KCNV2 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 2) encodes a regulatory subunit of voltage-gated potassium channels. This protein modulates channel function by altering gating properties and surface expression. Pathogenic variants in KCNV2 cause autosomal recessive cone dystrophy and night blindness (RCD), a retinal disorder characterized by progressive loss of cone and rod photoreceptor function. [1]
| Property | Value |
|---|---|
| Gene Symbol | KCNV2 |
| Gene Name | Potassium Voltage-Gated Channel Modifier Subfamily V Member 2 |
| Chromosomal Location | 9p24.2 |
| NCBI Gene ID | 169165 |
| OMIM | 607355 |
| UniProt | Q9EQB4 |
| Ensembl ID | ENSG00000168243 |
| Aliases | KV Channel-Interacting Protein KCNIP2 |
KCNV2 encodes a voltage-gated potassium channel regulatory subunit that modulates the function of diverse potassium channel complexes. KCNV2 belongs to the KCNIP (K+ channel interacting protein) family, which do not form functional channels alone but assemble with Kv channel alpha subunits to create modulatory subunits.
Key functions include:
In the retina, KCNV2 co-assembles with Kv8.2 (KCNV1) to form native channels in cone and rod photoreceptors. These channels help set the resting membrane potential and regulate the dark current essential for phototransduction.
Pathogenic variants in KCNV2 cause:
KCNV2 is expressed in:
In the brain, KCNV2-containing channels regulate neuronal excitability and may play roles in synaptic integration and action potential repolarization.