OPN3

Chr 1

opsin 3

Also known as: ECPN, PPP1R116

NCBI Gene: 23596 ENSG00000054277 UniProt: Q9H1Y3

Opsin 3 encodes a G protein-coupled receptor that functions as a non-visual photoreceptor, binding retinal and responding to ultraviolet A and blue light to regulate melanogenesis, food intake via hypothalamic signaling, and various cellular processes including apoptosis and metabolism. The gene shows low constraint against loss-of-function variants (pLI 0.001, LOEUF 0.89), and currently no established human diseases are associated with OPN3 mutations. This opsin is expressed in multiple tissues including brain, skin, and testis, distinguishing it from the visual opsins found in the eye.

ResearchSummary from RefSeq, UniProt

Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.89

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)