Entity Details

Primary name CLIC5
Entity type gene
Source Source Link

Details

PrimaryID53405
RefseqGeneNG_031965
SymbolCLIC5
Namechloride intracellular channel 5
Chromosome6
Location6p21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-09
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCLIC5_HUMAN

GO terms

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GOName
GO:0005244 voltage-gated ion channel activity
GO:0005254 chloride channel activity
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005938 cell cortex
GO:0006749 glutathione metabolic process
GO:0006821 chloride transport
GO:0007565 female pregnancy
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0015629 actin cytoskeleton
GO:0016324 apical plasma membrane
GO:0034707 chloride channel complex
GO:0034765 regulation of ion transmembrane transport
GO:0050896 response to stimulus
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
616042 OMIMDeafness, autosomal recessive, 103 (DFNB103)A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. The disease is caused by variants affecting the gene represented in this entry.