From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000168263 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000047298 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
a
b 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 .
^
a
b 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 .
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