• Gene id: 53405

Gene Summary

• Gene Symbol: CLIC5   Gene   UCSC   Ensembl
• Aliases: DFNB102, DFNB103, MST130, MSTP130
• Gene name: chloride intracellular channel 5
• Alternate names: chloride intracellular channel protein 5,
• Gene location: 6p21.1 (46129818: 45898450)     Exons: 14     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia form
• OMIM: 607293

Protein Summary

• Protein general information: Q9NZA1  
  • Name: Chloride intracellular channel protein 5
  • Length: 410  
  • Mass: 46503
  • Tissue specificity: Widely expressed in both fetal and adult human tissues (PubMed
• Sequence:

  MNDEDYSTIYDTIQNERTYEVPDQPEENESPHYDDVHEYLRPENDLYATQLNTHEYDFVSVYTIKGEETSLASVQ
  SEDRGYLLPDEIYSELQEAHPGEPQEDRGISMEGLYSSTQDQQLCAAELQENGSVMKEDLPSPSSFTIQHSKAFS
  TTKYSCYSDAEGLEEKEGAHMNPEIYLFVKAGIDGESIGNCPFSQRLFMILWLKGVVFNVTTVDLKRKPADLHNL
  APGTHPPFLTFNGDVKTDVNKIEEFLEETLTPEKYPKLAAKHRESNTAGIDIFSKFSAYIKNTKQQNNAALERGL
  TKALKKLDDYLNTPLPEEIDANTCGEDKGSRRKFLDGDELTLADCNLLPKLHVVKIVAKKYRNYDIPAEMTGLWR
  YLKNAYARDEFTNTCAADSEIELAYADVAKRLSRS

• Structural information:
  • Protein Domains: (260..40-)
    (/note="GST-C-terminal")
  • Interpro: IPR002946  IPR030264  IPR042069  IPR010987  IPR036282   IPR040079  IPR004045  IPR036249  
  • Prosite: PS50405
  • CDD: cd10297
  • STRING: ENSP00000185206
• Other Databases: GeneCards:  CLIC5  Malacards:  CLIC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007565	female pregnancy	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0006821	chloride transport	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881