Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1184
Gene name Gene Name - the full gene name approved by the HGNC.
Chloride voltage-gated channel 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLCN5
Synonyms (NCBI Gene) Gene synonyms aliases
CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DENT1, XRN
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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 gen
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs151340620 G>A Pathogenic Stop gained, genic downstream transcript variant, coding sequence variant
rs151340621 C>A,T Pathogenic Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs151340622 T>G Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs151340623 T>C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs151340624 C>T Pathogenic, uncertain-significance Stop gained, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030774 hsa-miR-21-5p Microarray 18591254
MIRT479205 hsa-miR-302f PAR-CLIP 20371350
MIRT479204 hsa-miR-6808-5p PAR-CLIP 20371350
MIRT479202 hsa-miR-6893-5p PAR-CLIP 20371350
MIRT479203 hsa-miR-940 PAR-CLIP 20371350
Transcription factors
Transcription factor Regulation Reference
TFAP4 Unknown 15086899
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005247 Function Voltage-gated chloride channel activity IBA 21873635
GO:0005254 Function Chloride channel activity TAS 8559248
GO:0005515 Function Protein binding IPI 19940036
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300008 2023 ENSG00000171365
Protein
UniProt ID P51795
Protein name H(+)/Cl(-) exchange transporter 5 (Chloride channel protein 5) (ClC-5) (Chloride transporter ClC-5)
Protein 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
PDB 2J9L , 2JA3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00654 Voltage_CLC 149 551 Voltage gated chloride channel Family
PF00571 CBS 582 646 CBS domain Domain
PF00571 CBS 679 734 CBS domain Domain
Tissue specificity 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:0000269|PubMed:10198195}.
Sequence
MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYN
GGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHS
VSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTF
EERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGI
PEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFN
KYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF
TLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTT
QLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTS
KGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLG
VGMEQLAYYHQ
EWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTG
GLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEF
AHKTLAMDVMKPRR
NDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKK
QDGVVSTSIIYFTE
HSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQ
CLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN
Sequence length 816
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neutrophil extracellular trap formation   Stimuli-sensing channels
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dent`s disease Dent disease 1, Dent`s disease, Dent disease type 1 rs137853262, rs137853263, rs151340620, rs151340621, rs151340622, rs151340623, rs151340625, rs151340626, rs151340630, rs1569540382, rs2124412922, rs2124388022, rs273585644, rs137853846, rs797044808
View all (16 more)
24081861, 9187673, 19546591, 16822791, 8559248, 15086899, 19657328, 19076289, 18025833, 9328929, 9734595, 19546586, 15895257, 9259268, 19019917
View all (21 more)
Glioma Glioma, mixed gliomas, Malignant Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
12843258
Glomerulonephritis Glomerulonephritis rs778043831
Hypophosphatemic rickets Hypophosphatemic Rickets, X-Linked Dominant, Hypophosphatemic Rickets, Familial Hypophosphatemic Rickets rs104894347, rs28937882, rs587776696, rs587776697, rs587776698, rs121908248, rs587776797, rs121908249, rs193922701, rs193922702, rs886041227, rs886041363, rs886041296, rs886041369, rs866429868
View all (6 more)
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 9328929
Adenocarcinoma Associate 10620205
Albuminuria Associate 32495484
Cholangiocarcinoma Associate 35651328
Chronic Traumatic Encephalopathy Associate 29338612
Dent Disease Associate 10469281, 10620205, 10916075, 12631345, 15086899, 15140760, 16686597, 17982249, 18480301, 19019917, 22441187, 23047739, 23572577, 24398869, 27117801
View all (21 more)
Dent disease 1 Associate 27117801, 27174143, 29084614, 30852663, 32201916, 32393202, 33107589, 33430795, 33600050, 37356184, 38256038, 9893114
Dent Disease 2 Associate 23047739, 34547705
Diabetes Mellitus Stimulate 23029130
Familial Hypophosphatemic Rickets Associate 9452997