| Gene Symbol | GJB2 |
| Chromosome | 13q11-13 |
| Protein Family | Connexin family |
| Protein Type | Channel |
| Function | During sound stimulation, potassium ions enter hair cells and must be recycled back to the endolymph through supporting cells expressing GJB2. |
| Subcellular Localization | Plasma membrane (gap junction) |
| Molecular Weight | 26.2 kDa |
| UniProt ID | P29033 |
| GeneCards | GJB2 |
| Human Protein Atlas | GJB2 |
| N-terminal domain (aa 1-15) | Cytoplasmic, involved in pH gating |
| Transmembrane domains | Four α-helices forming the channel wall |
| Extracellular loops | Mediate cell-cell channel formation |
| C-terminal domain (aa 206-226) | Cytoplasmic, involved in regulation |
| [Astrocytes](/entities/astrocytes) | Forms gap junctions with other astrocytes (astrocytic network) |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsNCBI GeneHPASTRING |
No comments yet. Be the first to comment!
No comments yet. Be the first to comment!