CLCN3 - chloride voltage-gated channel 3 Gene
Also Known as CLC3; ClC-3; NEDSBA; NEDHYBA
Species: Homo sapiens
About CLCN3
This gene has 9 transcripts (splice variants), 209 orthologues, 8 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 27.7), colon (RPKM 19.9) and 25 other tissues.
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]
CLCN3 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001243372.2 | NP_001230301.1 | H(+)/Cl(-) exchange transporter 3 isoform a |
| NM_001243374.2 | NP_001230303.2 | H(+)/Cl(-) exchange transporter 3 isoform c |
| NM_001829.4 | NP_001820.2 | H(+)/Cl(-) exchange transporter 3 isoform b |
| NM_173872.4 | NP_776297.2 | H(+)/Cl(-) exchange transporter 3 isoform e |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables PDZ domain binding |
IDA
IDA: Inferred from direct assay
|
12471024 | GOA |
| enables chloride channel activity |
IDA
IDA: Inferred from direct assay
|
11274166 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12471024 | GOA |
| enables volume-sensitive chloride channel activity |
IMP
IMP: Inferred from mutant phenotype
|
12183454 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in chloride transmembrane transport |
IDA
IDA: Inferred from direct assay
|
11274166 | GOA |
| involved in negative regulation of cell volume |
IMP
IMP: Inferred from mutant phenotype
|
12183454 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in GABA-ergic synapse |
IDA
IDA: Inferred from direct assay
|
11182090 | GOA |
| is active in GABA-ergic synapse |
IMP
IMP: Inferred from mutant phenotype
|
11182090 | GOA |
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
12471024 | GOA |
| located in cytoplasmic vesicle |
IDA
IDA: Inferred from direct assay
|
11274166 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
12471024 | GOA |
| located in external side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
11274166 | GOA |
| is active in glutamatergic synapse |
IDA
IDA: Inferred from direct assay
|
11182090 | GOA |
| is active in glutamatergic synapse |
IMP
IMP: Inferred from mutant phenotype
|
11182090 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
12471024 | GOA |
| located in phagocytic vesicle |
IDA
IDA: Inferred from direct assay
|
16522634 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
11274166 | GOA |
| located in secretory granule |
IDA
IDA: Inferred from direct assay
|
16522634 | GOA |
| located in specific granule |
IDA
IDA: Inferred from direct assay
|
16522634 | GOA |
| located in synaptic vesicle |
IDA
IDA: Inferred from direct assay
|
11182090 | GOA |
| is active in synaptic vesicle membrane |
IDA
IDA: Inferred from direct assay
|
11182090 | GOA |
| is active in synaptic vesicle membrane |
IMP
IMP: Inferred from mutant phenotype
|
11182090 | GOA |
| located in vesicle membrane |
IDA
IDA: Inferred from direct assay
|
12471024 | GOA |
CLCN3 Protein Structure
Voltage_CLC: Voltage gated chloride channel (221 - 622)
CBS: CBS domain (753 - 804)
- 0
- 200
- 400
- 600
- 818 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
H(+)/Cl(-) exchange transporter 3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
|
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
|
| Non-Specific Syndromic Intellectual Disability |
|
|
| Juxtacortical Chondrosarcoma |
|
|
| Cystic Fibrosis |
|
|
| Dent Disease 1 |
|
|
| Glioma |
|
|
| Myotonia Congenita |
|
|
| Bartter Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CLCN3 | RGD | RGD:621219 |
| Bos taurus | CLCN3 | VGNC | VGNC:27397 |
| Felis catus | CLCN3 | VGNC | VGNC:60925 |
| Macaca mulatta | CLCN3 | VGNC | VGNC:71236 |
| Canis familiaris | CLCN3 | VGNC | VGNC:39303 |
| Mus musculus | CLCN3 | MGD | MGI:103555 |
| Others | CLCN3 | NCBI |