• Gene id: 1185

Gene Summary

• Gene Symbol: CLCN6   Gene   UCSC   Ensembl
• Aliases: CLC-6
• Gene name: chloride voltage-gated channel 6
• Alternate names: chloride transport protein 6, chloride channel, voltage-sensitive 6,
• Gene location: 1p36.22 (11806095: 11843143)     Exons: 23     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton a
• OMIM: 610667

Protein Summary

• Protein general information: P51797  
  • Name: Chloride transport protein 6 (Chloride channel protein 6) (ClC 6)
  • Length: 869  
  • Mass: 97289
  • Tissue specificity: Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney. {ECO
• Sequence:

  MAGCRGSLCCCCRWCCCCGERETRTPEELTILGETQEEEDEILPRKDYESLDYDRCINDPYLEVLETMDNKKGRR
  YEAVKWMVVFAIGVCTGLVGLFVDFFVRLFTQLKFGVVQTSVEECSQKGCLALSLLELLGFNLTFVFLASLLVLI
  EPVAAGSGIPEVKCYLNGVKVPGIVRLRTLLCKVLGVLFSVAGGLFVEKEGPMIHSGSVVGAGLPQFQSISLRKI
  QFNFPYFRSDRDKRDFVSAGAAAGVAAAFGAPIGGTLFSLEEGSSFWNQGLTWKVLFCSMSATFTLNFFRSGIQF
  GSWGSFQLPGLLNFGEFKCSDSDKKCHLWTAMDLGFFVVMGVIGGLLGATFNCLNKRLAKYRMRNVHPKPKLVRV
  LESLLVSLVTTVVVFVASMVLGECRQMSSSSQIGNDSFQLQVTEDVNSSIKTFFCPNDTYNDMATLFFNPQESAI
  LQLFHQDGTFSPVTLALFFVLYFLLACWTYGISVPSGLFVPSLLCGAAFGRLVANVLKSYIGLGHIYSGTFALIG
  AAAFLGGVVRMTISLTVILIESTNEITYGLPIMVTLMVAKWTGDFFNKGIYDIHVGLRGVPLLEWETEVEMDKLR
  ASDIMEPNLTYVYPHTRIQSLVSILRTTVHHAFPVVTENRGNEKEFMKGNQLISNNIKFKKSSILTRAGEQRKRS
  QSMKSYPSSELRNMCDEHIASEEPAEKEDLLQQMLERRYTPYPNLYPDQSPSEDWTMEERFRPLTFHGLILRSQL
  VTLLVRGVCYSESQSSASQPRLSYAEMAEDYPRYPDIHDLDLTLLNPRMIVDVTPYMNPSPFTVSPNTHVSQVFN
  LFRTMGLRHLPVVNAVGEIVGIITRHNLTYEFLQARLRQHYQTI

• Structural information:
  • Protein Domains: (605..66-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (807..86-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002248  
  • Prosite: PS51371
  • STRING: ENSP00000234488
• Other Databases: GeneCards:  CLCN6  Malacards:  CLCN6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0015108	chloride transmembrane transporter 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:0015297	antiporter activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0010008	endosome membrane	IEA	cellular component
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:1902476	chloride transmembrane transport	IEA	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0006884	cell volume homeostasis	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005247	voltage-gated chloride channel activity	NAS	molecular function
GO:0007165	signal transduction	NAS	biological process
GO:0006884	cell volume homeostasis	NAS	biological process
GO:0006821	chloride transport	NAS	biological process
GO:0006821	chloride transport	NAS	biological process
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005247	voltage-gated chloride channel activity	NAS	molecular function

Diseases

Associated diseases	References
Coronary artery disease	PMID:26740945
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq