BSND (barttin CLCNK type accessory subunit beta)

2018-11-01  

Identity

HGNC
BSND
LOCATION
1p32.3
LOCUSID
7809
ALIAS
BART,DFNB73

Other Information

Locus ID:

NCBI: 7809
MIM: 606412
HGNC: 16512
Ensembl: ENSG00000162399

Variants:

dbSNP: 7809
ClinVar: 7809
TCGA: ENSG00000162399
COSMIC: BSND

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162399ENST00000651561Q8WZ55
ENSG00000162399ENST00000651561Q5VU50

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26553CLCNKAGenePathwayassociated23788015
PA26554CLCNKBGenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
321843532020DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.5
321843532020DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.5
284705732018BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors.3
296743162018Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.5
284705732018BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors.3
296743162018Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.5
260138302015Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.14
260638022015Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.8
264533022015Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.10
260138302015Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.14
260638022015Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.8
264533022015Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.10
212695982011Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.2
215412222011Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.1
212695982011Renal 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