Property Summary

NCBI Gene PubMed Count 21
Grant Count 52
R01 Count 30
Funding $5,619,092.97
PubMed Score 81.29
PubTator Score 154.58

Knowledge Summary

Patent (92,093)

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Color Blindness, Blue 1

Expression

Gene RIF (7)

PMID Text
25605338 A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia.
23022137 Individuals with the T190I S-opsin mutation behaved as mild tritans at 12.3-92.3Td, but as tritanopes at 1.2-9.2Td, for both light-adapted and dark-adapted conditions. The results are consistent with the mutant opsin causing abnormal S-cone function.
20801516 Observational study of genetic testing. (HuGE Navigator)
19493002 Immunoreactivity to anti-OPN1SW antibodies was seen in the upper layer of human epidermis & reconstructed skin. The opsin mRNA was seen in total RNA from human skin. Neither immunoreactivity nor mRNA expression was seen in cultured human keratinocytes.
19386593 11-cis-retinol had no significant effect on the activity of human blue cone opsin
19189139 Results show that, although light absorption behaves differently in blue, green and red opsins, their low-frequency vibrational motions are similar.
16961973 A novel mutation(prolin/leucine) in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect.

AA Sequence

MRKMSEEEFYLFKNISSVGPWDGPQYHIAPVWAFYLQAAFMGTVFLIGFPLNAMVLVATLRYKKLRQPLN      1 - 70
YILVNVSFGGFLLCIFSVFPVFVASCNGYFVFGRHVCALEGFLGTVAGLVTGWSLAFLAFERYIVICKPF     71 - 140
GNFRFSSKHALTVVLATWTIGIGVSIPPFFGWSRFIPEGLQCSCGPDWYTVGTKYRSESYTWFLFIFCFI    141 - 210
VPLSLICFSYTQLLRALKAVAAQQQESATTQKAEREVSRMVVVMVGSFCVCYVPYAAFAMYMVNNRNHGL    211 - 280
DLRLVTIPSFFSKSACIYNPIIYCFMNKQFQACIMKMVCGKAMTDESDTCSSQKTEVSTVSSTQVGPN      281 - 348
//

Text Mined References (21)

PMID Year Title
25605338 2015 Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
23704328 2013 Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
23022137 2012 Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
19493002 2009 Expressions of rod and cone photoreceptor-like proteins in human epidermis.
19386593 2009 The action of 11-cis-retinol on cone opsins and intact cone photoreceptors.
19189139 2009 Low-frequency vibrational modes and infrared absorbance of red, blue and green opsin.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
16961973 A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect.
12809157 2003 Color vision.
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