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OPN1MW2 opsin 1, medium wave sensitive 2 [ Homo sapiens (human) ]

Gene ID: 728458, updated on 11-Apr-2024

Summary

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Official Symbol
OPN1MW2provided by HGNC
Official Full Name
opsin 1, medium wave sensitive 2provided by HGNC
Primary source
HGNC:HGNC:26952
See related
Ensembl:ENSG00000166160 AllianceGenome:HGNC:26952
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GOP
Summary
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]
Expression
Low expression observed in reference dataset See more
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Genomic context

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See OPN1MW2 in Genome Data Viewer
Location:
Xq28
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154219756..154233286)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152493394..152506924)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153485225..153498755)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TEX28 pseudogene 2 Neighboring gene opsin 1, medium wave sensitive Neighboring gene TEX28 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153490111-153490612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153490613-153491112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153495190-153495690 Neighboring gene TEX28 pseudogene 3 Neighboring gene opsin 1, medium wave sensitive 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Defective colour vision associated with a missense mutation in the human green visual pigment gene. Winderickx J, et al. Nat Genet, 1992 Jul. PMID 1302020
  2. 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. Hofmann L, et al. Biochemistry, 2017 May 2. PMID 28402104, Free PMC Article
  3. Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. Hayashi T, et al. Nat Genet, 1999 May. PMID 10319869
  4. X-linked cone dystrophy caused by mutation of the red and green cone opsins. Gardner JC, et al. Am J Hum Genet, 2010 Jul 9. PMID 20579627, Free PMC Article
  5. Expressions of rod and cone photoreceptor-like proteins in human epidermis. Tsutsumi M, et al. Exp Dermatol, 2009 Jun. PMID 19493002

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled photoreceptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables photoreceptor activity IMP
Inferred from Mutant Phenotype
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 visible light IEA
Inferred from Electronic Annotation
more info
  
involved_in phototransduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in photoreceptor disc membrane TAS
Traceable Author Statement
more info
  
is_active_in photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
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 

General protein information

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Preferred Names
medium-wave-sensitive opsin 1
Names
green cone photoreceptor pigment
green-sensitive opsin
opsin 1 (cone pigments), medium-wave-sensitive 2
opsin 1 cone pigments medium-wave-sensitive 2

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)

  1. NM_001048181.3 → NP_001041646.1  medium-wave-sensitive opsin 1

    See identical proteins and their annotated locations for NP_001041646.1

    Status: REVIEWED

    Source sequence(s)
    AC244097
    Consensus CDS
    CCDS35447.1
    UniProtKB/Swiss-Prot
    P04001, P0DN77, P0DN78
    UniProtKB/TrEMBL
    B7ZLG5
    Related
    ENSP00000358945.4, ENST00000369929.8
    Conserved Domains (2) summary
    pfam00001
    Location:71 → 322
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:61 → 178
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154219756..154233286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152493394..152506924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P04001.1 GenPept UniProtKB/Swiss-Prot:P04001

Gene LinkOut

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