OPN1MW (opsin 1, medium wave sensitive)

2016-10-01  

Identity

HGNC
OPN1MW
LOCATION
Xq28
LOCUSID
2652
ALIAS
CBBM,CBD,COD5,GCP,GOP,OPN1MW1

Other Information

Locus ID:

NCBI: 2652
MIM: 300821
HGNC: 4206
Ensembl: ENSG00000268221

Variants:

dbSNP: 2652
ClinVar: 2652
TCGA: ENSG00000268221
COSMIC: OPN1MW

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000268221ENST00000595290P04001
ENSG00000268221ENST00000596998H0Y642

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Diseases associated with visual transductionREACTOMER-HSA-2474795
Retinoid cycle disease eventsREACTOMER-HSA-2453864
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
OpsinsREACTOMER-HSA-419771
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Visual phototransductionREACTOMER-HSA-2187338
The retinoid cycle in cones (daylight vision)REACTOMER-HSA-2187335

References

Pubmed IDYearTitleCitations
231392742012The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.38
199566352009Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies.27
193865932009The action of 11-cis-retinol on cone opsins and intact cone photoreceptors.23
205796272010X-linked cone dystrophy caused by mutation of the red and green cone opsins.19
202200532010Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.15
280452512017A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.10
273393642016De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.8
274470862016Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.8
120516942002Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.5
263870742016Beyond spectral tuning: human cone visual pigments adopt different transient conformations for chromophore regeneration.4

Citation

Dessen P

OPN1MW (opsin 1, medium wave sensitive)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56462/opn1mw