GTTCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BSND (55464606 - 55476556 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for BSND
         2 Indels: 63006 97357
    Human Gene Mutation Database (HGMD): BSND

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BSND
    DNA2.0 Custom Variant and Variant Library Synthesis for BSND

    Disorders / Diseases
    for BSND gene

    (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.)
    About This Section
    BSND for disorders           About GeneDecksing

    OMIM gene information: 606412   
    OMIM disorders: 602522  
    UniProtKB/Swiss-Prot: BSND_HUMAN, Q8WZ55
  • Defects in BSND are the cause of Bartter syndrome type 4A (BS4A) [MIM:602522]; also known as infantile Bartter
    • syndrome with sensorineural deafness. BS refers to a group of autosomal recessive disorders characterized by impaired
    salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis,
    and varying degrees of hypercalciuria. BS4A is associated with sensorineural deafness

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

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

    9 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: BSND (6 documents)

    Export disorders for BSND gene to outside databases

    Publications
    for BSND gene

    (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 48):
    (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. 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)
    6. 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)
    7. Barttin increases surface expression and changes current properties of ClC-K channels. (PubMed id 12111250)1, 2 Waldegger S.... Seyberth H.W. (2002)
    8. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. (PubMed id 18776122)1, 9 Janssen A.G....Fahlke C. (2009)
    9. Barttin modulates trafficking and function of ClC-K channels. (PubMed id 16849430)1, 9 Scholl U....Fahlke C. (2006)
    10. Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. (PubMed id 15496163)1, 9 Embark H.M....Lang F. (2004)

    External Searches for BSND gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing BSND gene

    (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

    Other Databases showing BSND gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BSND gene

    (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

    Intellectual Property
    for BSND gene

    (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:
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