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Aliases for OPN4 Gene

Aliases for OPN4 Gene

  • Opsin 4 2 3 5
  • Melanopsin 2 3
  • 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 Borderline Glaucoma and Retinitis Pigmentosa 29. Among its related pathways are RET signaling and Circadian rythm related genes. 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 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN4 Gene

Genomics for OPN4 Gene

Regulatory Elements for OPN4 Gene

Enhancers for OPN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G086662 1.5 Ensembl ENCODE dbSUPER 30 +15.0 14957 13.3 FEZF1 GLIS2 KLF7 FOS ZNF263 JUNB TSHZ1 SMARCB1 TBX21 SMARCA4 OPN4 LDB3 FAM35A ENSG00000272631 GC10M086714
GH10G086631 1.2 Ensembl ENCODE dbSUPER 27 -22.2 -22233 0.9 CTCF ZBED1 DPF2 RBBP5 TBX21 RAD21 HDAC2 POLR2A CBX5 EED OPN4 RPL7AP8 GC10P086655 GC10P086656
GH10G086644 0.8 dbSUPER 27.6 -9.6 -9569 1.1 PKNOX1 WRNIP1 KLF17 RAD21 RELB IKZF2 ZEB2 TBX21 PRDM6 GLIS1 OPN4 ENSG00000272631 GC10P086655 GC10P086656 RPL7AP8
GH10G086648 1.1 ENCODE dbSUPER 14 -5.1 -5129 2.2 FEZF1 ZBTB40 RFX5 ZNF121 GLIS2 SCRT2 RCOR1 CREM DEK ZNF263 OPN4 ENSG00000272631 GC10P086656 GC10P086655 RPL7AP8
GH10G086693 1 ENCODE dbSUPER 11.8 +39.4 39449 1.3 ZNF263 CTCF ZNF654 RB1 TRIM22 REST ZIC2 RAD21 GLIS2 GLIS1 LDB3 OPN4 GC10M086714
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OPN4 on UCSC Golden Path with GeneCards custom track

Genomic Location for OPN4 Gene

Chromosome:
10
Start:
86,654,557 bp from pter
End:
86,666,848 bp from pter
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

Protein Domains for OPN4 Gene

Suggested Antigen Peptide Sequences for OPN4 Gene

GenScript: Design optimal peptide antigens:

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).

Gene Ontology (GO) - Molecular Function for OPN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0005502 11-cis retinal binding IDA 15674244
GO:0008020 G-protein coupled photoreceptor activity 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

Inhibitory RNA Products

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
nucleus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for OPN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
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

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 IEA --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IDA,IEA 15674244
GO:0016056 rhodopsin mediated signaling pathway 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

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OPN4 Gene

Opsin 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia OPN4 34 35
  • 85.63 (n)
dog
(Canis familiaris)
Mammalia OPN4 34 35
  • 84.84 (n)
mouse
(Mus musculus)
Mammalia Opn4 34 16 35
  • 82.83 (n)
rat
(Rattus norvegicus)
Mammalia Opn4 34
  • 81.53 (n)
oppossum
(Monodelphis domestica)
Mammalia OPN4 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPN4 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves OPN4 34
  • 65.68 (n)
OPN4-2 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPN4 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491785 34
  • 65.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia opn4-A 34
zebrafish
(Danio rerio)
Actinopterygii opn4b 35
  • 50 (a)
OneToMany
opn4.1 35
  • 48 (a)
OneToMany
opn4a 35
  • 45 (a)
OneToMany
opn4 34
fruit fly
(Drosophila melanogaster)
Insecta ninaE 36 34 35
  • 51.39 (n)
Rh2 36 35
  • 38 (a)
Rh6 36 35
  • 38 (a)
Rh4 36 35
  • 34 (a)
Rh3 36 35
  • 33 (a)
Rh5 36 35
  • 33 (a)
Rh7 36 35
  • 33 (a)
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)

Paralogs for OPN4 Gene

Paralogs for OPN4 Gene

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

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 Sequence Context AA Info Type
rs1000043043 -- 86,659,606(+) CTTAT(A/G)GGGCA intron-variant
rs1000062127 -- 86,666,731(+) GAGGC(A/G)GATGG intron-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs1000074284 -- 86,659,853(+) GACTG(C/T)CACCC intron-variant
rs1000805825 -- 86,662,346(+) CCCAC(C/T)GCTCC intron-variant, reference, missense
rs1000858027 -- 86,662,160(+) CACCG(C/T)ACATT 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)

Relevant External Links for OPN4 Gene

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

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

Disorders for OPN4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
borderline glaucoma
  • preglaucoma
retinitis pigmentosa 29
  • rp29
retinal degeneration
  • degeneration of retina
optic atrophy plus syndrome
  • optic atrophy
leber optic atrophy
  • leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards
Search OPN4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for OPN4

Genetic Association Database (GAD)
OPN4
Human Genome Epidemiology (HuGE) Navigator
OPN4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OPN4
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 M.D. (J. Neurosci. 2000) 2 3 4 22 64
  2. A missense variant (P10L) of the melanopsin (OPN4) gene in seasonal affective disorder. (PMID: 18804284) Roecklein K.A. … Provencio I. (J Affect Disord 2009) 3 22 46 64
  3. Addition of human melanopsin renders mammalian cells photoresponsive. (PMID: 15674244) Melyan Z. … Hankins M.W. (Nature 2005) 3 4 22 64
  4. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption. (PMID: 20554694) Kovanen L. … Partonen T. (Alcohol Alcohol. 2010) 3 46 64
  5. NPAS2 and PER2 are linked to risk factors of the metabolic syndrome. (PMID: 19470168) Englund A. … Partonen T. (J Circadian Rhythms 2009) 3 46 64

Products for OPN4 Gene

Sources for OPN4 Gene

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