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CLCN5

GENERAL INFORMATION

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

RNA tissue category
HPA:Tissue enhanced (epididymis, kidney)
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

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

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Uncertain based on 1 antibody.
HPA000401
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (epididymis, kidney)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 1184

UniProt

 P51795 (UniProt - Evidence at protein level)

neXtProt

 NX_P51795

Antibodypedia

 CLCN5 antibodies

PROTEIN BROWSER
CLCN5-001
CLCN5-002
CLCN5-003
CLCN5-004
CLCN5-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CLCN5-001
ENSP00000365256
ENST00000376088
P51795 [Direct mapping]
H(+)/Cl(-) exchange transporter 5
Show all
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
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0005216 [ion channel activity]
GO:0005247 [voltage-gated chloride channel activity]
GO:0005254 [chloride channel activity]
GO:0005524 [ATP binding]
GO:0005765 [lysosomal membrane]
GO:0005768 [endosome]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006821 [chloride transport]
GO:0006897 [endocytosis]
GO:0007588 [excretion]
GO:0010008 [endosome membrane]
GO:0015297 [antiporter activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0045177 [apical part of cell]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1903959 [regulation of anion transmembrane transport]
Show all
 816 aa
90.8 kDa 		No >9
CLCN5-002
ENSP00000365259
ENST00000376091
P51795 [Direct mapping]
H(+)/Cl(-) exchange transporter 5
Show all
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
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0005216 [ion channel activity]
GO:0005247 [voltage-gated chloride channel activity]
GO:0005254 [chloride channel activity]
GO:0005524 [ATP binding]
GO:0005765 [lysosomal membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006821 [chloride transport]
GO:0007588 [excretion]
GO:0010008 [endosome membrane]
GO:0015297 [antiporter activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0045177 [apical part of cell]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1903959 [regulation of anion transmembrane transport]
Show all
 816 aa
90.8 kDa 		No >9
CLCN5-003
ENSP00000304257
ENST00000307367
P51795 [Direct mapping]
H(+)/Cl(-) exchange transporter 5
Show all
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
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0005216 [ion channel activity]
GO:0005247 [voltage-gated chloride channel activity]
GO:0005254 [chloride channel activity]
GO:0005524 [ATP binding]
GO:0005765 [lysosomal membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006821 [chloride transport]
GO:0007588 [excretion]
GO:0010008 [endosome membrane]
GO:0015297 [antiporter activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0045177 [apical part of cell]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1903959 [regulation of anion transmembrane transport]
Show all
 746 aa
83.1 kDa 		No >9
CLCN5-004
ENSP00000365276
ENST00000376108
P51795 [Direct mapping]
H(+)/Cl(-) exchange transporter 5
Show all
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
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0005216 [ion channel activity]
GO:0005247 [voltage-gated chloride channel activity]
GO:0005254 [chloride channel activity]
GO:0005524 [ATP binding]
GO:0005765 [lysosomal membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006821 [chloride transport]
GO:0007588 [excretion]
GO:0010008 [endosome membrane]
GO:0015297 [antiporter activity]
GO:0016020 [membrane]
GO:0034220 [ion transmembrane transport]
GO:0045177 [apical part of cell]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
GO:1903959 [regulation of anion transmembrane transport]
Show all
 746 aa
83.1 kDa 		No >9
CLCN5-005
ENSP00000476732
ENST00000482218
V9GYG7 [Direct mapping]
H(+)/Cl(-) exchange transporter 5
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 64 aa
7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.