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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
External Ids for CLCN3 Gene
- HGNC: 2021
- Entrez Gene: 1182
- Ensembl: ENSG00000109572
- OMIM: 600580
- UniProtKB: P51790
Previous GeneCards Identifiers for CLCN3 Gene
- GC04P171346
- GC04P170970
- GC04P171126
- GC04P171237
- GC04P170916
- GC04P170778
- GC04P170541
- GC04P166296
Summaries 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 Dent Disease 1 and Cystic Fibrosis. Among its related pathways are Neuroscience 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
-
Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory.
Additional gene information for CLCN3 Gene
- HGNC(2021)
- Entrez Gene(1182)
- Ensembl(ENSG00000109572)
- OMIM(600580)
- UniProtKB(P51790)
- Open Targets Platform(ENSG00000109572)
- Monarch Initiative
- Search for CLCN3 at DataMed
- Search for CLCN3 at HumanCyc
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
Promoters and enhancers for CLCN3 Gene
- 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
Genomic Locations for CLCN3 Gene
- chr4:169,612,633-169,723,673
- (GRCh38/hg38)
- Size:
- 111,041 bases
- Orientation:
- Plus strand
- chr4:170,533,784-170,644,824
- (GRCh37/hg19)
- 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:
-
- 4q33 by HGNC
- 4q33 by Entrez Gene
- 4q33 by Ensembl
CLCN3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CLCN3 Gene
Proteins for CLCN3 Gene
-
Protein details for CLCN3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51790-CLCN3_HUMAN
- Recommended name:
- H(+)/Cl(-) exchange transporter 3
- Protein Accession:
- P51790
- B7Z932
- B9EGJ9
- D3DP34
- E9PB97
- O14918
- Q86Z21
Protein attributes for CLCN3 Gene
- Size:
- 818 amino acids
- Molecular mass:
- 90966 Da
- Quaternary structure:
-
- Homo- or heterodimer. 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};
- Miscellaneous:
-
- The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity).
Protein Expression for CLCN3 Gene
Post-translational modifications for CLCN3 Gene
- N-glycosylated.
-
Glycosylation at Asn177, Asn451, and Asn479
- NX_P51790 (NX_P51790-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CLCN3 Gene
Antibody Products
- G Biosciences Immunotag™ CLCN3 Antibody
- Novus Biologicals Antibodies for CLCN3
- Invitrogen Antibodies for CLCN3 (AFLGC-CLCN3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CLCN3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CLCN3
- Origene Custom Protein Services for CLCN3
- Novus Biologicals proteins for CLCN3
- antibodies-online: Show 7 available CLCN3 Proteins ranked by validation data
- Compare Top CLCN3 Proteins
-
Quality Products:
-
Abcam proteins for CLCN3
Assay Products
- antibodies-online: Show 1 available CLCN3 Elisa Kits ranked by validation data
- Compare Top CLCN3 Elisa Kits
-
Quality Products:
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
- ProtoNet:
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
P51790UniProtKB/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.
Function for CLCN3 Gene
Molecular function for CLCN3 Gene
- UniProtKB/Swiss-Prot Function:
- Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the endosome and synaptic vesicle lumen, and may thereby affect vesicle trafficking and exocytosis. May play an important role in neuronal cell function through regulation of membrane excitability by protein kinase C. It could help neuronal cells to establish short-term memory.
- GENATLAS Biochemistry:
- chloride voltage-gated channel 3,expressed in tissues derived from neuroectoderm
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for CLCN3 Gene
- MGI mutant phenotypes for CLCN3:
-
inferred from 5 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for CLCN3:
Animal Models for CLCN3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CLCN3 - Select products 50% OFF >
- * CLCN3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CLCN3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCN3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCN3
miRNA for CLCN3 Gene
- miRTarBase miRNAs that target CLCN3
-
- hsa-miR-1-3p (MIRT002737)
- hsa-miR-15a-5p (MIRT006176)
- mmu-miR-34b-5p (MIRT012705)
- mmu-miR-24-3p (MIRT013814)
- hsa-miR-335-5p (MIRT018874)
- hsa-miR-148b-3p (MIRT019489)
- hsa-miR-548b-3p (MIRT040507)
- mmu-miR-206-3p (MIRT054079)
- mmu-miR-1a-3p (MIRT054080)
- hsa-miR-570-5p (MIRT212136)
- hsa-miR-548m (MIRT212139)
- hsa-miR-548ag (MIRT212141)
- hsa-miR-548ai (MIRT212142)
- hsa-miR-548ba (MIRT212146)
- hsa-miR-4282 (MIRT212148)
- hsa-miR-183-3p (MIRT212149)
- hsa-miR-130a-3p (MIRT212150)
- hsa-miR-301a-3p (MIRT212151)
- hsa-miR-130b-3p (MIRT212152)
- hsa-miR-454-3p (MIRT212153)
- hsa-miR-301b-3p (MIRT212154)
- hsa-miR-4295 (MIRT212155)
- hsa-miR-3666 (MIRT212156)
- hsa-miR-4671-3p (MIRT212157)
- hsa-miR-3201 (MIRT444295)
- hsa-miR-573 (MIRT444296)
- hsa-miR-3185 (MIRT444297)
- hsa-miR-3616-5p (MIRT444298)
- hsa-miR-4635 (MIRT444299)
- hsa-miR-5582-3p (MIRT444300)
- hsa-miR-195-3p (MIRT538511)
- hsa-miR-16-2-3p (MIRT538512)
- hsa-miR-520e (MIRT538513)
- hsa-miR-520d-3p (MIRT538514)
- hsa-miR-520c-3p (MIRT538515)
- hsa-miR-520b (MIRT538516)
- hsa-miR-520a-3p (MIRT538517)
- hsa-miR-373-3p (MIRT538518)
- hsa-miR-372-3p (MIRT538519)
- hsa-miR-302e (MIRT538520)
- hsa-miR-302d-3p (MIRT538521)
- hsa-miR-302c-3p (MIRT538522)
- hsa-miR-302b-3p (MIRT538523)
- hsa-miR-302a-3p (MIRT538524)
- hsa-miR-519c-3p (MIRT538525)
- hsa-miR-519b-3p (MIRT538526)
- hsa-miR-519a-3p (MIRT538527)
- hsa-miR-3591-5p (MIRT558715)
- hsa-miR-4473 (MIRT558716)
- mmu-miR-129-5p (MIRT594502)
- mmu-miR-488-3p (MIRT594503)
- hsa-miR-539-5p (MIRT668978)
- hsa-miR-4484 (MIRT668979)
- hsa-miR-6768-3p (MIRT668980)
- hsa-miR-548an (MIRT668981)
- hsa-miR-1299 (MIRT762394)
- hsa-miR-206 (MIRT763731)
- hsa-miR-3182 (MIRT765272)
- hsa-miR-3668 (MIRT766568)
- hsa-miR-4782-5p (MIRT772262)
- hsa-miR-516b-5p (MIRT773462)
- hsa-miR-5706 (MIRT775245)
- hsa-miR-6128 (MIRT775812)
- hsa-miR-613 (MIRT775980)
- hsa-miR-875-3p (MIRT782519)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLCN3
- Browse OriGene Inhibitory RNA Products For CLCN3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN3
Clone Products
- Applied Biological Materials (abm): Clones for CLCN3 - Select products 50% OFF >
- * CLCN3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210671
- MG223499
- MG224327
- MG225113
- MR210671
- MR210671L3
- MR210671L4
- MR223499
- MR223499L3
- MR223499L4
- MR224327
- MR224327L3
- MR224327L4
- MR225113
- MR225113L3
- MR225113L4
- RC214128
- RC214128L3
- RC214128L4
- RC214183
- RC214183L3
- RC214183L4
- RC234881
- RC234882
- RG214128
- RG214183
- RG234881
- RG234882
- RR212863
- RR212863L3
- RR212863L4
- MR210671L3V
- MR210671L4V
- MR223499L3V
- MR223499L4V
- MR224327L3V
- MR224327L4V
- MR225113L3V
- MR225113L4V
- RC214128L3V
- RC214128L4V
- RC214183L3V
- RC214183L4V
- RR212863L3V
- RR212863L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CLCN3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCN3
Cell Line Products
-
Horizon Cell Lines for CLCN3
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. Cytoplasmic vesicle, secretory vesicle 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. Note=Isoform 2 is mainly enriched in the Golgi. {ECO:0000269 PubMed:12471024}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endosome | 5 |
| golgi apparatus | 5 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| peroxisome | 1 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005765 | lysosomal membrane | ISS | -- |
| GO:0005768 | endosome | IBA | 21873635 |
| GO:0005769 | early endosome | IBA,IDA | 12471024 |
Pathways & Interactions for CLCN3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
| 2 | Ion channel transport | ||
| 3 | Neuroscience | ||
| 4 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Cholera Infection
.40
|
|
| 5 | Hepatic ABC Transporters |
Hepatic ABC Transporters
.41
|
|
Pathways by source for CLCN3 Gene
3 Reactome pathways 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
Interacting Proteins for CLCN3 Gene
Selected Interacting proteins:
P51790-CLCN3_HUMAN
ENSP00000261514
for CLCN3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CLCN3
| 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:0045794 | negative regulation of cell volume | IMP | 12183454 |
| GO:0048388 | endosomal lumen acidification | TAS | 12471024 |
No data available for SIGNOR curated interactions for CLCN3 Gene
Drugs & Compounds for CLCN3 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) ApexBio Compounds for CLCN3 Gene
Transcripts for CLCN3 Gene
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 :
-
- ENST00000511092 582 nts (view in UCSC)
- ENST00000513761 6635 nts (view in UCSC)
- ENST00000347613 3635 nts (view in UCSC)
- ENST00000360642 3208 nts (view in UCSC)
- ENST00000512813 563 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CLCN3 - Select products 50% OFF >
- * CLCN3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CLCN3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCN3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCN3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLCN3
- Browse OriGene Inhibitory RNA Products For CLCN3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN3
Clone Products
- Applied Biological Materials (abm): Clones for CLCN3 - Select products 50% OFF >
- * CLCN3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210671
- MG223499
- MG224327
- MG225113
- MR210671
- MR210671L3
- MR210671L4
- MR223499
- MR223499L3
- MR223499L4
- MR224327
- MR224327L3
- MR224327L4
- MR225113
- MR225113L3
- MR225113L4
- RC214128
- RC214128L3
- RC214128L4
- RC214183
- RC214183L3
- RC214183L4
- RC234881
- RC234882
- RG214128
- RG214183
- RG234881
- RG234882
- RR212863
- RR212863L3
- RR212863L4
- MR210671L3V
- MR210671L4V
- MR223499L3V
- MR223499L4V
- MR224327L3V
- MR224327L4V
- MR225113L3V
- MR225113L4V
- RC214128L3V
- RC214128L4V
- RC214183L3V
- RC214183L4V
- RR212863L3V
- RR212863L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CLCN3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCN3
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCN3
SOURCE GeneReport for Unigene cluster for CLCN3 Gene:
Hs.481186mRNA 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(4.6)
- Lung(4.5)
- Eye(4.5)
- Kidney(2.9)
- Heart(2.9)
- Pancreas(2.6)
- Liver(2.5)
- Skin(2.5)
- Blood(2.2)
- Stomach(2.2)
- Adrenal gland(2.2)
- Spleen(2.1)
- Thyroid gland(2)
Primer Products
-
OriGene qPCR primer pairs for CLCN3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CLCN3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CLCN3 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CLCN3 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CLCN3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Clcn3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Clcn3 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CLCN3 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CLCN3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CLCN3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clcn3 30 |
|
||
| Str.5054 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Clcn3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | clcn3 30 31 |
|
OneToOne | |
| Dr.10303 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | ClC-c 30 31 |
|
OneToMany | |
| CG5284 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005777 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | clh-5 30 31 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E22507g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GEF1 30 31 33 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL071C 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU06624 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC19C7.11 30 |
|
- 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
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
Variants for CLCN3 Gene
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 |
|---|---|---|---|---|---|
| rs1553965256 | Uncertain Significance: Inborn genetic diseases | 169,635,960(+) | A/G | MISSENSE_VARIANT | |
| rs770732784 | Uncertain Significance: Progressive sensorineural hearing impairment | 169,713,231(+) | A/G | MISSENSE_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN3 Gene
Disorders for CLCN3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dent disease 1 |
|
|
| cystic fibrosis |
|
|
| juxtacortical chondrosarcoma |
|
|
| myotonia congenita |
|
|
Search CLCN3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CLCN3
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CLCN3 Gene
Publications for CLCN3 Gene
- 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 23
- 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 23
- 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 23
- 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 23
- 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 23
ExternalLinks
Products for CLCN3 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CLCN3
- Origene Custom Protein Services for CLCN3
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- OriGene qPCR primer pairs for CLCN3
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- MG210671
- MG223499
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- MR210671
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- RC214128
- RC214128L3
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- RC214183
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- RC234881
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- RG214128
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- RG234881
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- RR212863
- RR212863L3
- RR212863L4
- MR210671L3V
- MR210671L4V
- MR223499L3V
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- MR225113L3V
- MR225113L4V
- RC214128L3V
- RC214128L4V
- RC214183L3V
- RC214183L4V
- RR212863L3V
- RR212863L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CLCN3
- Sino Biological Human cDNA Clone for CLCN3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CLCN3
- Novus Biologicals proteins for CLCN3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for CLCN3
- Find your target
- Browse Primary Antibodies
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- Invitrogen Antibodies for CLCN3 (AFLGC-CLCN3)
- ApexBio compounds for CLCN3
- VectorBuilder Custom and pre-made DNA vectors for CLCN3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CLCN3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CLCN3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CLCN3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CLCN3
- antibodies-online: Show 72 available CLCN3 Antibodies ranked by validation data
- Compare Top CLCN3 Antibodies
- antibodies-online: Show 1 available CLCN3 Elisa Kits ranked by validation data
- Compare Top CLCN3 Elisa Kits
- Quality Products:
- antibodies-online: Show 7 available CLCN3 Proteins ranked by validation data
- Compare Top CLCN3 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for CLCN3
- Search Santa Cruz Biotechnology (SCBT) for CLCN3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CLCN3
- Horizon Cell Lines for CLCN3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCN3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCN3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CLCN3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN3
Sources for CLCN3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB