BSND

Protein-coding gene in the species Homo sapiens

BSND

Identifiers
Aliases| BSND, BART, DFNB73, barttin CLCNK type accessory beta subunit, barttin CLCNK type accessory subunit beta
External IDs| OMIM: 606412; MGI: 2153465; HomoloGene: 14291; GeneCards: BSND; OMA:BSND - orthologs
| Gene location (Human)

Chr.| Chromosome 1 (human)[1]

Band| 1p32.3| Start| 54,998,933 bp[1]
End| 55,017,172 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 4 (mouse)[2]

Band| 4|4 C7| Start| 106,340,653 bp[2]
End| 106,349,480 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* renal medulla

* human kidney

* mucosa of nose

* gonad

* thigh

* muscle of thigh

* olfactory zone of nasal mucosa

* mouth

* blood

* salivary gland

| Top expressed in

* right kidney

* embryo

* thin ascending limb of loop of Henle

* outer renal medulla

* human kidney

* stria vascularis

* inner stripe of outer renal medulla

* embryo

* parotid gland

* vestibular sensory epithelium

More reference expression data
BioGPS| | n/a

| Gene ontology

Molecular function|

* chloride channel regulator activity
* chloride channel activity
* voltage-gated chloride channel activity

Cellular component|

* cytoplasm
* integral component of membrane
* plasma membrane
* basolateral plasma membrane
* integral component of plasma membrane
* membrane
* protein-containing complex

Biological process|

* ion transmembrane transport
* chloride transport
* chloride transmembrane transport

Sources:Amigo / QuickGO
| Orthologs

Species| Human| Mouse
Entrez| |

7809

140475

Ensembl| |

ENSG00000162399

ENSMUSG00000025418

UniProt| |

Q8WZ55

Q8VIM4

RefSeq (mRNA)| |

NM_057176

NM_080458

RefSeq (protein)| |

NP_476517

NP_536706

Location (UCSC)| Chr 1: 55 – 55.02 Mb| Chr 4: 106.34 – 106.35 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[5]

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.[5]

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162399 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025418 - Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ a b "BSND barttin CLCNK type accessory subunit beta [ Homo sapiens (human) ]".

## External links

[edit]

* Human BSND genome location and BSND gene details page in the UCSC Genome Browser.

## Further reading

[edit]

* Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310–4\. doi:10.1038/ng752. PMID 11687798. S2CID 5892001.310-4&rft.date=2001&rft_id=https://api.semanticscholar.org/CorpusID:5892001#id-name=S2CID&rft_id=info:pmid/11687798&rft_id=info:doi/10.1038/ng752&rft.aulast=Birkenhäger&rft.aufirst=R&rft.au=Otto,+E&rft.au=Schürmann,+MJ&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Estévez R, Boettger T, Stein V, et al. (2001). "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion". Nature. 414 (6863): 558–61\. Bibcode:2001Natur.414..558E. doi:10.1038/35107099. PMID 11734858. S2CID 4407807.558-61&rft.date=2001&rft_id=info:doi/10.1038/35107099&rft_id=https://api.semanticscholar.org/CorpusID:4407807#id-name=S2CID&rft_id=info:pmid/11734858&rft_id=info:bibcode/2001Natur.414..558E&rft.aulast=Estévez&rft.aufirst=R&rft.au=Boettger,+T&rft.au=Stein,+V&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Waldegger S, Jeck N, Barth P, et al. (2003). "Barttin increases surface expression and changes current properties of ClC-K channels". Pflügers Arch. 444 (3): 411–8\. doi:10.1007/s00424-002-0819-8. PMID 12111250. S2CID 8546107.411-8&rft.date=2003&rft_id=https://api.semanticscholar.org/CorpusID:8546107#id-name=S2CID&rft_id=info:pmid/12111250&rft_id=info:doi/10.1007/s00424-002-0819-8&rft.aulast=Waldegger&rft.aufirst=S&rft.au=Jeck,+N&rft.au=Barth,+P&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903\. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.16899-903&rft.date=2003&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241#id-name=PMC&rft_id=info:pmid/12477932&rft_id=info:doi/10.1073/pnas.242603899&rft_id=info:bibcode/2002PNAS...9916899M&rft.aulast=Strausberg&rft.aufirst=RL&rft.au=Feingold,+EA&rft.au=Grouse,+LH&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Miyamura N, Matsumoto K, Taguchi T, et al. (2003). "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin". J. Clin. Endocrinol. Metab. 88 (2): 781–6\. doi:10.1210/jc.2002-021398. PMID 12574213. S2CID 28041186.781-6&rft.date=2003&rft_id=https://api.semanticscholar.org/CorpusID:28041186#id-name=S2CID&rft_id=info:pmid/12574213&rft_id=info:doi/10.1210/jc.2002-021398&rft.aulast=Miyamura&rft.aufirst=N&rft.au=Matsumoto,+K&rft.au=Taguchi,+T&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Hayama A, Rai T, Sasaki S, Uchida S (2004). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene". Histochem. Cell Biol. 119 (6): 485–93\. doi:10.1007/s00418-003-0535-2. PMID 12761627. S2CID 24080298.485-93&rft.date=2004&rft_id=https://api.semanticscholar.org/CorpusID:24080298#id-name=S2CID&rft_id=info:pmid/12761627&rft_id=info:doi/10.1007/s00418-003-0535-2&rft.aulast=Hayama&rft.aufirst=A&rft.au=Rai,+T&rft.au=Sasaki,+S&rft.au=Uchida,+S&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7\. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.2121-7&rft.date=2004&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928#id-name=PMC&rft_id=info:pmid/15489334&rft_id=info:doi/10.1101/gr.2596504&rft.aulast=Gerhard&rft.aufirst=DS&rft.au=Wagner,+L&rft.au=Feingold,+EA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Embark HM, Böhmer C, Palmada M, et al. (2005). "Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases". Kidney Int. 66 (5): 1918–25\. doi:10.1111/j.1523-1755.2004.00966.x. PMID 15496163.1918-25&rft.date=2005&rft_id=info:doi/10.1111/j.1523-1755.2004.00966.x&rft_id=info:pmid/15496163&rft.aulast=Embark&rft.aufirst=HM&rft.au=Böhmer,+C&rft.au=Palmada,+M&rft_id=https://doi.org/10.1111%2Fj.1523-1755.2004.00966.x&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* García-Nieto V, Flores C, Luis-Yanes MI, et al. (2006). "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families". Pediatr. Nephrol. 21 (5): 643–8\. doi:10.1007/s00467-006-0062-1. PMID 16572343. S2CID 24786634.643-8&rft.date=2006&rft_id=https://api.semanticscholar.org/CorpusID:24786634#id-name=S2CID&rft_id=info:pmid/16572343&rft_id=info:doi/10.1007/s00467-006-0062-1&rft.aulast=García-Nieto&rft.aufirst=V&rft.au=Flores,+C&rft.au=Luis-Yanes,+MI&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Ozlu F, Yapicioğlu H, Satar M, et al. (2006). "Barttin mutations in antenatal Bartter syndrome with sensorineural deafness". Pediatr. Nephrol. 21 (7): 1056–7\. doi:10.1007/s00467-006-0108-4. PMID 16773427. S2CID 13158377.1056-7&rft.date=2006&rft_id=https://api.semanticscholar.org/CorpusID:13158377#id-name=S2CID&rft_id=info:pmid/16773427&rft_id=info:doi/10.1007/s00467-006-0108-4&rft.aulast=Ozlu&rft.aufirst=F&rft.au=Yapicioğlu,+H&rft.au=Satar,+M&rft_id=https://boris.unibe.ch/20925/&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">
* Scholl U, Hebeisen S, Janssen AG, et al. (2006). "Barttin modulates trafficking and function of ClC-K channels". Proc. Natl. Acad. Sci. U.S.A. 103 (30): 11411–6\. Bibcode:2006PNAS..10311411S. doi:10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.11411-6&rft.date=2006&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1544099#id-name=PMC&rft_id=info:pmid/16849430&rft_id=info:doi/10.1073/pnas.0601631103&rft_id=info:bibcode/2006PNAS..10311411S&rft.aulast=Scholl&rft.aufirst=U&rft.au=Hebeisen,+S&rft.au=Janssen,+AG&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1544099&rfr_id=info:sid/en.wikipedia.org:BSND" class="Z3988">

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