• Gene id: 1182

Gene Summary

• Gene Symbol: CLCN3   Gene   UCSC   Ensembl
• Aliases: CLC3, ClC-3
• Gene name: chloride voltage-gated channel 3
• Alternate names: H(+)/Cl(-) exchange transporter 3, chloride channel 3, chloride channel protein 3, chloride channel, voltage-sensitive 3, chloride transporter ClC-3,
• Gene location: 4q33 (169620577: 169723672)     Exons: 16     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domai
• OMIM: 600580

Protein Summary

• Protein general information: P51790  
  • Name: H(+)/Cl( ) exchange transporter 3 (Chloride channel protein 3) (ClC 3) (Chloride transporter ClC 3)
  • Length: 818  
  • Mass: 90966
  • Tissue specificity: Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscl
• Sequence:

  MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMTNGGSINSSTHLLDLL
  DEPIPGVGTYDDFHTIDWVREKCKDRERHRRINSKKKESAWEMTKSLYDAWSGWLVVTLTGLASGALAGLIDIAA
  DWMTDLKEGICLSALWYNHEQCCWGSNETTFEERDKCPQWKTWAELIIGQAEGPGSYIMNYIMYIFWALSFAFLA
  VSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLF
  PKYSTNEAKKREVLSAASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFVLRSINPFGNSRLV
  LFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKSTKFGKYPVLEVIIVAAITAVIAFPNPYTRL
  NTSELIKELFTDCGPLESSSLCDYRNDMNASKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSG
  LFIPSMAIGAIAGRIVGIAVEQLAYYHHDWFIFKEWCEVGADCITPGLYAMVGAAACLGGVTRMTVSLVVIVFEL
  TGGLEYIVPLMAAVMTSKWVGDAFGREGIYEAHIRLNGYPFLDAKEEFTHTTLAADVMRPRRNDPPLAVLTQDNM
  TVDDIENMINETSYNGFPVIMSKESQRLVGFALRRDLTIAIESARKKQEGIVGSSRVCFAQHTPSLPAESPRPLK
  LRSILDMSPFTVTDHTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDILRHMAQTANQDPASIMFN

• Structural information:
  • Protein Domains: (658..72-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (755..81-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002245  
  • Prosite: PS51371
  • STRING: ENSP00000261514
• Other Databases: GeneCards:  CLCN3  Malacards:  CLCN3

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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:0015297	antiporter activity	ISS	molecular function
GO:0055037	recycling endosome	ISS	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0005765	lysosomal membrane	ISS	cellular component
GO:0010008	endosome membrane	ISS	cellular component
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:0031410	cytoplasmic vesicle	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:0000166	nucleotide binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0072320	volume-sensitive chloride channel activity	IMP	molecular function
GO:1902476	chloride transmembrane transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0005254	chloride channel activity	IDA	molecular function
GO:0008021	synaptic vesicle	IDA	cellular component
GO:0030141	secretory granule	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0042581	specific granule	IDA	cellular component
GO:0045335	phagocytic vesicle	IDA	cellular component
GO:0045794	negative regulation of cell volume	IMP	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0012506	vesicle membrane	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0009986	cell surface	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048388	endosomal lumen acidification	TAS	biological process
GO:0006885	regulation of pH	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005254	chloride channel activity	TAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881