{ "url": "https://dantelabs.com/tr/genes/grk1", "gene": { "slug": "grk1", "symbol": "GRK1", "name": "G protein-coupled receptor kinase 1", "hgnc": "HGNC:10013", "summary": null, "location": "13q34", "locusType": "gene with protein product", "aliases": [ "GPRK1", "RK" ], "previousSymbols": [ "RHOK" ], "ensemblId": "ENSG00000185974", "entrezId": 6011, "omim": [ "180381" ], "uniprot": [ "Q15835" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "13", "start": 113667219, "end": 113737736, "strand": "+", "ensemblTranscript": "ENST00000335678.7", "refseqTranscript": "NM_002929.3", "ensemblProtein": "ENSP00000334876.5", "refseqProtein": "NP_002920.1", "exons": [ { "start": 113667219, "end": 113668085 }, { "start": 113669687, "end": 113669814 }, { "start": 113671499, "end": 113671656 }, { "start": 113723074, "end": 113723157 }, { "start": 113731219, "end": 113731343 }, { "start": 113732884, "end": 113733085 }, { "start": 113735068, "end": 113737736 } ], "cds": { "start": 113667387, "end": 113735363 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "13", "start": 114321470, "end": 114440708, "strand": "+" }, "neighbourhood": { "release": "116", "start": 113202478, "end": 114202477, "genes": [ { "symbol": "PCID2", "ensemblId": "ENSG00000126226", "biotype": "protein_coding", "start": 113177117, "end": 113209458, "strand": "-", "slug": "pcid2" }, { "symbol": "CUL4A", "ensemblId": "ENSG00000139842", "biotype": "protein_coding", "start": 113208193, "end": 113267108, "strand": "+", "slug": "cul4a" }, { "symbol": "LAMP1", "ensemblId": "ENSG00000185896", "biotype": "protein_coding", "start": 113297088, "end": 113324413, "strand": "+", "slug": "lamp1" }, { "symbol": "GRTP1", "ensemblId": "ENSG00000139835", "biotype": "protein_coding", "start": 113320007, "end": 113364165, "strand": "-", "slug": "grtp1" }, { "symbol": "ADPRHL1", "ensemblId": "ENSG00000153531", "biotype": "protein_coding", "start": 113399611, "end": 113453914, "strand": "-", "slug": "adprhl1" }, { "symbol": "DCUN1D2", "ensemblId": "ENSG00000150401", "biotype": "protein_coding", "start": 113455289, "end": 113490984, "strand": "-", "slug": "dcun1d2" }, { "symbol": "SLC9D1", "ensemblId": "ENSG00000150403", "biotype": "protein_coding", "start": 113490719, "end": 113554590, "strand": "+", "slug": "slc9d1" }, { "symbol": "TFDP1", "ensemblId": "ENSG00000198176", "biotype": "protein_coding", "start": 113584525, "end": 113641509, "strand": "+", "slug": "tfdp1" }, { "symbol": "ATP4B", "ensemblId": "ENSG00000186009", "biotype": "protein_coding", "start": 113648804, "end": 113658198, "strand": "-", "slug": "atp4b" }, { "symbol": "TMEM255B", "ensemblId": "ENSG00000184497", "biotype": "protein_coding", "start": 113759194, "end": 113816995, "strand": "+", "slug": "tmem255b" }, { "symbol": "GAS6", "ensemblId": "ENSG00000183087", "biotype": "protein_coding", "start": 113820468, "end": 113864123, "strand": "-", "slug": "gas6" }, { "symbol": "C13orf46", "ensemblId": "ENSG00000283199", "biotype": "protein_coding", "start": 113953705, "end": 113974076, "strand": "-", "slug": "c13orf46" }, { "symbol": "RASA3", "ensemblId": "ENSG00000185989", "biotype": "protein_coding", "start": 113977783, "end": 114132775, "strand": "-", "slug": "rasa3" }, { "symbol": "CFAP97D2", "ensemblId": "ENSG00000283361", "biotype": "protein_coding", "start": 114154691, "end": 114223085, "strand": "+", "slug": "cfap97d2" } ], "truncated": false }, "reports": [ { "slug": "congenital-stationary-night-blindness", "name": "Doğuştan Durağan Gece Körlüğü", "diseases": [ { "mondoId": "MONDO:0016293", "name": "Doğuştan Durağan Gece Körlüğü", "genes": 16, "inheritance": null, "description": "NYX, CACNA1F, TRPM1, GRM6, GPR179 ve SAG gibi genlerdeki değişikliklerden kaynaklanan, çoğunlukla ilerleyici olmayan retina hastalıkları grubudur; Oguchi hastalığı da bunlara dahildir. Genellikle nistagmus veya miyopi ile birlikte görülür.", "management": "Genetik bir tanı, semptomları açıklar, bu durumu ilerleyici retina hastalıklarından ayırt etmeye yardımcı olur ve aile danışmanlığına yön verir.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/congenital-stationary-night-blindness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-refraction", "name": "Abnormality of refraction", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-refraction" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "dyschromatopsia", "name": "Color blindness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/dyschromatopsia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "erg-reduced-dark-adapted-b-wave-amplitude", "name": "ERG: Reduced dark-adapted b-wave amplitude", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erg-reduced-dark-adapted-b-wave-amplitude" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "macular-degeneration", "name": "Macular degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macular-degeneration" }, { "slug": "mizuo-phenomenon", "name": "Mizuo phenomenon", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mizuo-phenomenon" }, { "slug": "early-onset-non-progressive-night-blindness", "name": "Night blindness since birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness" }, { "slug": "visual-field-defect", "name": "Partial loss of field of vision", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-field-defect" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "cabp4", "symbol": "CABP4", "name": "calcium binding protein 4", "shared": 1, "url": "https://dantelabs.com/tr/genes/cabp4" }, { "slug": "cacna1f", "symbol": "CACNA1F", "name": "calcium voltage-gated channel subunit alpha1 F", "shared": 1, "url": "https://dantelabs.com/tr/genes/cacna1f" }, { "slug": "gnat1", "symbol": "GNAT1", "name": "G protein subunit alpha transducin 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/gnat1" }, { "slug": "gnb3", "symbol": "GNB3", "name": "G protein subunit beta 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/gnb3" }, { "slug": "gpr179", "symbol": "GPR179", "name": "G protein-coupled receptor 179", "shared": 1, "url": "https://dantelabs.com/tr/genes/gpr179" }, { "slug": "grm6", "symbol": "GRM6", "name": "glutamate metabotropic receptor 6", "shared": 1, "url": "https://dantelabs.com/tr/genes/grm6" }, { "slug": "gucy2d", "symbol": "GUCY2D", "name": "guanylate cyclase 2D, retinal", "shared": 1, "url": "https://dantelabs.com/tr/genes/gucy2d" }, { "slug": "lrit3", "symbol": "LRIT3", "name": "leucine rich repeat, Ig-like and transmembrane domains 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/lrit3" }, { "slug": "nyx", "symbol": "NYX", "name": "nyctalopin", "shared": 1, "url": "https://dantelabs.com/tr/genes/nyx" }, { "slug": "pde6b", "symbol": "PDE6B", "name": "phosphodiesterase 6B", "shared": 1, "url": "https://dantelabs.com/tr/genes/pde6b" }, { "slug": "rho", "symbol": "RHO", "name": "rhodopsin", "shared": 1, "url": "https://dantelabs.com/tr/genes/rho" }, { "slug": "rims2", "symbol": "RIMS2", "name": "regulating synaptic membrane exocytosis 2", "shared": 1, "url": "https://dantelabs.com/tr/genes/rims2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }