BSND

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)
End	55,017,172 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	106,349,480 bp
RNA expression pattern
	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
	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
	7809
	140475
	ENSG00000162399
	ENSMUSG00000025418
	Q8WZ55
	Q8VIM4
	NM_057176
	NM_080458
	NP_476517
	NP_536706
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162399 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025418 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "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.

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.
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.
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.
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.
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.
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.
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. S2CID 24786634.
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.
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162399 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "BSND barttin CLCNK type accessory subunit beta [ Homo sapiens (human) ]".

[5]

BSND

References

External links

Further reading