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 med... See more...

Aliases for OPN1MW Gene

Aliases for OPN1MW Gene

  • Opsin 1, Medium Wave Sensitive 2 3 5
  • Green Cone Photoreceptor Pigment 2 3 4
  • Opsin 1 (Cone Pigments), Medium-Wave-Sensitive 2 3
  • Medium-Wave-Sensitive Opsin 1 3 4
  • Cone Dystrophy 5 (X-Linked) 2 3
  • Green-Sensitive Opsin 3 4
  • OPN1MW1 2 3
  • COD5 2 3
  • GCP 3 4
  • GOP 3 4
  • Color Blindness, Deutan 2
  • Photopigment Apoprotein 3
  • Green Cone Pigment 3
  • OPN1MW 5
  • CBBM 3
  • CBD 3

External Ids for OPN1MW Gene

Previous HGNC Symbols for OPN1MW Gene

  • GCP
  • CBBM
  • CBD

Previous GeneCards Identifiers for OPN1MW Gene

  • GC0XP148439
  • GC0XP150757
  • GC0XP151033
  • GC0XP151953
  • GC0XP151917
  • GC0XP152969
  • GC0XP153101
  • GC0XP153448

Summaries for OPN1MW Gene

Entrez Gene Summary for OPN1MW 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 OPN1MW Gene

OPN1MW (Opsin 1, Medium Wave Sensitive) is a Protein Coding gene. Diseases associated with OPN1MW include Colorblindness, Partial, Deutan Series and Blue Cone Monochromacy. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and photoreceptor activity. An important paralog of this gene is OPN1MW2.

UniProtKB/Swiss-Prot Summary for OPN1MW Gene

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

Gene Wiki entry for OPN1MW Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OPN1MW Gene

Genomics for OPN1MW Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OPN1MW 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
GH0XJ154209 Promoter 0.4 Ensembl 0.3 +27.4 27405 2 ATF3 RF00017-8813 OPN1MW2 TEX28P1 OPN1MW
GH0XJ154179 Enhancer 0.2 Ensembl 0.7 -2.3 -2295 1 NONHSAG055578.2-001 TEX28P2 OPN1MW OPN1LW
GH0XJ154190 Enhancer 0.2 Ensembl 0.4 +8.3 8304 0.2 NONHSAG055579.2 piR-48820-105 OPN1MW OPN1MW2
GH0XJ154191 Enhancer 0.2 Ensembl 0.4 +8.7 8705 0.2 NONHSAG055579.2 piR-48820-105 OPN1MW OPN1MW2
GH0XJ154194 Enhancer 0.2 Ensembl 0.4 +12.0 12005 1.6 NONHSAG055579.2 RF00017-8813 OPN1MW OPN1MW2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OPN1MW on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OPN1MW

Top Transcription factor binding sites by QIAGEN in the OPN1MW gene promoter:
  • CREB
  • deltaCREB
  • ER-alpha
  • GATA-2
  • p53

Genomic Locations for OPN1MW Gene

Genomic Locations for OPN1MW Gene
chrX:154,182,596-154,196,861
(GRCh38/hg38)
Size:
14,266 bases
Orientation:
Plus strand
chrX:153,448,085-153,462,352
(GRCh37/hg19)
Size:
14,268 bases
Orientation:
Plus strand

Genomic View for OPN1MW Gene

Genes around OPN1MW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OPN1MW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OPN1MW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPN1MW Gene

Proteins for OPN1MW Gene

  • Protein details for OPN1MW Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for OPN1MW Gene

    Size:
    364 amino acids
    Molecular mass:
    40584 Da
    Quaternary structure:
    • Monomer. Homodimer. Homotetramer.

    Three dimensional structures from OCA and Proteopedia for OPN1MW Gene

neXtProt entry for OPN1MW Gene

Post-translational modifications for OPN1MW Gene

  • N-glycosylated (PubMed:30948514). O-glycosylated (PubMed:30948514).
  • 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 OPN1MW Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OPN1MW Gene

Domains & Families for OPN1MW Gene

Gene Families for OPN1MW Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for OPN1MW Gene

InterPro:
Blocks:
  • Red/green-sensitive opsin signature
  • Opsin
ProtoNet:

Suggested Antigen Peptide Sequences for OPN1MW Gene

GenScript: Design optimal peptide antigens:
  • Opsin 1 (Cone pigments), medium-wave-sensitive (B2RU31_HUMAN)
  • Opsin 1 (Cone pigments), medium-wave-sensitive (B7ZLG5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04001

UniProtKB/Swiss-Prot:

OPSG_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 OPN1MW: view

Function for OPN1MW Gene

Molecular function for OPN1MW Gene

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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=530 nm {ECO:0000305|PubMed:2937147};

Gene Ontology (GO) - Molecular Function for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0008020 G protein-coupled photoreceptor activity IBA 21873635
GO:0009881 photoreceptor activity TAS,IMP 8185948
GO:0042802 identical protein binding IDA 28402104
genes like me logo Genes that share ontologies with OPN1MW: view
genes like me logo Genes that share phenotypes with OPN1MW: view

Human Phenotype Ontology for OPN1MW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for OPN1MW Gene

miRTarBase miRNAs that target OPN1MW

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPN1MW

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for OPN1MW Gene

Localization for OPN1MW Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPN1MW Gene

Cell membrane. Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA 21873635
GO:0005886 plasma membrane IEA,IDA 20579627
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OPN1MW: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for OPN1MW Gene

Pathways & Interactions for OPN1MW Gene

genes like me logo Genes that share pathways with OPN1MW: view

Interacting Proteins for OPN1MW Gene

Gene Ontology (GO) - Biological Process for OPN1MW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA,TAS --
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA,IBA 21873635
genes like me logo Genes that share ontologies with OPN1MW: view

No data available for SIGNOR curated interactions for OPN1MW Gene

Drugs & Compounds for OPN1MW Gene

No Compound Related Data Available

Transcripts for OPN1MW Gene

mRNA/cDNA for OPN1MW Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OPN1MW

Alternative Splicing Database (ASD) splice patterns (SP) for OPN1MW Gene

No ASD Table

Relevant External Links for OPN1MW Gene

GeneLoc Exon Structure for
OPN1MW

Expression for OPN1MW Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OPN1MW Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OPN1MW

SOURCE GeneReport for Unigene cluster for OPN1MW Gene:

Hs.247787

mRNA Expression by UniProt/SwissProt for OPN1MW Gene:

P04001-OPSG_HUMAN
Tissue specificity: The three color pigments are found in the cone photoreceptor cells.

Phenotype-based relationships between genes and organs from Gene ORGANizer for OPN1MW Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with OPN1MW: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for OPN1MW Gene

Orthologs for OPN1MW Gene

Evolution for OPN1MW Gene

ENSEMBL:
Gene Tree for OPN1MW (if available)
TreeFam:
Gene Tree for OPN1MW (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OPN1MW: view image

No data available for Orthologs for OPN1MW Gene

Paralogs for OPN1MW Gene

Paralogs for OPN1MW Gene

(7) SIMAP similar genes for OPN1MW Gene using alignment to 3 proteins:

  • OPSG_HUMAN
  • B2RU31_HUMAN
  • B7ZLG5_HUMAN
genes like me logo Genes that share paralogs with OPN1MW: view

Variants for OPN1MW Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OPN1MW Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs104894914 Pathogenic: Cone monochromatism; Deuteranopia. Blue cone monochromacy (BCM) [MIM:303700]. Colorblindness, partial, deutan series (CBD) [MIM:303800] 154,191,716(+) T/Cp.Cys203Arg MISSENSE_VARIANT
rs104894915 Pathogenic: Deuteranopia. Colorblindness, partial, deutan series (CBD) [MIM:303800] 154,187,939(+) C/Ap.Asn94Lys MISSENSE_VARIANT
rs104894916 Pathogenic: Deuteranopia. Colorblindness, partial, deutan series (CBD) [MIM:303800] 154,195,934(+) G/Ap.Arg330Gln MISSENSE_VARIANT
rs267606927 Pathogenic: Cone dystrophy 5, X-linked. Cone dystrophy 5 (COD5) [MIM:303700] 154,190,173(+) T/Cp.Trp177Arg MISSENSE_VARIANT
rs724159983 Pathogenic: Deuteranopia 154,182,566(+) A/C

Additional dbSNP identifiers (rs#s) for OPN1MW Gene

Structural Variations from Database of Genomic Variants (DGV) for OPN1MW Gene

Variant ID Type Subtype PubMed ID
esv27518 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
esv3384147 CNV duplication 20981092
esv3392584 CNV duplication 20981092
nsv1075344 CNV deletion 25765185
nsv1132791 CNV duplication 24896259
nsv515186 CNV gain 21397061
nsv519042 CNV gain 19592680
nsv7161 CNV deletion 18451855

Variation tolerance for OPN1MW Gene

Gene Damage Index Score: 0.21; 4.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OPN1MW Gene

Human Gene Mutation Database (HGMD)
OPN1MW
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OPN1MW

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPN1MW Gene

Disorders for OPN1MW Gene

MalaCards: The human disease database

(8) MalaCards diseases for OPN1MW Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, and GeneCards

- elite association - COSMIC cancer census association via 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]: An 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.

Additional Disease Information for OPN1MW

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with OPN1MW: view

No data available for Genatlas for OPN1MW Gene

Publications for OPN1MW Gene

  1. Defective colour vision associated with a missense mutation in the human green visual pigment gene. (PMID: 1302020) Winderickx J … Deeb SS (Nature genetics 1992) 3 4 41
  2. Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates. (PMID: 30948514) Salom D … Palczewski K (The Journal of biological chemistry 2019) 3 4
  3. Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of Monostable Visual G Protein-Coupled Receptors. (PMID: 28402104) Hofmann L … Palczewski K (Biochemistry 2017) 3 4
  4. X-linked cone dystrophy caused by mutation of the red and green cone opsins. (PMID: 20579627) Gardner JC … Hardcastle AJ (American journal of human genetics 2010) 3 4
  5. Fulfilling the promise of personalized medicine? Systematic review and field synopsis of pharmacogenetic studies. (PMID: 19956635) Holmes MV … Casas JP (PloS one 2009) 3 41

Products for OPN1MW Gene

Sources for OPN1MW Gene