InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLCN5

Summary

InnateDB Protein

IDBP-66760.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLCN5

Protein Name

chloride channel 5

Synonyms

ClC-5; CLC5; CLCK2; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN;

Species

Homo sapiens

Ensembl Protein

ENSP00000304257

InnateDB Gene

IDBG-66752 (CLCN5)

Protein Structure

UniProt Annotation

Function

Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:19019917}; Multi-pass membrane protein {ECO:0000269PubMed:19019917}. Endosome membrane {ECO:0000269PubMed:19019917}; Multi-pass membrane protein {ECO:0000269PubMed:19019917}. Cell membrane {ECO:0000269PubMed:19019917}; Multi-pass membrane protein {ECO:0000269PubMed:19019917}.

Disease Associations

Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554]: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. {ECO:0000269PubMed:8559248}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nephrolithiasis 2 (NPHL2) [MIM:300009]: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. {ECO:0000269PubMed:15086899, ECO:0000269PubMed:16247550, ECO:0000269PubMed:16416111, ECO:0000269PubMed:16822791, ECO:0000269PubMed:17262170, ECO:0000269PubMed:19657328, ECO:0000269PubMed:8559248, ECO:0000269PubMed:9187673, ECO:0000269PubMed:9259268, ECO:0000269PubMed:9602200, ECO:0000269PubMed:9853249}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nephrolithiasis 1 (NPHL1) [MIM:310468]: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. {ECO:0000269PubMed:8559248}. Note=The disease is caused by mutations affecting the gene represented in this entry.Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]: An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. {ECO:0000269PubMed:11136179, ECO:0000269PubMed:9062355}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle. {ECO:0000269PubMed:10198195}.

Comments

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: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:0005887	integral component of plasma membrane
GO:0010008	endosome membrane
GO:0016020	membrane
GO:0045177	apical part of cell