CACNG3 - calcium voltage-gated channel auxiliary subunit gamma 3 Gene
Species: Homo sapiens
About CACNG3
This gene has 1 transcript (splice variant), 257 orthologues and 5 paralogues. Restricted expression toward brain (RPKM 19.9).
Summary
The protein encoded by this gene is a type I transmembrane AMPA Receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]
CACNG3 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006539.4 | NP_006530.1 | voltage-dependent calcium channel gamma-3 subunit |
CACNG3 Protein Structure
PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (7 - 195)
- 0
- 100
- 200
- 300
- 315 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
voltage-dependent calcium channel gamma-3 subunit |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Childhood Absence Epilepsy |
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| Juvenile Absence Epilepsy |
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| Epilepsy |
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| Mannosidosis, Beta A, Lysosomal |
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| Arrhythmogenic Right Ventricular Cardiomyopathy |
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| Cerebrooculofacioskeletal Syndrome 1 |
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| Episodic Kinesigenic Dyskinesia 1 |
|
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| Childhood Electroclinical Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CACNG3 | MGD | MGI:1859165 |
| Macaca mulatta | CACNG3 | VGNC | VGNC:70513 |
| Canis familiaris | CACNG3 | VGNC | VGNC:38649 |
| Rattus norvegicus | CACNG3 | RGD | RGD:628803 |
| Bos taurus | CACNG3 | VGNC | VGNC:26688 |
| Felis catus | CACNG3 | VGNC | VGNC:60310 |
| Others | CACNG3 | NCBI |