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 in the kidney and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.[5]

## BSND as a Diagnostic Marker

[edit]

BSND is a key diagnostic marker in differentiating the chromophobe renal cell carcinoma (chRCC) from other types of RCC. chRCC is a type of kidney cancer that presents in the cell lining of the small tubules in the kidney.[6] RNA-sequence data from The Cancer Genome Atlas revealed that BSND was one of three genes (alongside ATP6V1G3) with high RNA expression in chRCC. Strong, diffuse expression of BSND was observed in chRCC but not in clear cell RCC or papillary RCC. Additionally, BSND expression was found to correlate with lower DNA methylation near the transcription start site, indicating the presence of epigenetic regulation. This expression reveals BSND's potential to serve as a major immunohistochemical marker for distinguishing chRCC from other forms of RCC.[7]

BSND immunohistochemistry is also pivotal in differentiating oncocytic and Warthin-like MECs in salivary gland neoplasms. Greater than 10% BSND positivity helps distinguish Warthin tumors from Warthin-like MECs and greater than 20% BSND positivity helps distinguish oncocytomas from oncocytic MECs.[8]

## 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) ]".
6. ^ Meskawi M, Sun M, Ismail S, Bianchi M, Hansen J, Tian Z, Hanna N, Trinh QD, Graefen M, Montorsi F, Perrotte P, Karakiewicz PI (August 2013). "Fuhrman grade [corrected] has no added value in prediction of mortality after partial or [corrected] radical nephrectomy for chromophobe renal cell carcinoma patients". Modern Pathology. 26 (8): 1144–1149 - via PubMed.`{{cite journal}}`: CS1 maint: multiple names: authors list (link)
7. ^ Kazuya Shinmura, MD, PhD, Hisaki Igarashi, Hisami Kato, Kenji Koda, MD, PhD, Hiroshi Ogawa, MD, PhD, Seishiro Takahashi, MD, PhD, Yoshiro Otsuki, MD, PhD, Tatsuaki Yoneda, MD, PhD, Yuichi Kawanishi, PhD, Kazuhito Funai, MD, PhD, Tatsuya Takayama, MD, PhD, Seiichiro Ozono, MD, PhD, and Haruhiko Sugimura, MD, PhD (Jun 19, 2015). "BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma". Medicine (Baltimore). 94 (24): 1–10 - via PubMed Central.`{{cite journal}}`: CS1 maint: multiple names: authors list (link)
8. ^ Bin Xu, Achim Jungbluth, Denise Frosina, Anas Alabkaa, Rene Serrette, Howard Qin, Dibisha Roy, Ronald Ghossein, Nora Katabi (November 26, 2024). "The Utility of BSND Immunohistochemistry in the Differential Diagnosis of Oncocytic and Warthin-like Mucoepidermoid Carcinoma of Salivary Gland". Head and Neck Pathology. 18 (123): 1–6 - via Springer Nature.`{{cite journal}}`: CS1 maint: multiple names: authors list (link)

## Further reading

[edit]

* Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. (Nov 2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nature Genetics. 29 (3): 310–314\. doi:10.1038/ng752. PMID 11687798. S2CID 5892001.
* Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, et al. (Nov 2001). "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion". Nature. 414 (6863): 558–561\. Bibcode:2001Natur.414..558E. doi:10.1038/35107099. PMID 11734858. S2CID 4407807.
* Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, et al. (Jun 2002). "Barttin increases surface expression and changes current properties of ClC-K channels". Pflugers Archiv : European Journal of Physiology. 444 (3): 411–418\. doi:10.1007/s00424-002-0819-8. PMID 12111250. S2CID 8546107.
* Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, et al. (Feb 2003). "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin". The Journal of Clinical Endocrinology and Metabolism. 88 (2): 781–786\. doi:10.1210/jc.2002-021398. PMID 12574213. S2CID 28041186.
* Hayama A, Rai T, Sasaki S, Uchida S (Jun 2003). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene". Histochemistry and Cell Biology. 119 (6): 485–493\. doi:10.1007/s00418-003-0535-2. PMID 12761627. S2CID 24080298.
* Embark HM, Bohmer C, Palmada M, Rajamanickam J, Wyatt AW, Wallisch S, et al. (Nov 2004). "Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases". Kidney International. 66 (5): 1918–1925\. doi:10.1111/j.1523-1755.2004.00966.x. PMID 15496163.
* Garcia-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martin F (May 2006). "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families". Pediatric Nephrology. 21 (5). Berlin, Germany: 643–648\. doi:10.1007/s00467-006-0062-1. PMID 16572343. S2CID 24786634.
* Ozlu F, Yapicioglu H, Satar M, Narli N, Ozcan K, Buyukcelik M, et al. (Jul 2006). "Barttin mutations in antenatal Bartter syndrome with sensorineural deafness". Pediatric Nephrology. 21 (7). Berlin, Germany: 1056–1057\. doi:10.1007/s00467-006-0108-4. PMID 16773427. S2CID 13158377.
* Scholl U, Hebeisen S, Janssen AG, Muller-Newen G, Alekov A, Fahlke C (Jul 2006). "Barttin modulates trafficking and function of ClC-K channels". Proceedings of the National Academy of Sciences of the United States of America. 103 (30): 11411–11416\. Bibcode:2006PNAS..10311411S. doi:10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.

## External links

[edit]

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

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