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 vari... See more...

Aliases for CLIC5 Gene

Aliases for CLIC5 Gene

  • Chloride Intracellular Channel 5 2 3 5
  • Chloride Intracellular Channel Protein 5 3 4
  • DFNB102 2 3
  • DFNB103 3
  • MSTP130 3
  • MST130 3
  • CLIC5 5

External Ids for CLIC5 Gene

Previous GeneCards Identifiers for CLIC5 Gene

  • GC06M045871
  • GC06M045916
  • GC06M045977
  • GC06M045589
  • GC06M045848

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 Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include chloride channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLIC6.

UniProtKB/Swiss-Prot Summary 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). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity).

Gene Wiki entry for CLIC5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLIC5 Gene

Genomics for CLIC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLIC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J046128 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.7 +0.0 29 2.8 BCLAF1 SP1 ZNF207 ZNF600 ZNF10 POLR2A ZBTB10 YY1 GABPA MBD2 ENSG00000231769 ENPP4 CLIC5 TDRD6 piR-55809-032 SUPT3H
GH06J046010 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 270.4 +116.5 116480 6.1 EZH2 ZNF600 ZIC2 ZBTB10 CEBPB ZNF341 EP300 FOXA2 SP2 IRF4 CLIC5 ENPP4 ENSG00000231769 lnc-ENPP5-1 piR-61532-263 SUPT3H
GH06J046077 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 250.2 +50.6 50589 3.9 FOXA2 EGR2 CREB1 ZFHX2 CLIC5 ENPP4 ENSG00000231769 piR-49322-539 RF00026-904 RNU6-754P SUPT3H
GH06J046044 Enhancer 1.1 Ensembl ENCODE dbSUPER 14.1 +86.9 86918 7 ZNF654 JUND CEBPB TRIM22 CTCF MCM3 EP300 RAD21 PRDM6 YBX1 CLIC5 RNU6-754P ENSG00000236466 RCAN2 ENPP4 ENSG00000231769 RF00026-904 piR-49322-539 SUPT3H
GH06J046050 Enhancer 1.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.6 +75.2 75184 8 ATF3 YY1 RXRA JUND HNF4A RAD21 MAX SP1 TRIM28 EGR1 RNU6-754P CLIC5 piR-49322-539 RF00026-904 SUPT3H
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLIC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLIC5

Top Transcription factor binding sites by QIAGEN in the CLIC5 gene promoter:
  • AML1a
  • C/EBPbeta
  • FOXO1
  • FOXO1a
  • POU2F1
  • POU2F1b
  • POU2F1c
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CLIC5 Gene

Latest Assembly
chr6:45,880,827-46,129,819
(GRCh38/hg38)
Size:
248,993 bases
Orientation:
Minus strand

Previous Assembly
chr6:45,866,188-46,097,556
(GRCh37/hg19 by Entrez Gene)
Size:
231,369 bases
Orientation:
Minus strand

chr6:45,868,045-46,048,132
(GRCh37/hg19 by Ensembl)
Size:
180,088 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.

    Three dimensional structures from OCA and Proteopedia for CLIC5 Gene

    Alternative splice isoforms for CLIC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLIC5 Gene

Post-translational modifications for CLIC5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLIC5 Gene

Domains & Families for CLIC5 Gene

Gene Families for CLIC5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CLIC5 Gene

Suggested Antigen Peptide Sequences for CLIC5 Gene

GenScript: Design optimal peptide antigens:
  • Chloride intracellular channel protein 5 (CLIC5_HUMAN)
  • CLIC5 protein (Q49AE1_HUMAN)
  • Chloride intracellular channel 5A (Q53G01_HUMAN)
  • MSTP130 (Q7Z2R8_HUMAN)
  • CLIC5 protein (Q8N675_HUMAN)

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).
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). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity).

Phenotypes From GWAS Catalog for CLIC5 Gene

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:0005254 chloride channel activity IEA --
GO:0005515 protein binding IEA,IPI 10793131
genes like me logo Genes that share ontologies with CLIC5: view
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 Models for CLIC5 Gene

MGI Knock Outs for CLIC5:
  • Clic5 Clic5<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for CLIC5

miRNA for CLIC5 Gene

miRTarBase miRNAs that target CLIC5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLIC5

No data available for Enzyme Numbers (IUBMB) , 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, cytoskeleton. Cytoplasm, cell cortex. Membrane. Single-pass membrane protein. Apical cell membrane. Single-pass membrane protein. Cytoplasm. Note=Associates with the cortical actin cytoskeleton (PubMed:10793131, PubMed:15184393). Localizes to the apical region of cochlear hair cells, at the base of the actin-rich hair bundle (By similarity). Colocalizes with podocalyxin at the apical cell membrane in renal glomeruli (PubMed:20335315). May localize to the centrosome in lens epithelial cells (By similarity). Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). {ECO:0000250 UniProtKB:O00299, ECO:0000250 UniProtKB:Q8BXK9, ECO:0000250 UniProtKB:Q9EPT8, ECO:0000269 PubMed:10793131, ECO:0000269 PubMed:15184393, ECO:0000269 PubMed:20335315}.
[Isoform 2]: Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. {ECO:0000269 PubMed:12163479}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLIC5 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
plasma membrane 4
extracellular 4
nucleus 3
cytosol 3
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with CLIC5: view

Pathways & Interactions for CLIC5 Gene

PathCards logo

SuperPathways for CLIC5 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.56
2 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.40
3 Hepatic ABC Transporters
.41
genes like me logo Genes that share pathways with CLIC5: view

Pathways by source for CLIC5 Gene

5 Qiagen pathways for CLIC5 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cholera Infection
  • Hepatic ABC Transporters
  • PKA Signaling

Gene Ontology (GO) - Biological Process for CLIC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006749 glutathione metabolic process IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA,IDA 10793131
GO:0007565 female pregnancy TAS 10793131
GO:0007601 visual perception IEA --
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) Drugs for CLIC5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0
genes like me logo Genes that share compounds with CLIC5: view

Transcripts for CLIC5 Gene

mRNA/cDNA for CLIC5 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLIC5

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

Expression for CLIC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for CLIC5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLIC5

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).

Evidence on tissue expression from TISSUES for CLIC5 Gene

  • Kidney(4.5)
  • Intestine(4.3)
  • Heart(3)
  • Muscle(2.8)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLIC5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CLIC5: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CLIC5 29 30
  • 99.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Clic5 29
  • 89.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia CLIC5 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Clic5 29 16 30
  • 88.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CLIC5 29 30
  • 82.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLIC5 29 30
  • 81.91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CLIC5 30
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CLIC5 29 30
  • 68.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLIC5 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia clic4 29
  • 77.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia clic5-prov 29
Zebrafish
(Danio rerio)
Actinopterygii clic5a 29 30
  • 73.53 (n)
OneToMany
clic5b 30 30
  • 54 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2945 29
Fruit Fly
(Drosophila melanogaster)
Insecta Clic 29 30
  • 50.58 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000943 29
  • 50.41 (n)
Worm
(Caenorhabditis elegans)
Secernentea exl-1 30
  • 26 (a)
ManyToMany
exc-4 30
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6991 30
  • 42 (a)
OneToMany
Species where no ortholog for CLIC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CLIC5: view image
Alliance of Genome Resources:
Additional Orthologs for CLIC5

Paralogs for CLIC5 Gene

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

  • CLIC5_HUMAN
  • Q49AE1_HUMAN
  • Q53G01_HUMAN
  • Q8N675_HUMAN
genes like me logo Genes that share paralogs with CLIC5: view

Variants for CLIC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLIC5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
929957 Benign: not specified 45,914,301(-) C/T
NM_016929.5(CLIC5):c.515G>A (p.Arg172Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
930116 Likely Benign: not specified 45,941,602(-) G/A
NM_016929.5(CLIC5):c.351C>T (p.Asp117=)
SYNONYMOUS
930117 Likely Benign: not specified 45,941,611(-) C/T
NM_016929.5(CLIC5):c.342G>A (p.Ala114=)
SYNONYMOUS
rs1043716893 Likely Pathogenic: Autosomal recessive non-syndromic sensorineural deafness type DFNB 45,903,200(-) C/T
NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter)
NONSENSE,NON_CODING_TRANSCRIPT
rs114149334 Likely Benign: not specified; not provided 45,914,308(-) C/G
NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLIC5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3309n106 CNV deletion 24896259
dgv388e215 CNV deletion 23714750
esv1008384 CNV deletion 20482838
esv1256091 CNV deletion 17803354
esv2367588 CNV deletion 18987734
esv2585595 CNV deletion 19546169
esv2732026 CNV deletion 23290073
esv2759424 CNV loss 17122850
esv3309527 CNV mobile element insertion 20981092
esv3426714 CNV insertion 20981092
esv3426956 CNV insertion 20981092
esv3608874 CNV loss 21293372
esv4021 CNV loss 18987735
nsv1021917 CNV gain 25217958
nsv1025846 CNV gain 25217958
nsv1074929 CNV deletion 25765185
nsv349891 CNV deletion 16902084
nsv474863 CNV novel sequence insertion 20440878
nsv517891 CNV gain 19592680
nsv950175 CNV duplication 24416366
nsv950176 CNV duplication 24416366
nsv957551 CNV deletion 24416366

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)

Additional Variant Information for CLIC5 Gene

Human Gene Mutation Database (HGMD)
CLIC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLIC5
Leiden Open Variation Database (LOVD)
CLIC5

SNP Genotyping and Copy Number Assays for research

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

Disorders for CLIC5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CLIC5 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 103
  • dfnb103
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive
deafness, autosomal recessive 102
  • dfnb102
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for CLIC5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CLIC5: view

No data available for Genatlas for CLIC5 Gene

Publications for CLIC5 Gene

  1. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. (PMID: 24781754) Seco CZ … Schraders M (European journal of human genetics : EJHG 2015) 2 3 4 72
  2. 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 (Molecular biology of the cell 2000) 2 3 4 22
  3. CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity. (PMID: 20335315) Wegner B … Ballermann BJ (American journal of physiology. Renal physiology 2010) 3 4 22
  4. AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member. (PMID: 12163479) Shanks RA … Goldenring JR (The Journal of biological chemistry 2002) 3 4 22
  5. The CLIC5 (chloride intracellular channel 5) involved in C2C12 myoblasts proliferation and differentiation. (PMID: 20055760) Li F … Zhang H (Cell biology international 2010) 3 22

Products for CLIC5 Gene

Sources for CLIC5 Gene