• Gene id: 1184

Gene Summary

• Gene Symbol: CLCN5   Gene   UCSC   Ensembl
• Aliases: CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
• Gene name: chloride voltage-gated channel 5
• Alternate names: H(+)/Cl(-) exchange transporter 5, chloride channel, voltage-sensitive 5, chloride transporter ClC-5, voltage-gated chloride ion channel CLCN5,
• Gene location: Xp11.23 (49922595: 50099234)     Exons: 17     NC_000023.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P51795  
  • Name: H(+)/Cl( ) exchange transporter 5 (Chloride channel protein 5) (ClC 5) (Chloride transporter ClC 5)
  • Length: 746  
  • Mass: 83147
  • 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
• Sequence:

  MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLI
  DISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLF
  AFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNIL
  CHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGN
  SRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNE
  YTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKI
  PSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIM
  FELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQ
  DSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPP
  TLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN

• Structural information:
  • Protein Domains: (586..65-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (682..74-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002247  
  • Prosite: PS51371
  • PDB: 2J9L 2JA3
  • PDBsum: 2J9L 2JA3
  • DIP: 29263
  • STRING: ENSP00000365256
• Other Databases: GeneCards:  CLCN5  Malacards:  CLCN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005247	voltage-gated chloride channel activity	IBA	molecular function
GO:0005769	early endosome	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0031404	chloride ion binding	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0015299	solute:proton antiporter activity	IBA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0015297	antiporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007588	excretion	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Hypophosphatemic rickets	KEGG:H00214
Dent disease	KEGG:H00694
X-linked recessive hypophosphatemic rickets	KEGG:H02142
X-linked recessive nephrolithiasis with renal failure	KEGG:H02147
Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis	KEGG:H02148
X-linked hypercalciuric nephrolithiasis	KEGG:H02149
Hypophosphatemic rickets	KEGG:H00214
Dent disease	KEGG:H00694
X-linked recessive hypophosphatemic rickets	KEGG:H02142
X-linked recessive nephrolithiasis with renal failure	KEGG:H02147
Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis	KEGG:H02148
X-linked hypercalciuric nephrolithiasis	KEGG:H02149
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R