BSND

GENERAL INFORMATION

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Gene name

BSND

Gene description

Barttin CLCNK-type chloride channel accessory beta subunit

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

1
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

High cytoplasmic expression in tubuli in kidney. Also weaker cytoplasmic expression in salivary gland.

ANTIBODY RELIABILITY

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Data reliability
description

Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 1 antibody.
HPA053836
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



GENE INFORMATION

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Gene name

BSND (HGNC Symbol)

Synonyms

BART, DFNB73

Description

Barttin CLCNK-type chloride channel accessory beta subunit (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

p32.3

Chromosome location (bp)

54998933 - 55010883

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000162399 (version 78.38)

Entrez gene

7809

UniProt

Q8WZ55 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WZ55

Antibodypedia

BSND antibodies


PROTEIN BROWSER

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ENST00000371265
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BSND-001 ENSP00000360312
ENST00000371265
Q8WZ55
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