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
357433132022Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.3
357596662022The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.5
357433132022Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.3
357596662022The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.5
344403532021Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.13
344403532021Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.13
309485142019Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.7
309485142019Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates.7
293206322018Increasing the Stability of Recombinant Human Green Cone Pigment.5
293868802018Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.15
299408722018A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.3
293206322018Increasing the Stability of Recombinant Human Green Cone Pigment.5
293868802018Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.15
299408722018A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.3
280452512017A G Protein-Coupled Receptor Dimerization Interface in Human Cone Opsins.13

Citation

Dessen P

OPN1MW (opsin 1, medium wave sensitive)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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