Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 169522
MIM: 607604
HGNC: 19698
Ensembl: ENSG00000168263
Variants:
dbSNP: 169522
ClinVar: 169522
TCGA: ENSG00000168263
COSMIC: KCNV2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000168263 | ENST00000382082 | Q8TDN2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| Voltage gated Potassium channels | REACTOME | R-HSA-1296072 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37852740 | 2024 | KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. | 0 |
| 37852740 | 2024 | KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. | 0 |
| 36278409 | 2023 | Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*). | 1 |
| 36278409 | 2023 | Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*). | 1 |
| 33706576 | 2022 | Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant. | 1 |
| 33706576 | 2022 | Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant. | 1 |
| 33309813 | 2021 | KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. | 9 |
| 33737031 | 2021 | KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. | 5 |
| 33960280 | 2021 | A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. | 1 |
| 34063002 | 2021 | Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1. | 4 |
| 34535971 | 2021 | Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family. | 1 |
| 33309813 | 2021 | KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. | 9 |
| 33737031 | 2021 | KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. | 5 |
| 33960280 | 2021 | A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. | 1 |
| 34063002 | 2021 | Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1. | 4 |
Citation
Dessen P
KCNV2 (potassium voltage-gated channel modifier subfamily V member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64815/kcnv2-(potassium-voltage-gated-channel-modifier-subfamily-v-member-2)
