OPN1MW opsin 1, medium wave sensitive
Gene ID: 2652, updated on 2-Nov-2024Gene type: protein coding
Also known as: CBD; GCP; GOP; CBBM; COD5; OPN1MW1
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- Go to complete Gene record for OPN1MW
- Go to Variation Viewer for OPN1MW variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Cone monochromatism | See labs |
Deuteranomaly | See labs |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (154182596..154196861)
- Total number of exons:
- 6
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for OPN1MW variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- OPN1MW database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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