BSND

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

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
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 106,483,456 bp[2] End 106,492,283 bp[2]
Gene ontology Molecular function • chloride channel regulator activity • chloride channel activity • voltage-gated chloride channel activity Cellular component • cytoplasm • integral component of membrane • cell membrane • basolateral plasma membrane • integral component of plasma membrane • membrane • macromolecular 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: 106.48 – 106.49 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000162399 - Ensembl, May 2017
2. 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. "BSND barttin CLCNK type accessory subunit beta [ Homo sapiens (human) ]".

External links

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

Further reading

• 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.
• 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. doi:10.1038/35107099. PMID 11734858.
• 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.
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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. doi:10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.