Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 611
MIM: 613522
HGNC: 1012
Ensembl: ENSG00000128617
Variants:
dbSNP: 611
ClinVar: 611
TCGA: ENSG00000128617
COSMIC: OPN1SW
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000128617 | ENST00000249389 | P03999 |
| ENSG00000128617 | ENST00000249389 | Q0PJU0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA451906 | warfarin | Chemical | VariantAnnotation | not associated | PD | 19794411 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32400513 | 2020 | Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency. | 3 |
| 32400513 | 2020 | Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency. | 3 |
| 28045251 | 2017 | A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins. | 13 |
| 28358949 | 2017 | Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. | 14 |
| 28045251 | 2017 | A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins. | 13 |
| 28358949 | 2017 | Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. | 14 |
| 25605338 | 2015 | Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). | 4 |
| 25605338 | 2015 | Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). | 4 |
| 23022137 | 2012 | Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. | 10 |
| 23022137 | 2012 | Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. | 10 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 19189139 | 2009 | Low-frequency vibrational modes and infrared absorbance of red, blue and green opsin. | 2 |
| 19386593 | 2009 | The action of 11-cis-retinol on cone opsins and intact cone photoreceptors. | 25 |
| 19493002 | 2009 | Expressions of rod and cone photoreceptor-like proteins in human epidermis. | 26 |
Citation
Dessen P
OPN1SW (opsin 1, short wave sensitive)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71133/case-report-explorer/
