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 photo... See more...

Aliases for OPN4 Gene

Aliases for OPN4 Gene

  • Opsin 4 2 3 5
  • Melanopsin 2 3 4
  • MOP 3 4
  • Opsin 4 (Melanopsin) 2
  • Opsin-4 4

External Ids for OPN4 Gene

Previous GeneCards Identifiers for OPN4 Gene

  • GC10P087296
  • GC10P087636
  • GC10P088545
  • GC10P088078
  • GC10P088404
  • GC10P082268
  • GC10P088417
  • GC10P088423

Summaries for OPN4 Gene

Entrez Gene Summary for OPN4 Gene

  • 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]

GeneCards Summary for OPN4 Gene

OPN4 (Opsin 4) is a Protein Coding gene. Diseases associated with OPN4 include Intracranial Hypertension, Idiopathic and Retinitis Pigmentosa 29. Among its related pathways are Opsins and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and G protein-coupled photoreceptor activity. An important paralog of this gene is OPN3.

UniProtKB/Swiss-Prot Summary for OPN4 Gene

  • Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all-trans retinal back to 11-cis retinal (By similarity).

Gene Wiki entry for OPN4 Gene

Additional gene information for OPN4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OPN4 Gene

Genomics for OPN4 Gene

GeneHancer (GH) Regulatory Elements for OPN4 Gene

Promoters and enhancers for OPN4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J086655 Enhancer 0.7 Ensembl 758.9 -0.4 -446 0.2 IKZF1 BCL6B ZNF473 PRDM1 CREB1 ZSCAN4 ZNF207 YBX1 ZNF248 ZKSCAN1 OPN4 FJ601684-048 ENSG00000227896 LINC00863 ADIRF NUTM2A WAPL ENSG00000272631 GRID1
GH10J086654 Promoter 0.6 EPDnew 778.6 0.0 -19 0.1 ZBTB6 NRF1 CREM OPN4 FJ601684-048
GH10J086662 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 30 +15.0 14966 13.3 USF2 MYC MAX NFIB SP7 ZNF687 IKZF1 GLIS2 ZIC2 ZBTB8A LDB3 OPN4 ENSG00000272631 LOC105378409 HSALNG0079413
GH10J086647 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.8 -5.4 -5446 3.8 GATA3 TCF7L2 ZNF362 ZNF121 SP7 GLIS2 PKNOX1 ZIC2 ZBTB8A PRDM10 OPN4 LDB3 ENSG00000272631 FJ601684-048 RPL7AP8
GH10J086683 Enhancer 1.6 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 17.3 +34.3 34286 11.7 CTCF MYC MAX RAD21 PRDM1 IKZF1 GLIS2 ZIC2 RXRA REST OPN4 LDB3 BMPR1A SHLD2 HSALNG0079413
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OPN4 gene promoter:
  • AML1a
  • AP-2gamma
  • ATF
  • Pax-4a
  • Pax-5
  • RFX1
  • RORalpha1
  • Spz1
  • STAT5A
  • YY1

Genomic Locations for OPN4 Gene

Genomic Locations for OPN4 Gene
chr10:86,654,547-86,666,848
(GRCh38/hg38)
Size:
12,302 bases
Orientation:
Plus strand
chr10:88,414,314-88,426,605
(GRCh37/hg19)
Size:
12,292 bases
Orientation:
Plus strand

Genomic View for OPN4 Gene

Genes around OPN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN4 Gene

Proteins for OPN4 Gene

  • Protein details for OPN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHM6-OPN4_HUMAN
    Recommended name:
    Melanopsin
    Protein Accession:
    Q9UHM6
    Secondary Accessions:
    • B7ZLB3
    • Q14D01
    • Q2PP22
    • Q8NGQ9

    Protein attributes for OPN4 Gene

    Size:
    478 amino acids
    Molecular mass:
    52635 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05951.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for OPN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OPN4 Gene

Post-translational modifications for OPN4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OPN4 Gene

No data available for DME Specific Peptides for OPN4 Gene

Domains & Families for OPN4 Gene

Gene Families for OPN4 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for OPN4 Gene

Suggested Antigen Peptide Sequences for OPN4 Gene

GenScript: Design optimal peptide antigens:
  • Opsin-4 (OPN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHM6

UniProtKB/Swiss-Prot:

OPN4_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with OPN4: view

Function for OPN4 Gene

Molecular function for OPN4 Gene

UniProtKB/Swiss-Prot Function:
Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all-trans retinal back to 11-cis retinal (By similarity).

Phenotypes From GWAS Catalog for OPN4 Gene

Gene Ontology (GO) - Molecular Function for OPN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005502 11-cis retinal binding IDA 15674244
GO:0008020 G protein-coupled photoreceptor activity IEA,IDA 15674244
GO:0009881 photoreceptor activity IEA --
genes like me logo Genes that share ontologies with OPN4: view
genes like me logo Genes that share phenotypes with OPN4: view

Animal Models for OPN4 Gene

MGI Knock Outs for OPN4:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for OPN4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OPN4 Gene

Localization for OPN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN4 Gene

Cell membrane; Multi-pass membrane protein. Note=Found in soma, dendrites and proximal part of axons of certain retinal ganglion cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OPN4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for OPN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 10632589
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with OPN4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OPN4 Gene

Pathways & Interactions for OPN4 Gene

genes like me logo Genes that share pathways with OPN4: view

Gene Ontology (GO) - Biological Process for OPN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IBA,IDA 15674244
GO:0009584 detection of visible light IEA --
genes like me logo Genes that share ontologies with OPN4: view

No data available for SIGNOR curated interactions for OPN4 Gene

Drugs & Compounds for OPN4 Gene

(2) Drugs for OPN4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for OPN4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OPN4: view

Transcripts for OPN4 Gene

mRNA/cDNA for OPN4 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for OPN4

Alternative Splicing Database (ASD) splice patterns (SP) for OPN4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
SP1: -
SP2: -
SP3:

Relevant External Links for OPN4 Gene

GeneLoc Exon Structure for
OPN4
ECgene alternative splicing isoforms for
OPN4

Expression for OPN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OPN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OPN4 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.2), Brain - Nucleus accumbens (basal ganglia) (x6.4), Muscle - Skeletal (x4.7), Brain - Caudate (basal ganglia) (x4.3), and Adipose - Subcutaneous (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OPN4 Gene



NURSA nuclear receptor signaling pathways regulating expression of OPN4 Gene:

OPN4

SOURCE GeneReport for Unigene cluster for OPN4 Gene:

Hs.283922

mRNA Expression by UniProt/SwissProt for OPN4 Gene:

Q9UHM6-OPN4_HUMAN
Tissue specificity: Eye. Expression is restricted within the ganglion and amacrine cell layers of the retina.

Evidence on tissue expression from TISSUES for OPN4 Gene

  • Nervous system(4.5)
  • Eye(3.4)
genes like me logo Genes that share expression patterns with OPN4: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OPN4 Gene

Orthologs for OPN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for OPN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPN4 33 32
  • 99.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OPN4 33 32
  • 85.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OPN4 33 32
  • 84.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Opn4 17 33 32
  • 82.83 (n)
rat
(Rattus norvegicus)
Mammalia Opn4 32
  • 81.53 (n)
oppossum
(Monodelphis domestica)
Mammalia OPN4 33
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPN4 33
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves OPN4 32
  • 65.68 (n)
OPN4-2 33
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPN4 33
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491785 32
  • 65.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia opn4-A 32
zebrafish
(Danio rerio)
Actinopterygii opn4b 33
  • 50 (a)
OneToMany
opn4.1 33
  • 48 (a)
OneToMany
opn4a 33
  • 45 (a)
OneToMany
opn4 32
fruit fly
(Drosophila melanogaster)
Insecta ninaE 33 34 32
  • 51.39 (n)
ManyToMany
Rh6 33 34
  • 31 (a)
ManyToMany
Rh2 33 34
  • 31 (a)
ManyToMany
Rh4 33 34
  • 30 (a)
ManyToMany
Rh5 33 34
  • 27 (a)
ManyToMany
Rh3 33 34
  • 27 (a)
ManyToMany
Rh7 33 34
  • 25 (a)
ManyToMany
Species where no ortholog for OPN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OPN4 Gene

ENSEMBL:
Gene Tree for OPN4 (if available)
TreeFam:
Gene Tree for OPN4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OPN4: view image

Paralogs for OPN4 Gene

Paralogs for OPN4 Gene

(9) SIMAP similar genes for OPN4 Gene using alignment to 2 proteins:

  • OPN4_HUMAN
  • C9JWU6_HUMAN
genes like me logo Genes that share paralogs with OPN4: view

Variants for OPN4 Gene

Sequence variations from dbSNP and Humsavar for OPN4 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000043043 -- 86,659,606(+) G/A intron_variant
rs1000062127 -- 86,666,731(+) G/A downstream_transcript_variant
rs1000074284 -- 86,659,853(+) C/T intron_variant
rs1000805825 -- 86,662,346(+) C/T coding_sequence_variant, missense_variant
rs1000858027 -- 86,662,160(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OPN4 Gene

Variant ID Type Subtype PubMed ID
dgv116n27 CNV loss 19166990
dgv1320n54 CNV gain 21841781
dgv1321n54 CNV loss 21841781
dgv1322n54 CNV loss 21841781
dgv1323n54 CNV loss 21841781
dgv266e212 CNV loss 25503493
dgv948n100 CNV gain 25217958
nsv1049754 CNV gain 25217958
nsv1141879 OTHER inversion 24896259
nsv467411 CNV loss 19166990
nsv470968 CNV loss 18288195
nsv524269 CNV loss 19592680
nsv551783 CNV loss 21841781
nsv551787 CNV gain 21841781
nsv551794 CNV loss 21841781

Variation tolerance for OPN4 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OPN4 Gene

Human Gene Mutation Database (HGMD)
OPN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPN4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN4 Gene

Disorders for OPN4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for OPN4 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intracranial hypertension, idiopathic
  • pseudotumor cerebri
retinitis pigmentosa 29
  • rp29
severe nonproliferative diabetic retinopathy
  • high risk non proliferative diabetic retinopathy
ocular hypertension
  • hypertension, ocular
retinal degeneration
  • degeneration of retina
- elite association - COSMIC cancer census association via MalaCards
Search OPN4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OPN4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OPN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OPN4 Gene

Publications for OPN4 Gene

  1. A novel human opsin in the inner retina. (PMID: 10632589) Provencio I … Rollag MD (The Journal of neuroscience : the official journal of the Society for Neuroscience 2000) 2 3 4 23 56
  2. A missense variant (P10L) of the melanopsin (OPN4) gene in seasonal affective disorder. (PMID: 18804284) Roecklein KA … Provencio I (Journal of affective disorders 2009) 3 23 43 56
  3. Addition of human melanopsin renders mammalian cells photoresponsive. (PMID: 15674244) Melyan Z … Hankins MW (Nature 2005) 3 4 23 56
  4. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption. (PMID: 20554694) Kovanen L … Partonen T (Alcohol and alcoholism (Oxford, Oxfordshire) 2010) 3 43 56
  5. NPAS2 and PER2 are linked to risk factors of the metabolic syndrome. (PMID: 19470168) Englund A … Partonen T (Journal of circadian rhythms 2009) 3 43 56

Products for OPN4 Gene

Sources for OPN4 Gene