CLCN5

GENERAL INFORMATION

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Gene name

CLCN5

Gene description

Chloride channel, voltage-sensitive 5

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression with a granular pattern in selected tissues, most abundant in subsets of renal tubules and neurons in cerebral cortex.

ANTIBODY RELIABILITY

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Data reliability
description

Nuclear staining is observed as off target binding and therefore disregarded.

Data reliability

Uncertain based on 1 antibody.
HPA000401
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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:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

CLCN5 (HGNC Symbol)

Synonyms

ClC-5, CLC5, DENTS, hCIC-K2, hClC-K2, NPHL1, NPHL2, XLRH, XRN

Description

Chloride channel, voltage-sensitive 5 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Chromosome

X

Cytoband

p11.23

Chromosome location (bp)

49922615 - 50099235

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171365 (version 78.38)

Entrez gene

1184

UniProt

P51795 (UniProt - Evidence at protein level)

neXtProt

NX_P51795

Antibodypedia

CLCN5 antibodies


PROTEIN BROWSER

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ENST00000307367
 
ENST00000376088
 
ENST00000376091
 
ENST00000376108
 
ENST00000482218
 
 
 
 


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)

CLCN5-001 ENSP00000365256
ENST00000376088
P51795
Show all »
Show » Show » 816 90.8 No >9
CLCN5-002 ENSP00000365259
ENST00000376091
P51795
Show all »
Show » Show » 816 90.8 No >9
CLCN5-003 ENSP00000304257
ENST00000307367
P51795
Show all »
Show » Show » 746 83.1 No >9
CLCN5-004 ENSP00000365276
ENST00000376108
P51795
Show all »
Show » Show » 746 83.1 No >9
CLCN5-005 ENSP00000476732
ENST00000482218
V9GYG7
Show all »
Show » 64 7 No 0