OPN1MW2

Chr X

opsin 1, medium wave sensitive 2

Also known as: GOP

NCBI Gene: 728458 ENSG00000166160 UniProt: P0DN77

The encoded protein is a G-protein coupled receptor that functions as green cone photopigment (medium-wavelength sensitive opsin) for color vision by absorbing light and mediating visual signal transduction. Mutations cause deutanopic colorblindness through an X-linked recessive inheritance pattern. The pathogenic mechanism involves gain-of-function effects, often resulting from unequal recombination events between the tandemly arrayed opsin genes on the X chromosome.

ResearchSummary from RefSeq, UniProt, Mechanism

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.36

LOEUF

Multiple*

Mechanism· predicted