Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7809
MIM: 606412
HGNC: 16512
Ensembl: ENSG00000162399
Variants:
dbSNP: 7809
ClinVar: 7809
TCGA: ENSG00000162399
COSMIC: BSND
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162399 | ENST00000651561 | Q8WZ55 |
| ENSG00000162399 | ENST00000651561 | Q5VU50 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA26553 | CLCNKA | Gene | Pathway | associated | 23788015 | ||
| PA26554 | CLCNKB | Gene | Pathway | associated | 23788015 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32184353 | 2020 | DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels. | 5 |
| 32184353 | 2020 | DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels. | 5 |
| 28470573 | 2018 | BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors. | 3 |
| 29674316 | 2018 | Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin. | 5 |
| 28470573 | 2018 | BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors. | 3 |
| 29674316 | 2018 | Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin. | 5 |
| 26013830 | 2015 | Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional. | 14 |
| 26063802 | 2015 | Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions. | 8 |
| 26453302 | 2015 | Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking. | 10 |
| 26013830 | 2015 | Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional. | 14 |
| 26063802 | 2015 | Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions. | 8 |
| 26453302 | 2015 | Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking. | 10 |
| 21269598 | 2011 | Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. | 2 |
| 21541222 | 2011 | Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis. | 1 |
| 21269598 | 2011 | Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. | 2 |
Citation
Dessen P
BSND (barttin CLCNK type accessory subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57710/
