Details for: CLCN5
Associated with
Other Information
Genular Protein ID: 878290816
Symbol: CLCN5_HUMAN
Name: Chloride channel protein 5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8575751
Title: Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
PubMed ID: 8575751
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15772651
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 7874126
Title: Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
PubMed ID: 7874126
PubMed ID: 12886045
Title: Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.
PubMed ID: 12886045
DOI: 10.1159/000071883
PubMed ID: 10198195
Title: Expression of CLCN voltage-gated chloride channel genes in human blood vessels.
PubMed ID: 10198195
PubMed ID: 15489223
Title: Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells.
PubMed ID: 15489223
PubMed ID: 20466723
Title: The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
PubMed ID: 20466723
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 17195847
Title: Nucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5.
PubMed ID: 17195847
DOI: 10.1038/nsmb1188
PubMed ID: 8559248
Title: A common molecular basis for three inherited kidney stone diseases.
PubMed ID: 8559248
DOI: 10.1038/379445a0
PubMed ID: 9187673
Title: A second family with XLRH displays the mutation S244L in the CLCN5 gene.
PubMed ID: 9187673
PubMed ID: 9259268
Title: Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
PubMed ID: 9259268
DOI: 10.1093/hmg/6.8.1233
PubMed ID: 9062355
Title: Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
PubMed ID: 9062355
DOI: 10.1172/jci119262
PubMed ID: 9602200
Title: X-linked recessive nephrolithiasis: presentation and diagnosis in children.
PubMed ID: 9602200
PubMed ID: 9853249
Title: Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
PubMed ID: 9853249
PubMed ID: 11136179
Title: Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).
PubMed ID: 11136179
PubMed ID: 15086899
Title: Evidence for genetic heterogeneity in Dent's disease.
PubMed ID: 15086899
PubMed ID: 16247550
Title: Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.
PubMed ID: 16247550
PubMed ID: 16822791
Title: Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study.
PubMed ID: 16822791
DOI: 10.1093/ndt/gfl274
PubMed ID: 16416111
Title: Family history may be misleading in the diagnosis of Dent's disease.
PubMed ID: 16416111
PubMed ID: 17262170
Title: A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
PubMed ID: 17262170
PubMed ID: 18025833
Title: Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.
PubMed ID: 18025833
DOI: 10.1159/000111253
PubMed ID: 19019917
Title: Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
PubMed ID: 19019917
PubMed ID: 19657328
Title: Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.
PubMed ID: 19657328
DOI: 10.1038/ki.2009.305
PubMed ID: 21305656
Title: Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
PubMed ID: 21305656
DOI: 10.1002/humu.21467
Sequence Information:
- Length: 816
- Mass: 90785
- Checksum: C9C63CC222959F35
- Sequence:
MAMWQGAMDN RGFQQGSFSS FQNSSSDEDL MDIPATAMDF SMRDDVPPLD REVGEDKSYN GGGIGSSNRI MDFLEEPIPG VGTYDDFNTI DWVREKSRDR DRHREITNKS KESTWALIHS VSDAFSGWLL MLLIGLLSGS LAGLIDISAH WMTDLKEGIC TGGFWFNHEH CCWNSEHVTF EERDKCPEWN SWSQLIISTD EGAFAYIVNY FMYVLWALLF AFLAVSLVKV FAPYACGSGI PEIKTILSGF IIRGYLGKWT LVIKTITLVL AVSSGLSLGK EGPLVHVACC CGNILCHCFN KYRKNEAKRR EVLSAAAAAG VSVAFGAPIG GVLFSLEEVS YYFPLKTLWR SFFAALVAAF TLRSINPFGN SRLVLFYVEF HTPWHLFELV PFILLGIFGG LWGALFIRTN IAWCRKRKTT QLGKYPVIEV LVVTAITAIL AFPNEYTRMS TSELISELFN DCGLLDSSKL CDYENRFNTS KGGELPDRPA GVGVYSAMWQ LALTLILKIV ITIFTFGMKI PSGLFIPSMA VGAIAGRLLG VGMEQLAYYH QEWTVFNSWC SQGADCITPG LYAMVGAAAC LGGVTRMTVS LVVIMFELTG GLEYIVPLMA AAMTSKWVAD ALGREGIYDA HIRLNGYPFL EAKEEFAHKT LAMDVMKPRR NDPLLTVLTQ DSMTVEDVET IISETTYSGF PVVVSRESQR LVGFVLRRDL IISIENARKK QDGVVSTSII YFTEHSPPLP PYTPPTLKLR NILDLSPFTV TDLTPMEIVV DIFRKLGLRQ CLVTHNGRLL GIITKKDVLK HIAQMANQDP DSILFN
Genular Protein ID: 1094726847
Symbol: A8K4H5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 746
- Mass: 83090
- Checksum: 5528DC0F687D85DD
- Sequence:
MDFLEEPIPG VGTYDDFNTI DWVREKSRDR DRHREITNKS KESTWALIHS VSDAFSGWLL MLLIGLLSGS LAGLIDISAH WMTDLKEGIC TGGFWFNHEH CCWNSEHVTF EERDKCPEWN SWSQLIISTD EGAFAYIVNY FMYVLWALLF AFLAVSLVKV FAPYACGSGI PEIKTILSVF IIRGYLGKWT LVIKTITLVL AVSSGLSLGK EGPLVHVACC CGNILCHCFN KYGKNEAKRR EVLSAAAAAG VSVAFGAPIG GVLFSLEEVS YYFPLKTLWR SFFAALVAAF TLRSINPFGN SRLVLFYVEF HTPWHLFELV PFILLGIFGG LWGALFIRTN IAWCRKRKTT QLGKYPVIEV LVVTAITAIL AFPNEYTRMS TSELISELFN DCGLLDSSKL CDYENRFNTS KGGELPDRPA GVGVYSAMWQ LALTLILKIV ITIFTFGMKI PSGLFIPSMA VGAIAGRLLG VGMEQLAYYH QEWTVFNSWC SQGADCITPG LYAMVGAAAC LGGVTRMTVS LVVIMFELTG GLEYIVPLMA AAMTSKWVAD ALGREGIYDA HIRLNGYPFL EAKEEFAHKT LAMDVMKPRR NDPLLTVLTQ DSMTVEDVET IISETTYSGF PVVVSRESQR LVGFVLRRDL IISIENARKK QDGVVSTSII YFTEHSPPLP PYTPPTLKLR NILDLSPFTV TDLTPMEIVV DIFRKLGLRQ CLVTHNGRLL GIITKKDVLK HIAQMANQDP DSILFN
Genular Protein ID: 3393837069
Symbol: B3KRR2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
Sequence Information:
- Length: 648
- Mass: 71767
- Checksum: 87B51D0207FFF2F6
- Sequence:
MNIVAGTLSM SPLKRDKCPE WNSWSQLIIS TDEGAFAYIV NYFMYVLWAL LFAFLAVSLV KVFAPYACGS GIPEIKTILS GFIIRGYLGK WTLVIKTITL VLAVSSGLSL GKEGPLVHVA CCCGNILCHC FNKYRKNEAK RREVLSAAAA AGVSVAFGAP IGGVLFSLEE VSYYFPLKTL WRSFFAALVA AFTLRSINPF GNSRLVLFYV EFHTPWHLFE LVPFILLGIF GGLWGALFIR TNIAWCRKRK TTQLGKYPVI EVLVVTAITA ILAFPNEYTR MSTSELISEL FNDYGLLDSS KLCDYENRFN TSKGGELPDR PAGVGVYSAM WQLALTLILK IVITIFTFGM KIPSGLFIPS MAVGAIAGRL LGVGMEQLAY YHQEWTVFNS WCSQGADCIT PGLYAMVGAA ACLGGVTRMT VSLVVIMFEL TGGLEYIVPL MAAAMTSKWV ADALGREGIY DAHIRLNGYP FLEAKEEFAH KTLAMDVMKP RRNDPLLTVL TQDSMTVEDV ETIISETTYS GFPVVVSRES QRLVGFVLRR DLIISIENAR KKQDGVVSTS IIYFTEHSPP LPPYTPPTLK LRNILDLSPF TVTDLTPMEI VVDIFRKLGL RQCLVTHNGR LLGIITKKDV LKHIAQMANQ DPDSILFN
Genular Protein ID: 3277760979
Symbol: V9GYG7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15772651
Sequence Information:
- Length: 64
- Mass: 7019
- Checksum: 98DCE3A561E465BD
- Sequence:
MAMWQGAMDN RGFQQGSFSS FQNSSSDEDL MDIPATAMDF SMRDDVPPLD REVGGIIIGD DNLS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.