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Aliases for CLIC5 Gene

Aliases for CLIC5 Gene

  • Chloride Intracellular Channel 5 2 3 5
  • DFNB102 3
  • DFNB103 3
  • MSTP130 3
  • MST130 3

External Ids for CLIC5 Gene

Previous GeneCards Identifiers for CLIC5 Gene

  • GC06M045871
  • GC06M045916
  • GC06M045977
  • GC06M045589

Summaries for CLIC5 Gene

Entrez Gene Summary for CLIC5 Gene

  • 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 formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for CLIC5 Gene

CLIC5 (Chloride Intracellular Channel 5) is a Protein Coding gene. Diseases associated with CLIC5 include deafness, autosomal recessive 103 and autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are Hepatic ABC Transporters and Neuropathic Pain-Signaling in Dorsal Horn Neurons. GO annotations related to this gene include chloride channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLIC1.

UniProtKB/Swiss-Prot for CLIC5 Gene

  • Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315).

Gene Wiki entry for CLIC5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLIC5 Gene

Genomics for CLIC5 Gene

Regulatory Elements for CLIC5 Gene

Genomic Location for CLIC5 Gene

Chromosome:
6
Start:
45,898,451 bp from pter
End:
46,080,395 bp from pter
Size:
181,945 bases
Orientation:
Minus strand

Genomic View for CLIC5 Gene

Genes around CLIC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLIC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLIC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLIC5 Gene

Proteins for CLIC5 Gene

  • Protein details for CLIC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZA1-CLIC5_HUMAN
    Recommended name:
    Chloride intracellular channel protein 5
    Protein Accession:
    Q9NZA1
    Secondary Accessions:
    • B3KUF1
    • Q5T4Z0
    • Q8NBY3
    • Q96JT5
    • Q9BWZ0

    Protein attributes for CLIC5 Gene

    Size:
    410 amino acids
    Molecular mass:
    46503 Da
    Quaternary structure:
    • Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, and IQGAP1. Interacts with AKAP9.

    Alternative splice isoforms for CLIC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLIC5 Gene

Proteomics data for CLIC5 Gene at MOPED

Post-translational modifications for CLIC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLIC5 Gene

No data available for DME Specific Peptides for CLIC5 Gene

Domains & Families for CLIC5 Gene

Gene Families for CLIC5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZA1

UniProtKB/Swiss-Prot:

CLIC5_HUMAN :
  • Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity).
  • Belongs to the chloride channel CLIC family.
Domain:
  • Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity).
  • Contains 1 GST C-terminal domain.
Family:
  • Belongs to the chloride channel CLIC family.
genes like me logo Genes that share domains with CLIC5: view

Function for CLIC5 Gene

Molecular function for CLIC5 Gene

UniProtKB/Swiss-Prot Function:
Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315).
genes like me logo Genes that share phenotypes with CLIC5: view

Human Phenotype Ontology for CLIC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CLIC5

miRNA for CLIC5 Gene

miRTarBase miRNAs that target CLIC5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CLIC5 Gene

Localization for CLIC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLIC5 Gene

Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Membrane; Single-pass membrane protein. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250}.
Isoform 2: Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Membrane; Single-pass membrane protein. Note=Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Colocalized with podocalyxin in renal glomeruli. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLIC5 Gene COMPARTMENTS Subcellular localization image for CLIC5 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
golgi apparatus 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005815 microtubule organizing center IEA --
GO:0032420 stereocilium IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with CLIC5: view

Pathways & Interactions for CLIC5 Gene

genes like me logo Genes that share pathways with CLIC5: view

Pathways by source for CLIC5 Gene

Gene Ontology (GO) - Biological Process for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002024 diet induced thermogenesis IEA --
GO:0006810 transport NAS 10793131
GO:0006821 chloride transport IDA 10793131
GO:0007565 female pregnancy TAS 10793131
GO:0007605 sensory perception of sound IMP 24781754
genes like me logo Genes that share ontologies with CLIC5: view

No data available for SIGNOR curated interactions for CLIC5 Gene

Drugs & Compounds for CLIC5 Gene

(1) Additional Compounds for CLIC5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with CLIC5: view

Transcripts for CLIC5 Gene

Unigene Clusters for CLIC5 Gene

Chloride intracellular channel 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLIC5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b · 12c
SP1: - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: -
SP5: - - - -
SP6: - - - - -
SP7: - -
SP8: - - - - -

Relevant External Links for CLIC5 Gene

GeneLoc Exon Structure for
CLIC5
ECgene alternative splicing isoforms for
CLIC5

Expression for CLIC5 Gene

mRNA expression in normal human tissues for CLIC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLIC5 Gene

This gene is overexpressed in Muscle - Skeletal (x15.3), Heart - Left Ventricle (x11.7), and Heart - Atrial Appendage (x4.9).

Protein differential expression in normal tissues from HIPED for CLIC5 Gene

This gene is overexpressed in Liver (24.1) and Retina (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CLIC5 Gene



SOURCE GeneReport for Unigene cluster for CLIC5 Gene Hs.485489

mRNA Expression by UniProt/SwissProt for CLIC5 Gene

Q9NZA1-CLIC5_HUMAN
Tissue specificity: Widely expressed in both fetal and adult human tissues (PubMed:24781754). Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level).
genes like me logo Genes that share expression patterns with CLIC5: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for CLIC5 Gene

Orthologs for CLIC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLIC5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CLIC5 35
  • 81.91 (n)
  • 78 (a)
CLIC5 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLIC5 35
  • 82.3 (n)
  • 79.01 (a)
CLIC5 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clic5 35
  • 88.89 (n)
  • 94.65 (a)
Clic5 16
Clic5 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLIC5 35
  • 99.43 (n)
  • 99.27 (a)
CLIC5 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clic5 35
  • 89.16 (n)
  • 94.65 (a)
oppossum
(Monodelphis domestica)
Mammalia CLIC5 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLIC5 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLIC5 35
  • 68.35 (n)
  • 67.02 (a)
CLIC5 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLIC5 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clic4 35
  • 77.55 (n)
  • 87.6 (a)
African clawed frog
(Xenopus laevis)
Amphibia clic5-prov 35
zebrafish
(Danio rerio)
Actinopterygii clic5a 35
  • 73.53 (n)
  • 79.83 (a)
clic5a 36
  • 77 (a)
OneToMany
clic5b 36
  • 54 (a)
OneToMany
clic5b 36
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2945 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000943 35
  • 50.41 (n)
  • 38.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta Clic 35
  • 50.58 (n)
  • 37.31 (a)
Clic 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea exc-4 36
  • 20 (a)
ManyToMany
exl-1 36
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6991 36
  • 42 (a)
OneToMany
Species with no ortholog for CLIC5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLIC5 Gene

ENSEMBL:
Gene Tree for CLIC5 (if available)
TreeFam:
Gene Tree for CLIC5 (if available)

Paralogs for CLIC5 Gene

Paralogs for CLIC5 Gene

(6) SIMAP similar genes for CLIC5 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CLIC5: view

Variants for CLIC5 Gene

Sequence variations from dbSNP and Humsavar for CLIC5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2145 -- 46,001,806(-) ACATG(C/T)GAAAT intron-variant
rs2146 -- 46,001,922(-) GAAGG(A/C)ATTAT intron-variant
rs3224 -- 45,901,893(+) CTAAG(C/G)TGTTC intron-variant, nc-transcript-variant, utr-variant-3-prime
rs720523 -- 46,072,828(-) CACTG(A/T)GATGC intron-variant
rs723580 - 46,079,903(-) CATCA(A/G)CCCAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CLIC5 Gene

Variant ID Type Subtype PubMed ID
dgv1947e1 CNV Complex 17122850
nsv517891 CNV Gain 19592680
nsv483136 CNV Loss 15286789
esv273799 CNV Insertion 20981092
nsv885867 CNV Gain 21882294
esv2585595 CNV Deletion 19546169
esv2367588 CNV Deletion 18987734
esv4021 CNV Deletion 18987735
esv2732026 CNV Deletion 23290073
nsv349891 CNV Loss 16902084
esv1008384 CNV Deletion 20482838
esv1256091 CNV Deletion 17803354

Variation tolerance for CLIC5 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.15; 51.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLIC5 Gene

HapMap Linkage Disequilibrium report
CLIC5
Human Gene Mutation Database (HGMD)
CLIC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLIC5 Gene

Disorders for CLIC5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CLIC5 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 103
  • deafness, autosomal recessive, 103
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search CLIC5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLIC5_HUMAN
  • Deafness, autosomal recessive, 103 (DFNB103) [MIM:616042]: 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. {ECO:0000269 PubMed:24781754}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CLIC5

Genetic Association Database (GAD)
CLIC5
Human Genome Epidemiology (HuGE) Navigator
CLIC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLIC5
genes like me logo Genes that share disorders with CLIC5: view

No data available for Genatlas for CLIC5 Gene

Publications for CLIC5 Gene

  1. Identification of a novel member of the chloride intracellular channel gene family (CLIC5) that associates with the actin cytoskeleton of placental microvilli. (PMID: 10793131) Berryman M. … Bretscher A. (Mol. Biol. Cell 2000) 2 3 4 23 67
  2. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. (PMID: 24781754) Seco C.Z. … Schraders M. (Eur. J. Hum. Genet. 2015) 2 3
  3. The CLIC5 (chloride intracellular channel 5) involved in C2C12 myoblasts proliferation and differentiation. (PMID: 20055760) Li F. … Zhang H. (Cell Biol. Int. 2010) 3 23
  4. CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity. (PMID: 20335315) Wegner B. … Ballermann B.J. (Am. J. Physiol. 2010) 3 23
  5. AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member. (PMID: 12163479) Shanks R.A. … Goldenring J.R. (J. Biol. Chem. 2002) 3 23

Products for CLIC5 Gene

Sources for CLIC5 Gene

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