{ "url": "https://dantelabs.com/sv/genes/epha2", "gene": { "slug": "epha2", "symbol": "EPHA2", "name": "EPH receptor A2", "hgnc": "HGNC:3386", "summary": null, "location": "1p36.13", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "ECK" ], "ensemblId": "ENSG00000142627", "entrezId": 1969, "omim": [ "176946" ], "uniprot": [ "P29317" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 16124337, "end": 16156069, "strand": "-", "ensemblTranscript": "ENST00000358432.8", "refseqTranscript": "NM_004431.5", "ensemblProtein": "ENSP00000351209.5", "refseqProtein": "NP_004422.2", "exons": [ { "start": 16124337, "end": 16125320 }, { "start": 16129434, "end": 16129589 }, { "start": 16130226, "end": 16130419 }, { "start": 16131721, "end": 16131870 }, { "start": 16132064, "end": 16132273 }, { "start": 16132378, "end": 16132439 }, { "start": 16133180, "end": 16133368 }, { "start": 16133481, "end": 16133606 }, { "start": 16133860, "end": 16133915 }, 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"protein_coding", "start": 16004229, "end": 16009382, "strand": "+", "slug": "srarp" }, { "symbol": "HSPB7", "ensemblId": "ENSG00000173641", "biotype": "protein_coding", "start": 16014018, "end": 16020597, "strand": "-", "slug": "hspb7" }, { "symbol": "CLCNKA", "ensemblId": "ENSG00000186510", "biotype": "protein_coding", "start": 16018146, "end": 16034109, "strand": "+", "slug": "clcnka" }, { "symbol": "CLCNKB", "ensemblId": "ENSG00000184908", "biotype": "protein_coding", "start": 16040252, "end": 16057367, "strand": "+", "slug": "clcnkb" }, { "symbol": "FAM131C", "ensemblId": "ENSG00000185519", "biotype": "protein_coding", "start": 16057769, "end": 16073664, "strand": "-", "slug": "fam131c" }, { "symbol": "ARHGEF19", "ensemblId": "ENSG00000142632", "biotype": "protein_coding", "start": 16197854, "end": 16212893, "strand": "-", "slug": "arhgef19" }, { "symbol": "CPLANE2", "ensemblId": "ENSG00000132881", "biotype": "protein_coding", "start": 16231692, "end": 16237214, "strand": "-", "slug": "cplane2" }, { "symbol": "FBXO42", "ensemblId": "ENSG00000037637", "biotype": "protein_coding", "start": 16246840, "end": 16352494, "strand": "-", "slug": "fbxo42" }, { "symbol": "SZRD1", "ensemblId": "ENSG00000055070", "biotype": "protein_coding", "start": 16352575, "end": 16398147, "strand": "+", "slug": "szrd1" }, { "symbol": "SPATA21", "ensemblId": "ENSG00000187144", "biotype": "protein_coding", "start": 16387117, "end": 16437424, "strand": "-", "slug": "spata21" }, { "symbol": "NECAP2", "ensemblId": "ENSG00000157191", "biotype": "protein_coding", "start": 16440664, "end": 16460092, "strand": "+", "slug": "necap2" }, { "symbol": "NBPF1", "ensemblId": "ENSG00000219481", "biotype": "protein_coding", "start": 16562319, "end": 16613562, "strand": "-", "slug": "nbpf1" } ], "truncated": false }, "reports": [ { "slug": "hereditary-congenital-and-juvenile-cataract", "name": "Ärftlig medfödd och juvenil katarakt", "diseases": [ { "mondoId": "MONDO:0011060", "name": "Tidigt debuterande icke-syndromisk katarakt", "genes": 22, "inheritance": null, "description": "Gråstarr som uppkommer vid födseln eller tidigt i livet utan andra symtom, orsakad av förändringar i linsgener såsom kristalliner (CRYAA, CRYBB2, CRYGD och andra), GJA3, GJA8 och MIP.", "management": "Tidig upptäckt och operation hos barn hjälper till att förebygga permanent synnedsättning orsakad av amblyopi, och familjemedlemmar kan erbjudas ögonkontroller.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/hereditary-congenital-and-juvenile-cataract" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "chorioretinal-scalloped-atrophy", "name": "Chorioretinal scalloped atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/chorioretinal-scalloped-atrophy" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/myopia" }, { "slug": "developmental-cataract", "name": "Clouding of the lens of the eye at birth", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/developmental-cataract" }, { "slug": "posterior-polar-cataract", "name": "Posterior polar cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/posterior-polar-cataract" } ], "related": [ { "slug": "bfsp1", "symbol": "BFSP1", "name": "beaded filament structural protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/bfsp1" }, { "slug": "chmp4b", "symbol": "CHMP4B", "name": "charged multivesicular body protein 4B", "shared": 1, "url": "https://dantelabs.com/sv/genes/chmp4b" }, { "slug": "cryab", "symbol": "CRYAB", "name": "crystallin alpha B", "shared": 1, "url": "https://dantelabs.com/sv/genes/cryab" }, { "slug": "cryba1", "symbol": "CRYBA1", "name": "crystallin beta A1", "shared": 1, "url": "https://dantelabs.com/sv/genes/cryba1" }, { "slug": "cryba2", "symbol": "CRYBA2", "name": "crystallin beta A2", "shared": 1, "url": "https://dantelabs.com/sv/genes/cryba2" }, { "slug": "cryba4", "symbol": "CRYBA4", "name": "crystallin beta A4", "shared": 1, "url": "https://dantelabs.com/sv/genes/cryba4" }, { "slug": "crybb1", "symbol": "CRYBB1", "name": "crystallin beta B1", "shared": 1, "url": "https://dantelabs.com/sv/genes/crybb1" }, { "slug": "crybb3", "symbol": "CRYBB3", "name": "crystallin beta B3", "shared": 1, "url": "https://dantelabs.com/sv/genes/crybb3" }, { "slug": "crygs", "symbol": "CRYGS", "name": "crystallin gamma S", "shared": 1, "url": "https://dantelabs.com/sv/genes/crygs" }, { "slug": "gcnt2", "symbol": "GCNT2", "name": "glucosaminyl (N-acetyl) transferase 2 (I blood group)", "shared": 1, "url": "https://dantelabs.com/sv/genes/gcnt2" }, { "slug": "gja3", "symbol": "GJA3", "name": "gap junction protein alpha 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/gja3" }, { "slug": "hsf4", "symbol": "HSF4", "name": "heat shock transcription factor 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/hsf4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }