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Aliases for OPN1MW2 Gene

Aliases for OPN1MW2 Gene

  • Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 2 2 3
  • Green Cone Photoreceptor Pigment 3 4
  • Green-Sensitive Opsin 3 4
  • GOP 3 4
  • Medium-Wave-Sensitive Opsin 1 3
  • OPN1MW OPN1MW2 4
  • GCP 4

External Ids for OPN1MW2 Gene

Previous GeneCards Identifiers for OPN1MW2 Gene

  • GC0XU900626
  • GC0XP153138
  • GC0XP153485

Summaries for OPN1MW2 Gene

Entrez Gene Summary for OPN1MW2 Gene

  • This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]

GeneCards Summary for OPN1MW2 Gene

OPN1MW2 (Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 2) is a Protein Coding gene. Diseases associated with OPN1MW2 include blue cone monochromacy and thyroid hormone resistance. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include G-protein coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1SW.

UniProtKB/Swiss-Prot for OPN1MW2 Gene

  • Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPN1MW2 Gene

Genomics for OPN1MW2 Gene

Regulatory Elements for OPN1MW2 Gene

Genomic Location for OPN1MW2 Gene

Start:
154,219,734 bp from pter
End:
154,233,286 bp from pter
Size:
13,553 bases
Orientation:
Plus strand

Genomic View for OPN1MW2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPN1MW2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1MW2 Gene

Proteins for OPN1MW2 Gene

  • Protein details for OPN1MW2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04001-OPSG_HUMAN
    Recommended name:
    Medium-wave-sensitive opsin 1
    Protein Accession:
    P04001
    Secondary Accessions:

    Protein attributes for OPN1MW2 Gene

    Size:
    364 amino acids
    Molecular mass:
    D Da
    Quaternary structure:
    No Data Available

neXtProt entry for OPN1MW2 Gene

Proteomics data for OPN1MW2 Gene at MOPED

Post-translational modifications for OPN1MW2 Gene

  • Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region
  • Glycosylation at Asn34
  • Modification sites at PhosphoSitePlus

Other Protein References for OPN1MW2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1MW2 Gene

Domains for OPN1MW2 Gene

Gene Families for OPN1MW2 Gene

HGNC:
  • OPN :GPCR / Class A : Opsin receptors

Protein Domains for OPN1MW2 Gene

Suggested Antigen Peptide Sequences for OPN1MW2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04001

UniProtKB/Swiss-Prot:

OPSG_HUMAN :
  • P04001
Family:
  • Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
genes like me logo Genes that share domains with OPN1MW2: view

Function for OPN1MW2 Gene

Molecular function for OPN1MW2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Absorption: Abs(max)=530 nm;
UniProtKB/Swiss-Prot Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal

Gene Ontology (GO) - Molecular Function for OPN1MW2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity IEA --
GO:0009881 photoreceptor activity IMP 8185948
genes like me logo Genes that share ontologies with OPN1MW2: view

miRNA for OPN1MW2 Gene

miRTarBase miRNAs that target OPN1MW2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for OPN1MW2 Gene

Localization for OPN1MW2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1MW2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPN1MW2 Gene COMPARTMENTS Subcellular localization image for OPN1MW2 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for OPN1MW2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 20579627
GO:0005887 integral component of plasma membrane TAS 2937147
GO:0016021 integral component of membrane --
GO:0042622 photoreceptor outer segment membrane TAS --
genes like me logo Genes that share ontologies with OPN1MW2: view

Pathways for OPN1MW2 Gene

genes like me logo Genes that share pathways with OPN1MW2: view

Pathways by source for OPN1MW2 Gene

Gene Ontology (GO) - Biological Process for OPN1MW2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0018298 protein-chromophore linkage IEA --
genes like me logo Genes that share ontologies with OPN1MW2: view

Transcripts for OPN1MW2 Gene

mRNA/cDNA for OPN1MW2 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OPN1MW2 Gene

Opsin 1 (cone pigments), medium-wave-sensitive 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1MW2 Gene

No ASD Table

Relevant External Links for OPN1MW2 Gene

GeneLoc Exon Structure for
OPN1MW2
ECgene alternative splicing isoforms for
OPN1MW2

Expression for OPN1MW2 Gene

mRNA expression in normal human tissues for OPN1MW2 Gene

SOURCE GeneReport for Unigene cluster for OPN1MW2 Gene Hs.571751

mRNA Expression by UniProt/SwissProt for OPN1MW2 Gene

P04001-OPSG_HUMAN
Tissue specificity: The three color pigments are found in the cone photoreceptor cells
genes like me logo Genes that share expressions with OPN1MW2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein expression for OPN1MW2 Gene

Orthologs for OPN1MW2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OPN1MW2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OPN1LW 36
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia OPN1LW 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Opn1mw 36
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia OPN1LW 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia OPN1LW 36
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves OPNP 36
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 80 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii opn1lw1 36
  • 77 (a)
ManyToMany
opn1lw2 36
  • 77 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
CSA.11297 36
  • 39 (a)
ManyToMany
Species with no ortholog for OPN1MW2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OPN1MW2 Gene

ENSEMBL:
Gene Tree for OPN1MW2 (if available)
TreeFam:
Gene Tree for OPN1MW2 (if available)

Paralogs for OPN1MW2 Gene

Paralogs for OPN1MW2 Gene

Selected SIMAP similar genes for OPN1MW2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with OPN1MW2: view

Variants for OPN1MW2 Gene

Sequence variations from dbSNP and Humsavar for OPN1MW2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1065436 -- 154,230,638(+) TCTGC(G/T)TCTGC missense, reference
rs1065437 -- 154,230,652(+) GGACC(A/C/T)TACGC synonymous-codon, reference
rs1065438 -- 154,230,656(+) CCTAC(A/G)CCTTC missense, reference
rs2157098 -- 154,221,542(+) taaca(A/G)tattt intron-variant
rs112842419 -- 154,223,865(+) TAAAT(G/T)TATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPN1MW2 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7161 CNV Loss 18451855
esv27518 CNV Gain+Loss 19812545
nsv515186 CNV Complex 21397061

Relevant External Links for OPN1MW2 Gene

HapMap Linkage Disequilibrium report
OPN1MW2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN1MW2 Gene

Disorders for OPN1MW2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for OPN1MW2 Gene including...

Search for OPN1MW2 Gene in MalaCards »

UniProtKB/Swiss-Prot

OPSG_HUMAN
  • Colorblindness, partial, deutan series (CBD) [MIM:303800]: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. {ECO:0000269 PubMed:12051694, ECO:0000269 PubMed:1302020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269 PubMed:8666378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone dystrophy 5 (COD5) [MIM:303700]: A X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269 PubMed:20579627}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for OPN1MW2 Gene

genes like me logo Genes that share disorders with OPN1MW2: view

Publications for OPN1MW2 Gene

  1. Defective colour vision associated with a missense mutation in the human green visual pigment gene. (PMID: 1302020) Winderickx J. … Deeb S.S. (Nat. Genet. 1992) 3 4
  2. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. (PMID: 2937147) Nathans J. … Hogness D.S. (Science 1986) 3 4
  3. Molecular biology of the visual pigments. (PMID: 3303660) Applebury M.L. … Hargrave P.A. (Vision Res. 1986) 3 4
  4. X-linked cone dystrophy caused by mutation of the red and green cone opsins. (PMID: 20579627) Gardner J.C. … Hardcastle A.J. (Am. J. Hum. Genet. 2010) 3 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4

Products for OPN1MW2 Gene

Sources for OPN1MW2 Gene

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