Gene
OPN1LW
opsin 1, long wave sensitive
- HGNC 9936↗(opens in a new tab)
- Ensembl gene ENSG00000102076↗(opens in a new tab)
- NCBI Gene 5956↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq28
- Coordinates
- Chromosome X: 154,144,243–154,159,032 (GRCh38)
- Exons
- 6 exons across 14.8 kb
- Protein
- 364 amino acids
- Inheritance
- X-linked recessive
- Also known as
- COD5
- Previous symbols
- CBBM, RCP, CBP
- MANE Select transcript
- ENST00000369951.9NM_020061.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Achromatopsia
Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
- 1 GenCC submitter rates it definitive or strong
Colour Vision Deficiency
- Red Colour Vision Deficiency (Protan)X-linked recessive
A form of red-green colour vision deficiency affecting the red-sensitive cone pigment (OPN1LW).
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it can help with education and career choices.
- Blue Cone MonochromacyX-linked recessive
A rare X-linked condition in which both red and green cones do not work, causing reduced vision, nystagmus and very poor colour vision from infancy.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Low-vision support and tinted lenses can help, and female relatives can be offered carrier testing.
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How OPN1LW is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.2 kb of the gene's 14.8 kb; 1,095 of those bases code for the protein.
How a genome test reads OPN1LW
4
positions in OPN1LW where ClinVar classes a change as pathogenic or likely pathogenic
4 of them (100%) fall in regions short reads find hard.
- Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (4 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 14.8 kb of OPN1LW, introns included, not only the 1.2 kb of exons.
Genes linked to the same conditions
- OPN1MWopsin 1, medium wave sensitiveShares 2 conditions
- ATF6activating transcription factor 6Shares 1 condition
- CNGA3cyclic nucleotide gated channel subunit alpha 3Shares 1 condition
- CNGB3cyclic nucleotide gated channel subunit beta 3Shares 1 condition
- GNAT2G protein subunit alpha transducin 2Shares 1 condition
- PDE6Hphosphodiesterase 6HShares 1 condition
Traits linked to OPN1LW
The Human Phenotype Ontology lists these as features of the rare conditions OPN1LW can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal retinal pigmentation
- Blue cone monochromacy
- Difficulties with night vision
- Extreme sensitivity of the eyes to light
- Abnormal color vision
- Abnormal full-field electroretinogram
- Blind spot located at fixation point
- Close sighted
Show 17 more traits
- Color blindness
- Eccentric visual fixation
- Involuntary, rapid, rhythmic eye movements
- Optic disc pallor
- Progressive loss of vision
- Reduced OCT-measured foveal thickness
- Retinal atrophy
- Spicular pigmentation of the retina
- Abnormal electroretinogram
- Abnormal macular pigmentation
- Corneal dystrophy
- Farsightedness
- Metamorphopsia
- Visual impairment
- Decreased clarity of vision
- Pendular nystagmus
- Red-weak
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). OPN1LW gene: opsin 1, long wave sensitive. Retrieved 17 October 2026, from https://dantelabs.com/genes/opn1lw
Dante Labs. OPN1LW gene: opsin 1, long wave sensitive [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/opn1lw
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