CLCN3
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| chloride voltage-gated channel 3 | MIM:600580 | Ensembl:ENSG00000109572 | HGNC:HGNC:2021 | PA26548 | 4q33 |
GO terms in CLCN3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005247 | voltage-gated chloride channel activity |
| MF | IDA | GO:0005254 | chloride channel activity |
| MF | TAS | GO:0005254 | chloride channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0015297 | antiporter activity |
| MF | IBA | GO:0015299 | solute:proton antiporter activity |
| MF | IDA | GO:0030165 | PDZ domain binding |
| MF | IBA | GO:0031404 | chloride ion binding |
| MF | NAS | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0046982 | protein heterodimerization activity |
| MF | IMP | GO:0072320 | volume-sensitive chloride channel activity |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IBA | GO:0005768 | endosome |
| CC | IBA | GO:0005769 | early endosome |
| CC | IDA | GO:0005769 | early endosome |
| CC | IDA | GO:0005770 | late endosome |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IBA | GO:0008021 | synaptic vesicle |
| CC | IDA | GO:0008021 | synaptic vesicle |
| CC | IDA | GO:0009897 | external side of plasma membrane |
| CC | NAS | GO:0009986 | cell surface |
| CC | IDA | GO:0012506 | vesicle membrane |
| CC | HDA | GO:0016020 | membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0030141 | secretory granule |
| CC | IEA | GO:0030658 | transport vesicle membrane |
| CC | IDA | GO:0031410 | cytoplasmic vesicle |
| CC | IEA | GO:0031901 | early endosome membrane |
| CC | IEA | GO:0031902 | late endosome membrane |
| CC | IDA | GO:0042581 | specific granule |
| CC | IDA | GO:0045335 | phagocytic vesicle |
| BP | TAS | GO:0006885 | regulation of pH |
| BP | IMP | GO:0045794 | negative regulation of cell volume |
| BP | TAS | GO:0048388 | endosomal lumen acidification |
| BP | IBA | GO:0097401 | synaptic vesicle lumen acidification |
| BP | IDA | GO:1902476 | chloride transmembrane transport |
Gene expression in normal tissue: CLCN3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CLCN3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CLCN3
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