Property Summary

NCBI Gene PubMed Count 21
PubMed Score 81.29
PubTator Score 154.58

Knowledge Summary

Patent (92,093)

TINX Plot

  Disease (3)

Disease Target Count
Color Blindness, Blue 1
Disease Target Count
Tritanopia 1
Disease Target Count
Tritan color blindness 1

Expression

Protein-protein Interaction (5)

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.
12690205 2003 Human chromosome 7: DNA sequence and biology.
9089077 1997 Sequences and evolution of human and squirrel monkey blue opsin genes.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8270261 1994 Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32.
3485310 1986 Molecular genetics of inherited variation in human color vision.
3303660 1986 Molecular biology of the visual pigments.
2937147 1986 Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.
2565599 1989 Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity.
1742276 1991 Design, chemical synthesis, and expression of genes for the three human color vision pigments.
1531728 1992 Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
1386496 1992 Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.