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Gene Review:

KCNV2 - potassium channel, voltage gated modifier...

Homo sapiens

Synonyms: KV11.1, Kv8.2, Potassium voltage-gated channel subfamily V member 2, RCD3B, Voltage-gated potassium channel subunit Kv8.2

Wu, H. et al., Fantozzi, I. et al., Ro, S. et al.

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High impact information on KCNV2

In situ hybridization demonstrated KCNV2 expression in human rod and cone photoreceptors [1].
The precise function of KCNV2 in human photoreceptors remains to be determined, although this work suggests that mutations might perturb or abrogate I(KX), the potassium current within vertebrate photoreceptor inner segments, which has been shown to set their resting potential and voltage response [1].
The most dramatic change was the >10-fold downregulation of KCNG2 and KCNV2, two electrically silent gamma-subunits that form heterotetramers with functional K(V) channel alpha-subunits (e.g., KCNB1-2) [2].
Template switching within exons 3 and 4 of KV11.1 (HERG) gives rise to a 5' truncated cDNA [3].

References

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Wu, H., Cowing, J.A., Michaelides, M., Wilkie, S.E., Jeffery, G., Jenkins, S.A., Mester, V., Bird, A.C., Robson, A.G., Holder, G.E., Moore, A.T., Hunt, D.M., Webster, A.R. Am. J. Hum. Genet. (2006) [Pubmed]
Bone morphogenetic protein-2 upregulates expression and function of voltage-gated K+ channels in human pulmonary artery smooth muscle cells. Fantozzi, I., Platoshyn, O., Wong, A.H., Zhang, S., Remillard, C.V., Furtado, M.R., Petrauskene, O.V., Yuan, J.X. Am. J. Physiol. Lung Cell Mol. Physiol. (2006) [Pubmed]
Template switching within exons 3 and 4 of KV11.1 (HERG) gives rise to a 5' truncated cDNA. Ro, S., Kang, S.H., Farrelly, A.M., Ordog, T., Partain, R., Fleming, N., Sanders, K.M., Kenyon, J.L., Keef, K.D. Biochem. Biophys. Res. Commun. (2006) [Pubmed]

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