Entity Details

Primary name CLCN4
Entity type gene
Source Source Link

Details

PrimaryID1183
RefseqGeneNG_012496
SymbolCLCN4
Namechloride voltage-gated channel 4
ChromosomeX
LocationXp22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-04
ModificationDate2021-06-12

Ontological Relatives

UniProt IDsCLCN4_HUMAN

GO terms

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GOName
GO:0005247 voltage-gated chloride channel activity
GO:0005254 chloride channel activity
GO:0005524 ATP binding
GO:0005765 lysosomal membrane
GO:0005769 early endosome
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005887 integral component of plasma membrane
GO:0006821 chloride transport
GO:0008021 synaptic vesicle
GO:0010008 endosome membrane
GO:0015297 antiporter activity
GO:0015299 solute:proton antiporter activity
GO:0031901 early endosome membrane
GO:0031902 late endosome membrane
GO:0034220 ion transmembrane transport
GO:0055037 recycling endosome
GO:0055038 recycling endosome membrane

Diseases

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Disease IDSourceNameDescription
300114 OMIMRaynaud-Claes syndrome (MRXSRC)An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
CLCN4ABHD5IntAct32296183 details
CLCN4VIRMABioGRID29507755 details