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Aliases & Descriptions for BSND
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| BART 1, 2, 3 | | MGC119283 2 | | MGC119284 2 | | MGC119285 2 | | OTTHUMP00000009804 2 | | barttin 2 |
| | | Descriptions |
|---|
Bartter syndrome, infantile, with sensorineural deafness (Barttin) 2 |
|
| | Search outside databases for aliases for BSND genePrevious GC identifers: GC01P055301 GC01P054365 GC01P054822 GC01P054834 GC01P055176 |
Summaries for BSND(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, Q8WZ55Function: 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 cotransporterGene Wiki entry for BSND |
Genomic Location 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) About This Section
| 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: 1p32.3BSND 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
| Proteins for BSND
(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)
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: Q6NT28REFSEQ proteins: NP_476517.1
ENSEMBL proteins: ENSP00000360312
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for BSND: Assays for BSND: | Protein
Domains/ Families for BSND(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q8WZ55 | Gene Function for BSND
(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.)
About This Section
|               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 
              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, Q8WZ55Function: 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 cotransporter5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Bsnd):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005254 | contributes to chloride channel activity |
ISS | -- | | GO:0005515 | protein binding |
ISS | -- | About this table | Pathways & Interactions for BSND
(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
)About this table
|
Drugs & Compounds for BSND(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 Tocris compounds for BSND 4 Novoseek chemical compound relationships for BSND gene
About this table
|
Transcripts for BSND(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
|               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
|
Expression for BSND
(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 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, Q8WZ55Tissue specificity: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear |
Orthologs for BSND
(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 for BSND(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Pseudogenes
- 1 related pseudogene
|
SNPs/Variants for BSND(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for BSND (up to first 250kb)
|
Disorders & Mutations for BSND
(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 deafness9 Novoseek disease relationships for BSND gene
About this table
Human Gene Mutation Database: BSND Human Genome Epidemiology Navigator: BSND (3 documents)
|
Medical News for BSND(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for BSND (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
):- Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. (PubMed id 11687798)1, 2, 3, 4 Birkenhaeger R.... Hildebrandt F. (2001)
- Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. (PubMed id 11734858)1, 2, 3, 4 Estevez R....Jentsch T.J. (2001)
- Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. (PubMed id 12761627)1, 3, 4 Hayama A.... Uchida S. (2003)
- 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, 3, 4 Miyamura N.... Araki E. (2003)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Barttin increases surface expression and changes current properties of ClC-K channels. (PubMed id 12111250)3, 4 Waldegger S.... Seyberth H.W. (2002)
- Disease-causing dysfunctions of barttin in Bartter syndrome type IV. (PubMed id 18776122)1, 3 Janssen A.G....Fahlke C. (2009)
- Barttin modulates trafficking and function of ClC-K channels. (PubMed id 16849430)1, 3 Scholl U....Fahlke C. (2006)
- Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. (PubMed id 15496163)1, 3 Embark H.M....Lang F. (2004)
- Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. (PubMed id 18094726)1, 3 Kramer B.K....Waldegger S. (2008)
|
Search for BSND
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BSND
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing BSND
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BSND(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=BSND |
|
| | | About This Section
| --
| Services for BSND(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:

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| | Recombinant Proteins (BSND) | | Antibodies (BSND) |
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