| Gene Symbol | Potassium Voltage-Gated Channel Modifier Subfamily V Member 2 |
| Chromosome | 9p24.2 |
| Protein Type | Channel |
| Function | KCNV2 encodes a voltage-gated potassium channel regulatory subunit that modulates the function of diverse potassium channel complexes. |
| UniProt ID | Q9EQB4 |
| NCBI Gene ID | 169165 |
| Ensembl ID | ENSG00000168243 |
| OMIM | 607355 |
| Channel modulation | KCNV2 alters voltage-dependence and kinetics of Kv channel gating |
| Surface expression | Facilitates proper trafficking and membrane localization of channel complexes |
| Retinal function | Critical for normal photoreceptor electrophysiology and survival |
| Neural excitability | Modulates neuronal firing patterns in various brain regions |
| Night Blindness (Congenital Stationary) | KCNV2 mutations can cause non-progressive night blindness without cone dystrophy in some cases [2]. |
| Retinal degeneration | Loss of KCNV2 function leads to photoreceptor degeneration through mechanisms including calcium dysregulation and metabolic stress. |
| Retina | High expression in cone and rod photoreceptors of the outer nuclear layer |
| Associated Diseases | neurodegeneration |
| Interactions | KCNB1 |
| KG Connections | 1 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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