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Aliases for CLIC5 Gene

Aliases for CLIC5 Gene

  • Chloride Intracellular Channel 5 2 3
  • Chloride Intracellular Channel Protein 5 3
  • 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 Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CLIC5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Antibody Products

No data available for DME Specific Peptides for CLIC5 Gene

Domains for CLIC5 Gene

Gene Families for CLIC5 Gene

HGNC:
  • CLIC :Ion channels / Chloride channels : Intracellular

Graphical View of Domain Structure for InterPro Entry

Q9NZA1

UniProtKB/Swiss-Prot:

CLIC5_HUMAN :
  • Q9NZA1
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).

Gene Ontology (GO) - Molecular Function for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005247 voltage-gated chloride channel activity --
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 10793131
genes like me logo Genes that share ontologies with CLIC5: view
genes like me logo Genes that share phenotypes with CLIC5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLIC5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
golgi apparatus 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005938 cell cortex IEA --
GO:0015629 actin cytoskeleton IDA 10793131
GO:0032420 stereocilium IEA --
genes like me logo Genes that share ontologies with CLIC5: view

Pathways for CLIC5 Gene

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

Pathways by source for CLIC5 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002021 response to dietary excess --
GO:0002024 diet induced thermogenesis IEA --
GO:0006810 transport NAS 10793131
GO:0006821 chloride transport IDA 10793131
GO:0007565 female pregnancy TAS 10793131
genes like me logo Genes that share ontologies with CLIC5: view

Compounds for CLIC5 Gene

(1) HMDB Compounds for CLIC5 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLIC5

Primer Products

Flow Cytometry Products

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 (15.3), Heart - Left Ventricle (11.7), and Heart - Atrial Appendage (4.9).

Integrated Proteomics: protein expression 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 expressions with CLIC5: view

In Situ Assay Products

Orthologs for CLIC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLIC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLIC5 35
  • 99.43 (n)
  • 99.27 (a)
CLIC5 36
  • 96 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CLIC5 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLIC5 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clic5 35
  • 89.16 (n)
  • 94.65 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia clic5-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia clic4 35
  • 77.55 (n)
  • 87.6 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2945 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
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

Selected 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 MAF
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 utr-variant-3-prime, nc-transcript-variant
rs720523 -- 46,072,828(-) CACTG(A/T)GATGC intron-variant
rs723580 - 46,079,903(-) CATCA(A/G)CCCAG 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

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

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

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
  2. 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 4 23
  3. 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 4
  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 4 23
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4

Products for CLIC5 Gene

Sources for CLIC5 Gene

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