Version 5.4
Homo sapiens Gene: CLCN5
Summary
InnateDB Gene IDBG-66752.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLCN5
Gene Name chloride channel, voltage-sensitive 5
Synonyms ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN
Species Homo sapiens
Ensembl Gene ENSG00000171365
Encoded Proteins
IDBP-66754
chloride channel 5
IDBP-66756
chloride channel 5
IDBP-66758
chloride channel 5
IDBP-66760
chloride channel 5
IDBP-808071
chloride channel, voltage-sensitive 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:49922615-50099235
Strand Forward strand
Band p11.23
Transcripts
ENST00000376108 ENSP00000365276
ENST00000376091 ENSP00000365259
ENST00000376088 ENSP00000365256
ENST00000307367 ENSP00000304257
ENST00000482218 ENSP00000476732
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005247 voltage-gated chloride channel activity
GO:0005254 chloride channel activity
GO:0005524 ATP binding
GO:0015297 antiporter activity
Biological Process
GO:0006810 transport
GO:0006821 chloride transport
GO:0006897 endocytosis
GO:0007588 excretion
GO:0034220 ion transmembrane transport
GO:0044070 regulation of anion transport
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0000139 Golgi membrane
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005887 integral component of plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0045177 apical part of cell
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004317
View Gene Order
ENSBTAG00000001507
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.166486 Hs.597779 Hs.621845 Hs.639284
RefSeq NM_000084 NM_001127898 NM_001127899 NM_001272102 NM_001282163
HUGO
OMIM
CCDS CCDS14328 CCDS48115 CCDS69763
HPRD 02053
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca