OPN5 (Opsin 5)

A non-visual opsin involved in phototransduction and circadian rhythm regulation

Gene Information Card

Symbol OPN5
Full Name Opsin 5
Gene Type Protein coding
Chromosomal Location 6p12.3
NCBI Gene ID 221391 ncbi.nlm.nih.gov/gene/221391
Ensembl ID ENSG00000124818
UniProt ID Q6U736
OMIM ID 609337
HGNC ID 17165
Aliases GPR136, PGR12, neuropsin

Description

OPN5 (opsin 5) encodes a member of the opsin family of G protein-coupled receptors (GPCRs) that functions as a non-visual photoreceptor. It is sensitive to UV light (peak ~380 nm) and mediates phototransduction in various tissues, including the retina, skin, and brain. OPN5 plays a role in circadian photoentrainment, melanocyte pigmentation, and seasonal adaptation. It is also known as neuropsin.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Seasonal affective disorder (SAD) OPN5 mediates UV light sensing in the retina and skin, influencing mood and circadian rhythms; dysregulation may contribute to SAD PMID: 25855297
Melanoma OPN5 expression in melanocytes regulates UV-induced melanin synthesis; altered signaling may affect melanoma risk PMID: 25855297
Circadian rhythm sleep disorders OPN5 contributes to photoentrainment of the suprachiasmatic nucleus; variants may disrupt circadian timing PMID: 25855297

Expression Profile

Tissue Expression
Tissue nTPM level
Retina 0.6 Low
Skin 1.2 Low
Brain (cerebellum) 0.3 Low
Testis 0.1 Not detected
Liver 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 0.0 Not detected
Melanocytes 1.5 Low
Retinal pigment epithelium (RPE) 0.8 Low
SH-SY5Y 0.2 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.100C>T (p.Arg34Trp) Missense <0.01% Unknown functional effect
c.457G>A (p.Gly153Ser) Missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function variants reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function variants reported.

Dominant Negative (DN)

No confirmed dominant-negative variants reported.

Pathways

• Phototransduction (KEGG: hsa04744)
• GPCR signaling (Reactome: R-HSA-372790)

Protein Summary

OPN5 (neuropsin) is a 337-amino acid G protein-coupled receptor with seven transmembrane domains. It binds 11-cis-retinal as a chromophore and is activated by UV-A light (380 nm). Upon photoactivation, it couples to Gi/o proteins, leading to modulation of intracellular cAMP levels. OPN5 is expressed in retinal ganglion cells, keratinocytes, melanocytes, and brain regions involved in circadian regulation. It is essential for UV-induced melanogenesis and seasonal mood regulation.

Related Products

Product name Cat.No. Species Gene ID
OPN5 Knockout HEK293 Cell Line EDJ-KQ8816 Human 221391 Details Get a Quote
OPN5 Knockout HeLa Cell Line EDJ-KQ59161 Human 221391 Details Get a Quote
OPN5 Knockout A-549 Cell Line EDJ-KQ67635 Human 221391 Details Get a Quote
OPN5 Knockout HCT 116 Cell Line EDJ-KQ76019 Human 221391 Details Get a Quote
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