OPN4 opsin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OPN4provided by HGNC
Official Full Name: opsin 4provided by HGNC
Primary source: HGNC:HGNC:14449
See related: Ensembl:ENSG00000122375 MIM:606665; AllianceGenome:HGNC:14449
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOP
Summary: Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (86654547..86666460)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (87538707..87550619)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (88414304..88426217)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The melanopsin-mediated pupil response is reduced in idiopathic hypersomnia with long sleep time.
Title: The melanopsin-mediated pupil response is reduced in idiopathic hypersomnia with long sleep time.
Melanopsin (Opn4) is an oncogene in cutaneous melanoma.
Title: Melanopsin (Opn4) is an oncogene in cutaneous melanoma.
Exosomal S100A4 derived from highly metastatic hepatocellular carcinoma cells promotes metastasis by activating STAT3.
Title: Exosomal S100A4 derived from highly metastatic hepatocellular carcinoma cells promotes metastasis by activating STAT3.
Targeting Opsin4/Melanopsin with a Novel Small Molecule Suppresses PKC/RAF/MEK/ERK Signaling and Inhibits Lung Adenocarcinoma Progression.
Title: Targeting Opsin4/Melanopsin with a Novel Small Molecule Suppresses PKC/RAF/MEK/ERK Signaling and Inhibits Lung Adenocarcinoma Progression.
Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans.
Title: Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans.
OPN4 belongs to the photosensitive system of the human skin.
Title: OPN4 belongs to the photosensitive system of the human skin.
Melanopsin mediates UVA-dependent modulation of proliferation, pigmentation, apoptosis, and molecular clock in normal and malignant melanocytes.
Title: Melanopsin mediates UVA-dependent modulation of proliferation, pigmentation, apoptosis, and molecular clock in normal and malignant melanocytes.
A quantitative analysis of the contribution of melanopsin to brightness perception.
Title: A quantitative analysis of the contribution of melanopsin to brightness perception.
OPN4 (Melanopsin) in retinal ganglion cells has roles in aging and disease [review]
Title: Melanopsin-expressing retinal ganglion cells in aging and disease.
Melanopsin Thr394Ile and Pro10Leu single-nucleotide polymorphisms are directly associated with altered melanopsin signaling.
Title: Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of opsin 4 (OPN4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-147992 (e-PCR)
- UniSTS:176147

OPN4_1017 (e-PCR)
- UniSTS:277544

OPN4_V272 (e-PCR)
- UniSTS:277544

SHGC-149581 (e-PCR)
- UniSTS:177093

Opn4 (e-PCR), detects polymorphism
- UniSTS:265676

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis retinal binding	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled photoreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled photoreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of temperature stimulus involved in thermoception	IEA Inferred from Electronic Annotation more info
involved_in detection of visible light	IEA Inferred from Electronic Annotation more info
involved_in hyaloid vascular plexus regression	ISS Inferred from Sequence or Structural Similarity more info
involved_in optokinetic behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in phototransduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info
involved_in thermotaxis	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in photoreceptor disc membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sperm head plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: melanopsin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001030015.3 → NP_001025186.1 melanopsin isoform 2

See identical proteins and their annotated locations for NP_001025186.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a longer protein (isoform 2) compared to isoform 1.

Source sequence(s)

AC067750, BC113558, BM672338, CD634966, CD634974

Consensus CDS

CCDS31237.1

UniProtKB/Swiss-Prot

Q9UHM6

Related

ENSP00000361141.2, ENST00000372071.7

Conserved Domains (2) summary

pfam00001
Location:87 → 361

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:78 → 256

7tm_4; Olfactory receptor
NM_033282.4 → NP_150598.1 melanopsin isoform 1

See identical proteins and their annotated locations for NP_150598.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).

Source sequence(s)

AC067750, BC113558, BM672338, CD634966

Consensus CDS

CCDS7376.1

UniProtKB/Swiss-Prot

B7ZLB3, Q14D01, Q2PP22, Q8NGQ9, Q9UHM6

Related

ENSP00000241891.5, ENST00000241891.10

Conserved Domains (2) summary

pfam00001
Location:87 → 350

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:78 → 245

7tm_4; Olfactory receptor