KCNV2
Potassium Voltage-Gated Channel Modifier Subfamily V Member 2
Gene Information Card
| Symbol | KCNV2 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Modifier Subfamily V Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.2 |
| NCBI Gene ID | 169522 ncbi.nlm.nih.gov/gene/169522 |
| Ensembl ID | ENSG00000168263 |
| UniProt ID | Q8TDN2 |
| OMIM ID | 607604 |
| HGNC ID | 19698 |
| Aliases | Kv8.2, KCNV2 |
Description
KCNV2 encodes the voltage-gated potassium channel subunit Kv8.2, which modulates channel activity by forming heterotetramers with other Kv subunits. It is primarily expressed in the retina and is essential for normal photoreceptor function. Mutations in KCNV2 cause cone dystrophy with supernormal rod response (CDSRR), a rare autosomal recessive retinal disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone dystrophy with supernormal rod response (CDSRR) | Loss-of-function mutations in KCNV2 impair potassium channel function in retinal photoreceptors, leading to abnormal light responses and progressive vision loss. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | Tissue-specific |
| Brain | Low | Minimal expression |
| Testis | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not detected | No significant expression |
| HEK293 | Not detected | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1322G>A (p.Trp441*) | Nonsense | Rare | Loss of function; truncation of Kv8.2 protein |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Loss of function; impaired channel assembly |
| c.1390C>T (p.Arg464Cys) | Missense | Rare | Loss of function; altered voltage sensitivity |
Mutation functional classification
Loss of Function (LOF)
Most KCNV2 mutations result in loss of function, leading to reduced potassium conductance in photoreceptors.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting heterotetramer formation.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transport |
| • membrane depolarization | • photoreceptor cell maintenance |
Pathways
• Voltage-gated potassium channels
• Retinal signaling
Protein Summary
Kv8.2 is a modulatory subunit of voltage-gated potassium channels. It does not form functional homotetramers but co-assembles with Kv2.1 or Kv2.2 subunits to form heterotetrameric channels with altered gating properties. In the retina, Kv8.2 is critical for regulating photoreceptor excitability and light adaptation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNV2 Knockout HEK293 Cell Line | EDJ-KQ13901 | Human | 169522 | Details Get a Quote |
| KCNV2 Knockout HeLa Cell Line | EDJ-KQ58924 | Human | 169522 | Details Get a Quote |
| KCNV2 Knockout A-549 Cell Line | EDJ-KQ67412 | Human | 169522 | Details Get a Quote |
| KCNV2 Knockout HCT 116 Cell Line | EDJ-KQ75807 | Human | 169522 | Details Get a Quote |
