Expression of BSND in cancer - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	BSND
Gene description	Barttin CLCNK-type chloride channel accessory beta subunit
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Tissue enriched (renal cancer)
HPA (cell line):	Cell line enriched (RPMI-8226)
HPA (normal tissue):	Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

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

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.
Reliability score	Supported based on 1 antibody. HPA053836
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Tissue enriched (renal cancer)

PROTEIN EXPRESSION

STAINING SUMMARY

HPA053836

GENE INFORMATION
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 83.38)
Entrez gene	7809
UniProt	Q8WZ55 (UniProt - Evidence at protein level)
neXtProt	NX_Q8WZ55
Antibodypedia	BSND antibodies

PROTEIN BROWSER

BSND-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BSND-001 ENSP00000360312 ENST00000371265	Q8WZ55 [Direct mapping] Barttin Q5VU50 [Target identity:100%; Query identity:100%] Bartter syndrome, infantile, with sensorineural deafness (Barttin) Show all	Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005254 [chloride channel activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006821 [chloride transport] GO:0016323 [basolateral plasma membrane] GO:0017081 [chloride channel regulator activity] GO:0034220 [ion transmembrane transport] GO:0043234 [protein complex] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] Show all	320 aa 35.2 kDa	No	1