CLCN5
entrez
1184
canonical
uniprot
P51795
canonical
ensembl
ENSG00000171365
resolver
ensp
ENSP00000365256
resolver
ensp
ENSP00000365259
resolver
ensp
ENSP00000365276
resolver
ensp
ENSP00000476732
resolver
ensp
ENSP00000648382
resolver
enst
ENST00000482218
resolver
genesymbol
CLCN5
resolver
genesymbol_syn
CLCK2
resolver
hgnc
HGNC:2023
resolver
uniprot
A1L475
resolver
uniprot
A8K4H5
resolver
uniprot
B3KPN6
resolver
uniprot
B3KRR2
resolver
uniprot
Q5JQD5
resolver
uniprot
Q7RTN8
resolver
uniprot
V9GYG7
resolver
uniprot_entry
A8K4H5_HUMAN
resolver
uniprot_entry
B3KRR2_HUMAN
resolver
uniprot_entry
CLCN5_HUMAN
resolver
uniprot_entry
V9GYG7_HUMAN
resolver
uniprot_sec
A1L475
resolver
uniprot_sec
B3KPN6
resolver
uniprot_sec
Q5JQD5
resolver
uniprot_sec
Q7RTN8
resolver
amino_acid_sequence
MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYNGGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN
uniprot
proteins
disease_involvement
DISEASE: Hypophosphatemic rickets, X-linked recessive (XLHRR) [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. XLHRR 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:0000269|PubMed:21305656, ECO:0000269|PubMed:8559248}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dent disease 1 (DENT1) [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. DENT1 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. {ECO:0000269|PubMed:15086899, ECO:0000269|PubMed:16247550, ECO:0000269|PubMed:16416111, ECO:0000269|PubMed:16822791, ECO:0000269|PubMed:17262170, ECO:0000269|PubMed:18025833, ECO:0000269|PubMed:19019917, ECO:0000269|PubMed:19657328, ECO:0000269|PubMed:21305656, ECO:0000269|PubMed:8559248, ECO:0000269|PubMed:9187673, ECO:0000269|PubMed:9259268, ECO:0000269|PubMed:9602200, ECO:0000269|PubMed:9853249}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Nephrolithiasis, X-linked recessive, with renal failure (XRN) [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. XRN patients present with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. {ECO:0000269|PubMed:8559248}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:11136179, ECO:0000269|PubMed:19019917, ECO:0000269|PubMed:9062355}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons (PubMed:20466723). Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable). {ECO:0000269|PubMed:20466723, ECO:0000305}.
uniprot
proteins
mass_dalton
90785
uniprot
proteins
mutagenesis
MUTAGEN 281; /note="E->A: Abolishes proton transport, but not chloride transport."; /evidence="ECO:0000269|PubMed:17195847"; MUTAGEN 687; /note="Y->A: Strongly decreased affinity for ATP, but no effect on chloride transport."; /evidence="ECO:0000269|PubMed:17195847"; MUTAGEN 688; /note="S->A: No effect ATP binding or chloride transport."; /evidence="ECO:0000269|PubMed:17195847"; MUTAGEN 742; /note="Y->A: Abolishes interaction with NEDD4 and NEDD4L."; /evidence="ECO:0000269|PubMed:15489223"; MUTAGEN 797; /note="D->A: Strongly decreased affinity for ATP, but no effect on chloride transport."; /evidence="ECO:0000269|PubMed:17195847
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by NEDD4L in the presence of albumin; which promotes endocytosis and proteasomal degradation. {ECO:0000269|PubMed:15489223}.
uniprot
proteins
protein_family
Chloride channel (TC 2.A.49) family
uniprot
proteins
protein_family
ClC-5/CLCN5 subfamily
uniprot
proteins
pubmed
10198195
uniprot
proteins
pubmed
11136179
uniprot
proteins
pubmed
12886045
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15086899
uniprot
proteins
pubmed
15489223
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16247550
uniprot
proteins
pubmed
16416111
uniprot
proteins
pubmed
16822791
uniprot
proteins
pubmed
17195847
uniprot
proteins
pubmed
17262170
uniprot
proteins
pubmed
18025833
uniprot
proteins
pubmed
19019917
uniprot
proteins
pubmed
19657328
uniprot
proteins
pubmed
20466723
uniprot
proteins
pubmed
21305656
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7874126
uniprot
proteins
pubmed
8559248
uniprot
proteins
pubmed
8575751
uniprot
proteins
pubmed
9062355
uniprot
proteins
pubmed
9187673
uniprot
proteins
pubmed
9259268
uniprot
proteins
pubmed
9602200
uniprot
proteins
pubmed
9853249
uniprot
proteins
sequence_length
816
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19019917}; Multi-pass membrane protein {ECO:0000269|PubMed:19019917}. Endosome membrane {ECO:0000269|PubMed:19019917}; Multi-pass membrane protein {ECO:0000269|PubMed:19019917}. Cell membrane {ECO:0000269|PubMed:19019917}; Multi-pass membrane protein {ECO:0000269|PubMed:19019917}.
uniprot
proteins
transmembrane_region
TRANSMEM 125..162; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 208..231; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 256..275; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 281..300; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 348..366; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 389..415; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 422..442; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 498..518; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 523..542; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 605..622; /note="Helical"; /evidence="ECO:0000250
uniprot
proteins