CLCN3 Gene (Protein Coding)

Chloride Voltage-Gated Channel 3

GC04P169612
GIFtS:
43
This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl-... See more...

Aliases for CLCN3 Gene

Aliases for CLCN3 Gene

  • Chloride Voltage-Gated Channel 3 2 3 5
  • ClC-3 2 3 4
  • Chloride Channel, Voltage-Sensitive 3 2 3
  • H(+)/Cl(-) Exchange Transporter 3 3 4
  • Chloride Channel Protein 3 3 4
  • Chloride Transporter ClC-3 3 4
  • Chloride Channel 3 2 3
  • CLC3 2 3
  • CLCN3 5

External Ids for CLCN3 Gene

Previous GeneCards Identifiers for CLCN3 Gene

  • GC04P171346
  • GC04P170970
  • GC04P171126
  • GC04P171237
  • GC04P170916
  • GC04P170778
  • GC04P170541
  • GC04P166296

Summaries for CLCN3 Gene

Entrez Gene Summary for CLCN3 Gene

  • This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for CLCN3 Gene

CLCN3 (Chloride Voltage-Gated Channel 3) is a Protein Coding gene. Diseases associated with CLCN3 include Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome and Immunodeficiency 13. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel activity. An important paralog of this gene is CLCN5.

UniProtKB/Swiss-Prot Summary for CLCN3 Gene

  • [Isoform 1]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874).
  • [Isoform 2]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons.

Gene Wiki entry for CLCN3 Gene

Additional gene information for CLCN3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCN3 Gene

Genomics for CLCN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CLCN3 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
GH04J169618 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 251.7 +8.6 8638 4.7 SP1 MYC NCOR1 IKZF1 ZNF600 SSRP1 JUND ZNF592 ATF2 POLR2A CLCN3 lnc-NEK1-3 NEK1 HSALNG0038481 MG828730-042 HPF1
GH04J169610 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -0.6 -648 3.7 ZNF207 NCOR1 ZNF654 MYC IKZF1 ZNF600 JUND ATF2 POLR2A BRCA1 NEK1 CLCN3 lnc-HPF1-3 MG828730-042 SH3RF1
GH04J169656 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas 19.6 +48.3 48292 9 ZNF207 NCOR1 MYC ZNF600 IKZF1 JUND ZNF592 ATF2 POLR2A CEBPA lnc-NEK1-1 NEK1 CLCN3 piR-45471-470 MG828730-042 HPF1
GH04J169626 Enhancer 1.3 FANTOM5 Ensembl dbSUPER 9.6 +15.4 15368 4.8 NCOR1 IKZF1 NFIC REST BHLHE40 MBD2 MNT ARNT NFATC3 TAF9B NEK1 CLCN3 lnc-NEK1-3 HSALNG0038481 MG828730-042 HPF1
GH04J169648 Enhancer 1 Ensembl ENCODE 12.2 +37.4 37368 2 NCOR1 IKZF1 ZNF592 NFIC NONO ARNT TAF9B NBN FOXA2 RXRA NEK1 CLCN3 SH3RF1 HSALNG0038481 lnc-NEK1-1 MG828730-042 HPF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLCN3

Top Transcription factor binding sites by QIAGEN in the CLCN3 gene promoter:
  • AhR
  • AML1a
  • ATF6
  • C/EBPalpha
  • Cdc5
  • FOXC1
  • FOXD3
  • Gfi-1
  • POU3F2 (N-Oct-5b)
  • Sox5

Genomic Locations for CLCN3 Gene

Latest Assembly
chr4:169,612,633-169,723,673
(GRCh38/hg38)
Size:
111,041 bases
Orientation:
Plus strand

Previous Assembly
chr4:170,541,729-170,644,824
(GRCh37/hg19 by Entrez Gene)
Size:
103,096 bases
Orientation:
Plus strand

chr4:170,533,784-170,644,824
(GRCh37/hg19 by Ensembl)
Size:
111,041 bases
Orientation:
Plus strand

Genomic View for CLCN3 Gene

Genes around CLCN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCN3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CLCN3 Gene

Proteins for CLCN3 Gene

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  • Protein details for CLCN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51790-CLCN3_HUMAN
    Recommended name:
    H(+)/Cl(-) exchange transporter 3
    Protein Accession:
    P51790
    Secondary Accessions:
    • B7Z932
    • B9EGJ9
    • D3DP34
    • E9PB97
    • O14918
    • Q86Z21

    Protein attributes for CLCN3 Gene

    Size:
    818 amino acids
    Molecular mass:
    90966 Da
    Quaternary structure:
    • [Isoform 1]: Monomer and homodimer (By similarity). Forms heterodimers with CLCN4 (By similarity).
    • [Isoform 2]: Interacts with GOPC, PDZK1 and SLC9A3R1/EBP50.
    SequenceCaution:
    • Sequence=BAC54560.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA55281.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CLCN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCN3 Gene

Protein Expression for CLCN3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CLCN3 Gene

Other Protein References for CLCN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLCN3 Gene

Domains & Families for CLCN3 Gene

Gene Families for CLCN3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CLCN3 Gene

InterPro:
Blocks:
  • CBS domain
  • Chloride channel signature
  • CLC-3 chloride channel signature

Suggested Antigen Peptide Sequences for CLCN3 Gene

GenScript: Design optimal peptide antigens:
  • Chloride transporter ClC-3 (CLCN3_HUMAN)
  • CLCN3 protein (Q7Z4M4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51790

UniProtKB/Swiss-Prot:

CLCN3_HUMAN :
  • Isoform 2 contains a C-terminal PDZ-binding motif mediating the interaction with GOPC.
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-3/CLCN3 subfamily.
Domain:
  • Isoform 2 contains a C-terminal PDZ-binding motif mediating the interaction with GOPC.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-3/CLCN3 subfamily.
genes like me logo Genes that share domains with CLCN3: view

Function for CLCN3 Gene

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Molecular function for CLCN3 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons.
GENATLAS Biochemistry:
chloride voltage-gated channel 3,expressed in tissues derived from neuroectoderm

Phenotypes From GWAS Catalog for CLCN3 Gene

Gene Ontology (GO) - Molecular Function for CLCN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005247 voltage-gated chloride channel activity IEA,IBA 21873635
GO:0005254 chloride channel activity IDA,TAS 12471024
GO:0005515 protein binding IPI 12471024
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CLCN3: view
genes like me logo Genes that share phenotypes with CLCN3: view

Animal Models for CLCN3 Gene

MGI Knock Outs for CLCN3:

Animal Models for research

miRNA for CLCN3 Gene

miRTarBase miRNAs that target CLCN3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLCN3 Gene

Localization for CLCN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN3 Gene

[Isoform 1]: Early endosome membrane. Multi-pass membrane protein. Late endosome membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Note=Isoform 1 is localized mainly in late endosomes. {ECO:0000269 PubMed:12471024}.
[Isoform 2]: Golgi apparatus membrane. Multi-pass membrane protein. Cell projection, ruffle membrane. Multi-pass membrane protein. Note=Isoform 2 is mainly enriched in the Golgi (PubMed:12471024). Colocalizes with SLC9A3R1/EBP50 in membrane ruffles (PubMed:11967229). {ECO:0000269 PubMed:11967229, ECO:0000269 PubMed:12471024}.

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 CLCN3 gene
Compartment Confidence
plasma membrane 5
endosome 5
golgi apparatus 5
lysosome 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLCN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,ISS --
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA,IDA 12471024
genes like me logo Genes that share ontologies with CLCN3: view

Pathways & Interactions for CLCN3 Gene

genes like me logo Genes that share pathways with CLCN3: view

Pathways by source for CLCN3 Gene

1 KEGG pathway for CLCN3 Gene
5 Qiagen pathways for CLCN3 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cholera Infection
  • Hepatic ABC Transporters
  • PKA Signaling
1 Cell Signaling Technology pathway for CLCN3 Gene

Gene Ontology (GO) - Biological Process for CLCN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006885 regulation of pH TAS 12471024
GO:0006911 phagocytosis, engulfment IEA --
GO:0008344 adult locomotory behavior IEA --
genes like me logo Genes that share ontologies with CLCN3: view

No data available for SIGNOR curated interactions for CLCN3 Gene

Drugs & Compounds for CLCN3 Gene

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(10) Drugs for CLCN3 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phloretin Experimental Pharma Channel blocker A dihydrochalcone found in apple 0
Chloride ion Experimental Pharma 0
9-AC Pharma 0
DCPIB Pharma 0
GaTx2 Pharma 0

(2) Additional Compounds for CLCN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for CLCN3 Gene

Compound Action Cas Number
9-AC 723-62-6
DCPIB 82749-70-0
GaTx2 194665-85-5
NPPB inhibitor of chloride channel 107254-86-4
genes like me logo Genes that share compounds with CLCN3: view

Drug products for research

Transcripts for CLCN3 Gene

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mRNA/cDNA for CLCN3 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 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 CLCN3

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
SP1: - - - -
SP2: - - - - -
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CLCN3 Gene

GeneLoc Exon Structure for
CLCN3

Expression for CLCN3 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLCN3 Gene

mRNA expression in normal human tissues for CLCN3 Gene
mRNA expression by GTEx for CLCN3 GenemRNA expression by BioGPS for CLCN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLCN3 Gene

This gene is overexpressed in Cervix (43.6) and Breast (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLCN3 Gene



Protein tissue co-expression partners for CLCN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCN3

SOURCE GeneReport for Unigene cluster for CLCN3 Gene:

Hs.481186

mRNA Expression by UniProt/SwissProt for CLCN3 Gene:

P51790-CLCN3_HUMAN
Tissue specificity: Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Also expressed in tracheal and alveolar epithelial cells, and intima and media of the pulmonary vessels. Expressed in bronchus and colon (at protein level).

Evidence on tissue expression from TISSUES for CLCN3 Gene

  • Nervous system(4.6)
  • Intestine(4.6)
  • Muscle(4.5)
  • Lung(4.5)
  • Eye(4.5)
  • Kidney(2.8)
  • Heart(2.7)
  • Pancreas(2.5)
  • Liver(2.4)
  • Skin(2.3)
  • Stomach(2.1)
  • Adrenal gland(2.1)
  • Blood(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with CLCN3: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCN3 Gene

Orthologs for CLCN3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CLCN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CLCN3 29 30
  • 99.85 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CLCN3 30
  • 98 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CLCN3 30
  • 97 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CLCN3 29 30
  • 94.07 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Clcn3 29 16 30
  • 92.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Clcn3 29
  • 91.56 (n)
Cow
(Bos Taurus)
 Mammalia CLCN3 29 30
  • 83.83 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves CLCN3 29 30
  • 87.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CLCN3 30
  • 95 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia clcn3 29
  • 79.01 (n)
Str.5054 29
African clawed frog
(Xenopus laevis)
 Amphibia Clcn3 29
Zebrafish
(Danio rerio)
 Actinopterygii clcn3 29 30
  • 74.84 (n)
 OneToOne
Dr.10303 29
Fruit Fly
(Drosophila melanogaster)
 Insecta ClC-c 29 30
  • 60.65 (n)
 OneToMany
CG5284 31
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005777 29
  • 59.81 (n)
Worm
(Caenorhabditis elegans)
 Secernentea clh-5 29 30
  • 57.24 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E22507g 29
  • 47.47 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GEF1 29 30 32
  • 47.35 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AEL071C 29
  • 46.27 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 59 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06624 29
  • 50.68 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPBC19C7.11 29
  • 47.01 (n)
Species where no ortholog for CLCN3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 CLCN3 Gene

ENSEMBL:
Gene Tree for CLCN3 (if available)
TreeFam:
Gene Tree for CLCN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCN3: view image
Alliance of Genome Resources:
Additional Orthologs for CLCN3

Paralogs for CLCN3 Gene

Paralogs for CLCN3 Gene

(4) SIMAP similar genes for CLCN3 Gene using alignment to 7 proteins:

  • CLCN3_HUMAN
  • B9EGJ9_HUMAN
  • D6RDZ6_HUMAN
  • D6RIX3_HUMAN
  • E9PE15_HUMAN
  • H0Y8Z8_HUMAN
  • Q7Z4M4_HUMAN

Pseudogenes.org Pseudogenes for CLCN3 Gene

genes like me logo Genes that share paralogs with CLCN3: view

Variants for CLCN3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLCN3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
929948 Likely Pathogenic: Neurodevelopmental disorder 169,704,143(+) C/T
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) 		MISSENSE
986034 Uncertain Significance: Inborn genetic diseases 169,697,529(+) G/T
NM_001829.4(CLCN3):c.1358G>T (p.Ser453Ile) 		MISSENSE
995566 Pathogenic: Neurodevelopmental delay 169,692,139(+) T/C
NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr) 		MISSENSE
rs1553965256 Uncertain Significance: Inborn genetic diseases 169,635,960(+) A/G
NM_001829.4(CLCN3):c.32A>G (p.Tyr11Cys) 		MISSENSE
rs770732784 Uncertain Significance: Progressive sensorineural hearing impairment 169,713,231(+) A/G
NM_001829.4(CLCN3):c.2302A>G (p.Met768Val) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLCN3 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 CLCN3 Gene

Variant ID Type Subtype PubMed ID
dgv5468n100 CNV gain 25217958
nsv4600 CNV insertion 18451855
nsv518832 CNV loss 19592680

Variation tolerance for CLCN3 Gene

Residual Variation Intolerance Score: 7.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCN3
Leiden Open Variation Database (LOVD)
CLCN3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN3 Gene

Disorders for CLCN3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CLCN3 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CLCN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLCN3

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 CLCN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLCN3 Gene

Publications for CLCN3 Gene

  1. The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins. (PMID: 12471024) Gentzsch M … Riordan JR (The Journal of biological chemistry 2003) 3 4 22
  2. Molecular interaction and functional regulation of ClC-3 by Ca2+/calmodulin-dependent protein kinase II (CaMKII) in human malignant glioma. (PMID: 20139089) Cuddapah VA … Sontheimer H (The Journal of biological chemistry 2010) 3 22
  3. Cardiac-specific overexpression of the human short CLC-3 chloride channel isoform in mice. (PMID: 18986326) Xiong D … Hume JR (Clinical and experimental pharmacology & physiology 2009) 3 22
  4. ClC-3 is required for LPA-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. (PMID: 18077605) Yin Z … Watsky MA (American journal of physiology. Cell physiology 2008) 3 22
  5. Overexpression of CLC-3 in HEK293T cells yields novel currents that are pH dependent. (PMID: 17977943) Matsuda JJ … Lamb FS (American journal of physiology. Cell physiology 2008) 3 22

ExternalLinks

View latest publications for CLCN3 gene in Mastermind

Products for CLCN3 Gene

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