{ "url": "https://dantelabs.com/lt/genes/opn1mw", "gene": { "slug": "opn1mw", "symbol": "OPN1MW", "name": "opsin 1, medium wave sensitive", "hgnc": "HGNC:4206", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [ "OPN1MW1", "COD5" ], "previousSymbols": [ "GCP", "CBBM", "CBD" ], "ensemblId": "ENSG00000268221", "entrezId": 2652, "omim": [ "300821" ], "uniprot": [ "P04001" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 154182596, "end": 154196861, "strand": "+", "ensemblTranscript": "ENST00000595290.6", "refseqTranscript": "NM_000513.2", "ensemblProtein": "ENSP00000472316.1", "refseqProtein": "NP_000504.1", "exons": [ { "start": 154182596, "end": 154182789 }, { "start": 154187770, "end": 154188066 }, { "start": 154190054, "end": 154190222 }, { "start": 154191688, "end": 154191853 }, { "start": 154193408, "end": 154193647 }, { "start": 154195930, "end": 154196861 } ], "cds": { "start": 154182678, "end": 154196040 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 153448107, "end": 153461633, "strand": "+" }, "neighbourhood": { "release": "116", "start": 153689729, "end": 154689728, "genes": [ { "symbol": "SLC6A8", "ensemblId": "ENSG00000130821", "biotype": "protein_coding", "start": 153687914, "end": 153696591, "strand": "+", "slug": "slc6a8" }, { "symbol": "BCAP31", "ensemblId": "ENSG00000185825", "biotype": "protein_coding", "start": 153698006, "end": 153725957, "strand": "-", "slug": "bcap31" }, { "symbol": "ABCD1", "ensemblId": "ENSG00000101986", "biotype": "protein_coding", "start": 153724495, "end": 153744755, "strand": "+", "slug": "abcd1" }, { "symbol": "PLXNB3", "ensemblId": "ENSG00000198753", "biotype": "protein_coding", "start": 153764179, "end": 153779346, "strand": "+", "slug": "plxnb3" }, { "symbol": "SRPK3", "ensemblId": "ENSG00000184343", "biotype": "protein_coding", "start": 153781001, "end": 153785768, "strand": "+", "slug": "srpk3" }, { "symbol": "IDH3G", "ensemblId": "ENSG00000067829", "biotype": "protein_coding", "start": 153785735, "end": 153794535, "strand": "-", "slug": "idh3g" }, { "symbol": "SSR4", "ensemblId": "ENSG00000180879", "biotype": "protein_coding", "start": 153793516, "end": 153798510, "strand": "+", "slug": "ssr4" }, { "symbol": "PDZD4", "ensemblId": "ENSG00000067840", "biotype": "protein_coding", "start": 153802161, "end": 153830935, "strand": "-", "slug": "pdzd4" }, { "symbol": "L1CAM", "ensemblId": "ENSG00000198910", "biotype": "protein_coding", "start": 153861511, "end": 153886204, "strand": "-", "slug": "l1cam" }, { "symbol": "", "ensemblId": "ENSG00000284987", "biotype": "protein_coding", "start": 153872221, "end": 153909223, "strand": "-" }, { "symbol": "AVPR2", "ensemblId": "ENSG00000126895", "biotype": "protein_coding", "start": 153902531, "end": 153907169, "strand": "+", "slug": "avpr2" }, { "symbol": "ARHGAP4", "ensemblId": "ENSG00000089820", "biotype": "protein_coding", "start": 153907367, "end": 153934999, "strand": "-", "slug": "arhgap4" }, { "symbol": "NAA10", "ensemblId": "ENSG00000102030", "biotype": "protein_coding", "start": 153928799, "end": 153935083, "strand": "-", "slug": "naa10" }, { "symbol": "RENBP", "ensemblId": "ENSG00000102032", "biotype": "protein_coding", "start": 153935269, "end": 153944688, "strand": "-", "slug": "renbp" }, { "symbol": "HCFC1", "ensemblId": "ENSG00000172534", "biotype": "protein_coding", "start": 153946434, "end": 153972427, "strand": "-", "slug": "hcfc1" }, { "symbol": "TMEM187", "ensemblId": "ENSG00000177854", "biotype": "protein_coding", "start": 153972290, "end": 153983194, "strand": "+", "slug": "tmem187" }, { "symbol": "IRAK1", "ensemblId": "ENSG00000184216", "biotype": "protein_coding", "start": 154010501, "end": 154020650, "strand": "-", "slug": "irak1" }, { "symbol": "MECP2", "ensemblId": "ENSG00000169057", "biotype": "protein_coding", "start": 154021573, "end": 154137103, "strand": "-", "slug": "mecp2" }, { "symbol": "OPN1LW", "ensemblId": "ENSG00000102076", "biotype": "protein_coding", "start": 154144243, "end": 154159032, "strand": "+", "slug": "opn1lw" }, { "symbol": "OPN1MW2", "ensemblId": "ENSG00000166160", "biotype": "protein_coding", "start": 154219756, "end": 154233286, "strand": "+", "slug": "opn1mw2" }, { "symbol": "OPN1MW3", "ensemblId": "ENSG00000269433", "biotype": "protein_coding", "start": 154257582, "end": 154271090, "strand": "+", "slug": "opn1mw3" }, { "symbol": "TEX28", "ensemblId": "ENSG00000278057", "biotype": "protein_coding", "start": 154271265, "end": 154295853, "strand": "-", "slug": "tex28" }, { "symbol": "TKTL1", "ensemblId": "ENSG00000007350", "biotype": "protein_coding", "start": 154295795, "end": 154330350, "strand": "+", "slug": "tktl1" }, { "symbol": "FLNA", "ensemblId": "ENSG00000196924", "biotype": "protein_coding", "start": 154348524, "end": 154374643, "strand": "-", "slug": "flna" }, { "symbol": "EMD", "ensemblId": "ENSG00000102119", "biotype": "protein_coding", "start": 154379205, "end": 154381574, "strand": "+", "slug": "emd" }, { "symbol": "RPL10", "ensemblId": "ENSG00000147403", "biotype": "protein_coding", "start": 154389955, "end": 154409168, "strand": "+", "slug": "rpl10" }, { "symbol": "DNASE1L1", "ensemblId": "ENSG00000013563", "biotype": "protein_coding", "start": 154401236, "end": 154412119, "strand": "-", "slug": "dnase1l1" }, { "symbol": "TAFAZZIN", "ensemblId": "ENSG00000102125", "biotype": "protein_coding", "start": 154409456, "end": 154421726, "strand": "+", "slug": "tafazzin" }, { "symbol": "ATP6AP1", "ensemblId": "ENSG00000071553", "biotype": "protein_coding", "start": 154428618, "end": 154436517, "strand": "+", "slug": "atp6ap1" }, { "symbol": "GDI1", "ensemblId": "ENSG00000203879", "biotype": "protein_coding", "start": 154436600, "end": 154443467, "strand": "+", "slug": "gdi1" }, { "symbol": "FAM50A", "ensemblId": "ENSG00000071859", "biotype": "protein_coding", "start": 154444103, "end": 154450655, "strand": "+", "slug": "fam50a" }, { "symbol": "PLXNA3", "ensemblId": "ENSG00000130827", "biotype": "protein_coding", "start": 154458275, "end": 154477779, "strand": "+", "slug": "plxna3" }, { "symbol": "LAGE3", "ensemblId": "ENSG00000196976", "biotype": "protein_coding", "start": 154477598, "end": 154479291, "strand": "-", "slug": "lage3" }, { "symbol": "UBL4A", "ensemblId": "ENSG00000102178", "biotype": "protein_coding", "start": 154483717, "end": 154486661, "strand": "-", "slug": "ubl4a" }, { "symbol": "SLC10A3", "ensemblId": "ENSG00000126903", "biotype": "protein_coding", "start": 154487306, "end": 154490690, "strand": "-", "slug": "slc10a3" }, { "symbol": "FAM3A", "ensemblId": "ENSG00000071889", "biotype": "protein_coding", "start": 154505019, "end": 154516882, "strand": "-", "slug": "fam3a" }, { "symbol": "G6PD", "ensemblId": "ENSG00000160211", "biotype": "protein_coding", "start": 154517825, "end": 154547584, "strand": "-", "slug": "g6pd" }, { "symbol": "IKBKG", "ensemblId": "ENSG00000269335", "biotype": "protein_coding", "start": 154541179, "end": 154568543, "strand": "+", "slug": "ikbkg" }, { "symbol": "CTAG1A", "ensemblId": "ENSG00000268651", "biotype": "protein_coding", "start": 154585133, "end": 154586816, "strand": "+", "slug": "ctag1a" }, { "symbol": "CTAG1B", "ensemblId": "ENSG00000184033", "biotype": "protein_coding", "start": 154617609, "end": 154619282, "strand": "-", "slug": "ctag1b" }, { "symbol": "CTAG2", "ensemblId": "ENSG00000126890", "biotype": "protein_coding", "start": 154651972, "end": 154653579, "strand": "-", "slug": "ctag2" }, { "symbol": "GAB3", "ensemblId": "ENSG00000160219", "biotype": "protein_coding", "start": 154675249, "end": 154751583, "strand": "-", "slug": "gab3" } ], "truncated": false }, "reports": [ { "slug": "achromatopsia", "name": "Achromatopsija", "diseases": [ { "mondoId": "MONDO:0018852", "name": "Achromatopsija", "genes": 7, "inheritance": null, "description": "Achromatopsija (ACHM) yra reta autosominiu recesyviniu būdu paveldima tinklainės liga, pasireiškianti spalvų akliumu, nistagmu, fotofobija ir smarkiai sumažėjusiu regėjimo aštrumu dėl kūginių ląstelių funkcijos nebuvimo arba sutrikimo.", "management": null, "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/achromatopsia" }, { "slug": "colour-vision-deficiency", "name": "Dalinis spalvų matymo sutrikimas", "diseases": [ { "mondoId": "MONDO:0010564", "name": "Raudono-žalio spalvų matymo sutrikimas", "genes": 1, "inheritance": "x-linked-recessive", "description": "X chromosomoje susijęs spalvų matymo skirtumas, kurį sukelia pakitimai genuose OPN1LW ir OPN1MW, koduojančiuose į raudoną ir žalią šviesą jautrius kūgelių pigmentus.", "management": "Žinios apie tai gali padėti priimti sprendimus dėl mokslo ir karjeros, nes kai kuriems darbams reikia normalaus spalvų matymo.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0010563", "name": "Mėlynųjų kūgelių monochromazija", "genes": 2, "inheritance": "x-linked-recessive", "description": "Retas X chromosomoje susijęs sutrikimas, kai neveikia nei raudonieji, nei žalieji kūgeliai, dėl to nuo kūdikystės sumažėja regėjimas, atsiranda nistagmas ir labai prastas spalvų matymas.", "management": "Padėti gali silpnaregių pagalba ir tamsinantys akiniai; giminaitėms moterims galima pasiūlyti nešiotojos tyrimą.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/colour-vision-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-full-field-electroretinogram", "name": "Abnormal full-field electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram" }, { "slug": "abnormal-macular-pigmentation", "name": "Abnormal macular pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-macular-pigmentation" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "central-scotoma", "name": "Blind spot located at fixation point", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-scotoma" }, { "slug": "blue-cone-monochromacy", "name": "Blue cone monochromacy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/blue-cone-monochromacy" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "dyschromatopsia", "name": "Color blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyschromatopsia" }, { "slug": "corneal-dystrophy", "name": "Corneal dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-dystrophy" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "eccentric-visual-fixation", "name": "Eccentric visual fixation", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eccentric-visual-fixation" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "deuteranomaly", "name": "Green-weak", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/deuteranomaly" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "metamorphopsia", "name": "Metamorphopsia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metamorphopsia" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "pendular-nystagmus", "name": "Pendular nystagmus", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/pendular-nystagmus" }, { "slug": "progressive-visual-loss", "name": "Progressive loss of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-visual-loss" }, { "slug": "reduced-oct-measured-foveal-thickness", "name": "Reduced OCT-measured foveal thickness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-oct-measured-foveal-thickness" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "opn1lw", "symbol": "OPN1LW", "name": "opsin 1, long wave sensitive", "shared": 2, "url": "https://dantelabs.com/lt/genes/opn1lw" }, { "slug": "atf6", "symbol": "ATF6", "name": "activating transcription factor 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/atf6" }, { "slug": "cnga3", "symbol": "CNGA3", "name": "cyclic nucleotide gated channel subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/cnga3" }, { "slug": "cngb3", "symbol": "CNGB3", "name": "cyclic nucleotide gated channel subunit beta 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/cngb3" }, { "slug": "gnat2", "symbol": "GNAT2", "name": "G protein subunit alpha transducin 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/gnat2" }, { "slug": "pde6h", "symbol": "PDE6H", "name": "phosphodiesterase 6H", "shared": 1, "url": "https://dantelabs.com/lt/genes/pde6h" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }