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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- 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]
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.
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 | -- |
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 |
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
|
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dent disease 1 |
|
|
cystic fibrosis |
|
|
juxtacortical chondrosarcoma |
|
|
myotonia congenita |
|
|