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BSND Gene

protein-coding   GIFtS: 54

GC01P055237
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BART 1, 2, 3
MGC119283 2
MGC119284 2
MGC119285 2
OTTHUMP00000009804 2
barttin 2
Descriptions
Bartter syndrome, infantile, with sensorineural deafness
(Barttin) 2
External Ids
HGNC: 165121
Entrez Gene: 78092
UniProtKB: Q8WZ553
Ensembl: ENSG000001623997
Search outside databases for aliases for BSND gene

Previous GC identifers: GC01P055301 GC01P054365 GC01P054822 GC01P054834 GC01P055176

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the BSND gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P055237:     (about GC identifiers)

Start:
55,237,205 bp from pter
End:
55,247,053 bp from pter
Size:
9,849 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_032977.8  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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)
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

REFSEQ proteins: NP_476517.1  

ENSEMBL proteins: 
ENSP00000360312 


Human Recombinant Proteins 
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Recombinant Proteins from Abcam (BSND)
Human Recombinant Proteins from Abnova (BSND)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
GO:0005886 plasma membrane IEA--
GO:0005887 integral to plasma membrane ISS--
GO:0016323 basolateral plasma membrane ISS--
GO:0043234 protein complex ISS--
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Antibodies for BSND: 
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Sigma-Aldrich Antibodies for BSND
Browse R&D Systems for Antibodies
Antibodies from Abcam (BSND), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (BSND)
Novus Biologicals Antibodies for BSND

Assays for BSND: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

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

ProtoNet protein and cluster: Q8WZ55

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (BSND)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_057176

              Applied Biosystems Silencer® siRNAs for BSND

              Sigma-Aldrich siRNA for BSND  
                     Sigma-Aldrich shRNA for BSND  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for BSND
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_057176
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_057176
                                 untagged cDNA clone in CMV expression vector: NM_057176 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_057176

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

5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bsnd):

behavior/neurologicalhearing/vestibular/earhomeostasis/metabolismlethality-postnatalnervous system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005254contributes to chloride channel activity ISS--
GO:0005515 protein binding ISS--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  BSND 


5/13 Interacting proteins for BSND (Q8WZ552 ENSP000003603123) via UniProtKB, MINT, and/or STRING (see all 13 )
InteractantInteraction Details
GeneCardExternal ID(s)
ARL2P364042MINT-6602213
ARL3P364052MINT-6602239
CLCNKBENSP000003648313STRING (score=.993)
KCNJ1ENSP000003161363STRING (score=.964)
SLC12A3ENSP000002625023STRING (score=.958)
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BSND
4 Novoseek chemical compound relationships for BSND gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
chloride 76.80 23 12574213 (2), 11734858 (1), 14694153 (1), 15356851 (1) (see all 16)
nacl 50.36 3 17954364 (1), 17510212 (1), 17670895 (1)
potassium 45.89 8 11734858 (1), 17872384 (1), 17855824 (1), 12920401 (1) (see all 6)
sodium 10.18 2 15252040 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (BSND)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_057176

              Sigma-Aldrich siRNA for BSND  
                     Sigma-Aldrich shRNA for BSND  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_057176  

REFSEQ mRNAs for BSND gene: 

NM_057176.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_057176  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_057176
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_057176
                                 untagged cDNA clone in CMV expression vector: NM_057176 

Additional cDNA 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 AY034632 AI823652 BC069510 BX094486 AI916510 AK129999 
AI823955 

highest scoring ESTs for BSND:

AI823652 AI301509 AI823955 AI916510 AY034632 BC069510 AK129999 BX094486 NM_057176 BC103898 

Unigene Cluster for BSND:

Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Hs.151291  [show with all ESTs]
Unigene Representative Sequence: AY034632


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000371265  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BSND expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for BSND

1 / 2 / 3

3 probe-sets matching BSND gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
80784_at2, 3 U95-D 1 1.00 1.00 1.00 1.00 AI823652 1.00 1.00 1.00 1

1552548_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

1552549_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  BSND for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: ACAGGGAGGA

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for BSND gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
BSND1   -- Bartter syndrome, infantile, with sensorineural deafness more 97.74(n)
95.93(a)
740851  XM_001143070.1  XP_001143070.1 
cow
(Bos taurus)
BSND1   -- Bartter syndrome, infantile, with sensorineural deafness more 82.12(n)
75.71(a)
615670  XM_867537.1  XP_872630.1 
rat
(Rattus norvegicus)
Bsnd1   -- Bartter syndrome, infantile, with sensorineural deafness more 75.79(n)
73.29(a)
192675  NM_138979.2  NP_620435.1 
mouse
(Mus musculus)
Bsnd1, 5 45
Bartter syndrome, infantile, with sensorineural deafness more1, 5 76.58(n)1
73.86(a)1
1404751  NM_080458.21  NP_536706.21 
 AF3910885  AI1170615  (see all 9)
chicken
(Gallus gallus)
BSND1   -- Bartter syndrome, infantile, with sensorineural deafness more 55.9(n)
41.92(a)
424663  XM_422497.2  XP_422497.2 
About this table        Species with no ortholog for BSND

ENSEMBL Gene Tree for BSND
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Pseudogenes
1 related pseudogene


(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/59 NCBI SNPs in BSND are shown (see all 59 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 72)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs10037691,2
A,C,F,H,O55236448(-) ATTCAC/TACGCT 1 -- ng518Minor allele frequency- T:0.49EU EA WA NA 616
rs25003411,2
A,C,F,H,O55237378(+) TGTCTG/CGGTGT 1 -- ut51 ese315Minor allele frequency- C:0.42NA EU EA WA 1386
rs28641241,2
A,C,F,H,O55247267(-) GACTAT/CAAGAC 1 -- ng317Minor allele frequency- C:0.36NA EU EA WA 552
rs24794021,2
A,C,F,H,O55247526(-) GAGCAC/TGAATT 1 -- ng316Minor allele frequency- T:0.34EA WA NA 438
rs25003401,2
A,C,F,H,O55237331(+) AGCCTC/TGAGTT 1 -- ut5115Minor allele frequency- T:0.43NA EU EA WA 1400
rs25003391,2
A,C,F,H55237099(+) AAAGCG/CTTGGC 1 -- ng514Minor allele frequency- C:0.50EU EA WA 408
rs43398991,2
A,C,F,H55247064(+) GGACTC/GTTGTT 1 -- ng31 ese37Minor allele frequency- G:0.41EU EA WA NA 558
rs66828841,2
A,C,F,H55246913(+) CTTCTA/CGTCTG 1 -- ut31 ese311Minor allele frequency- C:0.36NA EU EA WA 970
--
rs10037671,2
A,C,F,O55236908(-) CATGTA/GCCTAT 1 -- ng513Minor allele frequency- G:0.48NA 142
rs121341181,2
C,F,H55247360(+) GCTCCT/CTGGCC 1 -- ng318Minor allele frequency- C:0.14EU EA WA 834
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HapMap Linkage Disequilibrium images for BSND (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606412   disorders: 602522  

UniProtKB/Swiss-Prot: BSND_HUMAN, Q8WZ55

  • Defects in BSND are the cause of Bartter syndrome type 4 (BS4) [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. BS4 is associated with sensorineural deafness
  • 9 Novoseek disease relationships for BSND gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    bartters syndrome 95.86 35 12761627 (5), 16328537 (3), 18776122 (2), 18843510 (2) (see all 17)
    deafness sensorineural 89.56 15 11687798 (2), 12574213 (1), 16328537 (1), 18094726 (1) (see all 10)
    gitelman syndrome 85.02 1 15980941 (1)
    congenital deafness 80.09 3 12574213 (2)
    hypercalciuria 72.89 2 18843510 (1)
    hypokalemia 56.19 1 17275579 (1)
    renal failure chronic 43.32 1 19096086 (1)
    hypotension 23.03 1 15980941 (1)
    renal failure 17.71 2 11687798 (2)
    About this table

    Human Gene Mutation Database: BSND
    Human Genome Epidemiology Navigator: BSND (3 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/40 PubMed articles for BSND gene (see all 40 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=BSND
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for BSND:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for BSND Antibodies for BSND
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