{ "url": "https://dantelabs.com/ko/genes/ovol2", "gene": { "slug": "ovol2", "symbol": "OVOL2", "name": "ovo like zinc finger 2", "hgnc": "HGNC:15804", "summary": null, "location": "20p11.23", "locusType": "gene with protein product", "aliases": [ "bA504H3.3", "HOVO2", "CHED" ], "previousSymbols": [ "ZNF339", "CHED1" ], "ensemblId": "ENSG00000125850", "entrezId": 58495, "omim": [ "616441" ], "uniprot": [ "Q9BRP0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 18024163, "end": 18057916, "strand": "-", "ensemblTranscript": "ENST00000278780.7", "refseqTranscript": "NM_021220.4", "ensemblProtein": "ENSP00000278780.5", "refseqProtein": "NP_067043.2", "exons": [ { "start": 18024163, "end": 18024952 }, { "start": 18041534, "end": 18041723 }, { "start": 18056657, "end": 18056877 }, { "start": 18057535, "end": 18057916 } ], "cds": { "start": 18024636, "end": 18057634 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 17937623, "end": 18039832, "strand": "-" }, "neighbourhood": { "release": "116", "start": 17541040, "end": 18541039, "genes": [ { "symbol": "BFSP1", "ensemblId": "ENSG00000125864", "biotype": "protein_coding", "start": 17493905, "end": 17569220, "strand": "-", "slug": "bfsp1" }, { "symbol": "DSTN", "ensemblId": "ENSG00000125868", "biotype": "protein_coding", "start": 17569152, "end": 17609919, "strand": "+", "slug": "dstn" }, { "symbol": "RRBP1", "ensemblId": "ENSG00000125844", "biotype": "protein_coding", "start": 17613678, "end": 17682295, "strand": "-", "slug": "rrbp1" }, { "symbol": "BANF2", "ensemblId": "ENSG00000125888", "biotype": "protein_coding", "start": 17693672, "end": 17735873, "strand": "+", "slug": "banf2" }, { "symbol": "SNX5", "ensemblId": "ENSG00000089006", "biotype": "protein_coding", "start": 17941597, "end": 17969022, "strand": "-", "slug": "snx5" }, { "symbol": "MGME1", "ensemblId": "ENSG00000125871", "biotype": "protein_coding", "start": 17968093, "end": 17991136, "strand": "+", "slug": "mgme1" }, { "symbol": "KAT14", "ensemblId": "ENSG00000149474", "biotype": "protein_coding", "start": 18137228, "end": 18188844, "strand": "+", "slug": "kat14" }, { "symbol": "PET117", "ensemblId": "ENSG00000232838", "biotype": "protein_coding", "start": 18137832, "end": 18143290, "strand": "+", "slug": "pet117" }, { "symbol": "ZNF133", "ensemblId": "ENSG00000125846", "biotype": "protein_coding", "start": 18288265, "end": 18316996, "strand": "+", "slug": "znf133" }, { "symbol": "DZANK1", "ensemblId": "ENSG00000089091", "biotype": "protein_coding", "start": 18383361, "end": 18467332, "strand": "-", "slug": "dzank1" }, { "symbol": "POLR3F", "ensemblId": "ENSG00000132664", "biotype": "protein_coding", "start": 18466878, "end": 18484648, "strand": "+", "slug": "polr3f" }, { "symbol": "RBBP9", "ensemblId": "ENSG00000089050", "biotype": "protein_coding", "start": 18486540, "end": 18497260, "strand": "-", "slug": "rbbp9" }, { "symbol": "SEC23B", "ensemblId": "ENSG00000101310", "biotype": "protein_coding", "start": 18507520, "end": 18561422, "strand": "+", "slug": "sec23b" } ], "truncated": false }, "reports": [ { "slug": "hereditary-corneal-dystrophies", "name": "유전성 각막 이상증", "diseases": [ { "mondoId": "MONDO:0018102", "name": "각막 이상증", "genes": 19, "inheritance": null, "description": "각막의 한 개 이상의 층에 영향을 미치는 유전성 질환군으로, Fuchs 내피 이상증(대개 TCF4 반복서열 확장과 관련됨), TGFBI 관련 과립형 및 격자형 이상증, 그리고 SLC4A11, COL8A2, ZEB1, CHST6 등의 유전자에 의해 발생하는 드문 유형이 포함됩니다.", "management": "TGFBI 변이 보유자는 일반적으로 레이저 굴절교정수술(LASIK 또는 PRK)을 피하는 것이 권장되는데, 이 수술은 침착물을 악화시킬 수 있기 때문입니다. 질환이 진행된 경우에는 각막이식으로 시력을 회복할 수 있습니다.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/hereditary-corneal-dystrophies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-corneal-endothelium-morphology", "name": "Abnormal corneal endothelium morphology", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-corneal-endothelium-morphology" }, { "slug": "abnormal-descemet-membrane-morphology", "name": "Abnormal Descemet membrane morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology" }, { "slug": "lacrimation-abnormality", "name": "Abnormality of tear production", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/lacrimation-abnormality" }, { "slug": "anterior-synechiae-of-the-anterior-chamber", "name": "Anterior synechiae of the anterior chamber", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-synechiae-of-the-anterior-chamber" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "band-keratopathy", "name": "Band keratopathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/band-keratopathy" }, { "slug": "blurred-vision", "name": "Blurred vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/blurred-vision" }, { "slug": "chorioretinal-atrophy", "name": "Chorioretinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/chorioretinal-atrophy" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "corneal-stromal-edema", "name": "Corneal stromal edema", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-stromal-edema" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "ectopia-pupillae", "name": "Displaced pupil", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopia-pupillae" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "ocular-pain", "name": "Eye pain", "systems": [ "abnormality-of-the-eye", "constitutional-symptom" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ocular-pain" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "ocular-hypertension", "name": "High eye pressure", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ocular-hypertension" }, { "slug": "increased-corneal-curvature", "name": "Increased corneal curvature", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-corneal-curvature" }, { "slug": "epiphora", "name": "Increased tears", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/epiphora" }, { "slug": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "iris-atrophy", "name": "Iris degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-atrophy" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "polymorphous-posterior-corneal-dystrophy", "name": "Polymorphous posterior corneal dystrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/polymorphous-posterior-corneal-dystrophy" }, { "slug": "reduced-number-of-corneal-endothelial-cells", "name": "Reduced number of corneal endothelial cells", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-number-of-corneal-endothelial-cells" }, { "slug": "thinning-of-descemet-membrane", "name": "Thinning of Descemet membrane", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thinning-of-descemet-membrane" }, { "slug": "uveal-ectropion", "name": "Uveal ectropion", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uveal-ectropion" }, { "slug": "very-low-visual-acuity", "name": "Very low visual acuity", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/very-low-visual-acuity" } ], "related": [ { "slug": "chst6", "symbol": "CHST6", "name": "carbohydrate sulfotransferase 6", "shared": 1, "url": "https://dantelabs.com/ko/genes/chst6" }, { "slug": "col17a1", "symbol": "COL17A1", "name": "collagen type XVII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/ko/genes/col17a1" }, { "slug": "col8a2", "symbol": "COL8A2", "name": "collagen type VIII alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/ko/genes/col8a2" }, { "slug": "dcn", "symbol": "DCN", "name": "decorin", "shared": 1, "url": "https://dantelabs.com/ko/genes/dcn" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/grhl2" }, { "slug": "gsn", "symbol": "GSN", "name": "gelsolin", "shared": 1, "url": "https://dantelabs.com/ko/genes/gsn" }, { "slug": "krt12", "symbol": "KRT12", "name": "keratin 12", "shared": 1, "url": "https://dantelabs.com/ko/genes/krt12" }, { "slug": "krt3", "symbol": "KRT3", "name": "keratin 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/krt3" }, { "slug": "mcoln1", "symbol": "MCOLN1", "name": "mucolipin TRP cation channel 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/mcoln1" }, { "slug": "nlrp1", "symbol": "NLRP1", "name": "NLR family pyrin domain containing 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/nlrp1" }, { "slug": "pikfyve", "symbol": "PIKFYVE", "name": "phosphoinositide kinase, FYVE-type zinc finger containing", "shared": 1, "url": "https://dantelabs.com/ko/genes/pikfyve" }, { "slug": "prdx3", "symbol": "PRDX3", "name": "peroxiredoxin 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/prdx3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }