KCNV2

KCNV2
Identifiers
Aliases	KCNV2 , KV11.1, Kv8.2, RCD3B, potassium voltage-gated channel modifier subfamily V member 2
External IDs	OMIM: 607604; MGI: 2670981; HomoloGene: 26423; GeneCards: KCNV2; OMA:KCNV2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p24.2 Start 2,717,510 bp [1] End 2,730,037 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 C1 Start 27,299,988 bp [2] End 27,314,579 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm testicle gonad retinal pigment epithelium right testis left testis sural nerve pancreatic ductal cell right hemisphere of cerebellum ganglionic eminence Top expressed in neural layer of retina outer nuclear layer embryo blastocyst gastrula lumbar subsegment of spinal cord inner nuclear layer zygote lumbar spinal ganglion sternocleidomastoid muscle More reference expression data BioGPS n/a
Gene ontology Molecular function ion channel activity potassium channel activity voltage-gated ion channel activity voltage-gated potassium channel activity Cellular component integral component of membrane voltage-gated potassium channel complex plasma membrane membrane Biological process potassium ion transport regulation of ion transmembrane transport protein homooligomerization ion transport transmembrane transport potassium ion transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 169522 240595 Ensembl ENSG00000168263 ENSMUSG00000047298 UniProt Q8TDN2 Q8CFS6 RefSeq (mRNA) NM_133497 NM_183179 RefSeq (protein) NP_598004 NP_899002 Location (UCSC) Chr 9: 2.72 – 2.73 Mb Chr 19: 27.3 – 27.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Potassium voltage-gated channel subfamily V member 2 is a protein that in humans is encoded by the KCNV2 gene. ^{[5] [6]} The protein encoded by this gene is a voltage-gated potassium channel subunit. ^{[5] [6]}

KCNV2 retinopathy

KCNV2 retinopathy, historically referred to as cone dystrophy with supernormal rod electroretinogram, is a rare autosomal recessive inherited retinal dystrophy caused by biallelic pathogenic variants in the KCNV2 gene. ^[7] The condition typically presents in childhood with reduced visual acuity, photophobia, impaired color vision, and progressive central visual loss, while night vision may be relatively preserved in early stages.

A defining feature of the disorder is a characteristic full-field electroretinography profile. Scotopic responses may show disproportionately large b-wave amplitudes at higher stimulus intensities, whereas photopic responses are markedly delayed and reduced. This electrophysiological pattern is considered highly suggestive of KCNV2-associated retinopathy and may be present even when funduscopic or structural retinal changes are minimal. ^[8]

The KCNV2 gene encodes a modulatory subunit of voltage-gated potassium channels expressed in photoreceptors. Pathogenic variants are thought to disrupt normal photoreceptor signaling, resulting in combined cone dysfunction and abnormal rod responses. Additional descriptive electrophysiological and genetic case documentation has been made available through open research repositories. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000168263 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047298 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ (Jun 2002). "Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome". Proc Natl Acad Sci U S A. 99 (12): 7986–91. Bibcode:2002PNAS...99.7986O. doi: 10.1073/pnas.122617999 . PMC   123007 . PMID   12060745.
6. Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID   16382104. S2CID   219195192.
7. Wu H, Cowing JA, Michaelides M, et al. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause cone dystrophy with supernormal rod electroretinogram in humans. American Journal of Human Genetics. 2006;79(3):574–579. doi:10.1086/507568.
8. Wissinger B, Dangel S, Jägle H, et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Investigative Ophthalmology & Visual Science. 2008;49(2):751–757. doi:10.1167/iovs.07-0471.
9. Lindamulage, Suneth Dayan. "Speaking Waves, Silent Genes: The Mystery of the Whispering Retina — Unraveling the ERG–WES Paradox in Cone Dystrophy with Supernormal Rod Response (CDSRR) - First clinically and electrophysiologically reported case of KCNV2 Retinopathy from Sri Lanka". Figshare. Retrieved 2026-01-30– via DOI.

Further reading

• Wu H, Cowing JA, Michaelides M, et al. (2006). "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans". Am. J. Hum. Genet. 79 (3): 574–9. doi:10.1086/507568. PMC   1559534 . PMID   16909397.
• Ben Salah S; Kamei S; Sénéćhal A; et al. (2008). "Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram". Am. J. Ophthalmol. 145 (6): 1099–106. doi:10.1016/j.ajo.2008.02.004. PMID   18400204. S2CID   8716306.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Balijepalli RC, Delisle BP, Balijepalli SY, et al. (2007). "Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol". Channels (Austin). 1 (4): 263–72. doi: 10.4161/chan.4946 . PMID   18708743.
• Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Mol. Vis. 8: 196–204. PMID   12107411.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Thiagalingam S, McGee TL, Weleber RG, et al. (2007). "Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram". Ophthalmic Genet. 28 (3): 135–42. doi:10.1080/13816810701503681. PMID   17896311. S2CID   6288000.
• Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC   2734081 . PMID   15164053.
• Wissinger B, Dangel S, Jägle H, et al. (2008). "Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2". Invest. Ophthalmol. Vis. Sci. 49 (2): 751–7. doi: 10.1167/iovs.07-0471 . PMID   18235024.

External links

• Kv8.2+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• KCNV2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)