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Gene: CLCN5 (chloride voltage-gated channel 5) Homo sapiens
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Symbol: CLCN5
Name: chloride voltage-gated channel 5
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chloride channel 5; chloride channel protein 5; chloride channel, voltage-sensitive 5; chloride transporter ClC-5; clC-5; CLC5; CLCK2; DENTS; H(+)/Cl(-) exchange transporter 5; hCIC-K2; hClC-K2; nephrolithiasis 1 (X-linked); NPHL1; NPHL2; voltage-gated chloride ion channel CLCN5; XLRH; XRN
Orthologs:
Mus musculus (house mouse) : Clcn5 (chloride channel, voltage-sensitive 5)  MGI  Alliance
Rattus norvegicus (Norway rat) : Clcn5 (chloride voltage-gated channel 5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Clcn5 (chloride voltage-gated channel 5)
Pan paniscus (bonobo/pygmy chimpanzee) : CLCN5 (chloride voltage-gated channel 5)
Canis lupus familiaris (dog) : CLCN5 (chloride voltage-gated channel 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Clcn5 (chloride voltage-gated channel 5)
Sus scrofa (pig) : CLCN5 (chloride voltage-gated channel 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,922,615 - 50,099,235 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,687,225 - 49,863,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X49,718,955 - 49,750,632 (+)NCBINCBI36hg18NCBI36
Build 34X49,537,191 - 49,560,557NCBI
CeleraX53,756,528 - 53,932,992 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX47,156,646 - 47,337,277 (+)NCBIHuRef
CHM1_1X49,766,989 - 49,943,526 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CLCN5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 733029
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.