{ "url": "https://dantelabs.com/fr/genes/nup205", "gene": { "slug": "nup205", "symbol": "NUP205", "name": "nucleoporin 205", "hgnc": "HGNC:18658", "summary": null, "location": "7q33", "locusType": "gene with protein product", "aliases": [ "KIAA0225" ], "previousSymbols": [ "C7orf14" ], "ensemblId": "ENSG00000155561", "entrezId": 23165, "omim": [ "614352" ], "uniprot": [ "Q92621" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 135557917, "end": 135648753, "strand": "+", "ensemblTranscript": "ENST00000285968.11", "refseqTranscript": "NM_015135.3", "ensemblProtein": "ENSP00000285968.6", "refseqProtein": "NP_055950.2", "exons": [ { "start": 135557917, "end": 135557972 }, { "start": 135571105, "end": 135571247 }, { "start": 135573654, "end": 135573825 }, { "start": 135576270, "end": 135576414 }, { "start": 135576969, "end": 135577128 }, { "start": 135577796, "end": 135578024 }, { "start": 135578751, "end": 135578915 }, { "start": 135584832, "end": 135585007 }, { "start": 135587575, "end": 135587691 }, { "start": 135587855, "end": 135587992 }, { "start": 135591450, "end": 135591600 }, { "start": 135592987, "end": 135593192 }, { "start": 135594547, "end": 135594729 }, { "start": 135597368, "end": 135597418 }, { "start": 135597998, "end": 135598207 }, { "start": 135600870, "end": 135600969 }, { "start": 135601370, "end": 135601507 }, { "start": 135602805, "end": 135602994 }, { "start": 135604340, "end": 135604460 }, { "start": 135606145, "end": 135606226 }, { "start": 135606751, "end": 135606915 }, { "start": 135607247, "end": 135607371 }, { "start": 135614159, "end": 135614273 }, { "start": 135615916, "end": 135616065 }, { "start": 135616655, "end": 135616726 }, { "start": 135617090, "end": 135617247 }, { "start": 135617602, "end": 135617682 }, { "start": 135618412, "end": 135618603 }, { "start": 135619423, "end": 135619690 }, { "start": 135619790, "end": 135619888 }, { "start": 135622777, "end": 135622925 }, { "start": 135625164, "end": 135625355 }, { "start": 135626240, "end": 135626361 }, { "start": 135627973, "end": 135628111 }, { "start": 135630344, "end": 135630470 }, { "start": 135635581, "end": 135635657 }, { "start": 135637931, "end": 135638059 }, { "start": 135638557, "end": 135638683 }, { "start": 135643192, "end": 135643358 }, { "start": 135644895, "end": 135645018 }, { "start": 135645468, "end": 135645596 }, { "start": 135646158, "end": 135646231 }, { "start": 135648404, "end": 135648753 } ], "cds": { "start": 135557945, "end": 135648556 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 135242667, "end": 135333505, "strand": "+" }, "neighbourhood": { "release": "116", "start": 135103335, "end": 136103334, "genes": [ { "symbol": "AGBL3", "ensemblId": "ENSG00000146856", "biotype": "protein_coding", "start": 134986496, "end": 135147963, "strand": "+", "slug": "agbl3" }, { "symbol": "CYREN", "ensemblId": "ENSG00000122783", "biotype": "protein_coding", "start": 135092363, "end": 135171019, "strand": "-", "slug": "cyren" }, { "symbol": "TMEM140", "ensemblId": "ENSG00000146859", "biotype": "protein_coding", "start": 135148028, "end": 135166519, "strand": "+", "slug": "tmem140" }, { "symbol": "WDR91", "ensemblId": "ENSG00000105875", "biotype": "protein_coding", "start": 135183838, "end": 135211557, "strand": "-", "slug": "wdr91" }, { "symbol": "STRA8", "ensemblId": "ENSG00000146857", "biotype": "protein_coding", "start": 135231979, "end": 135258666, "strand": "+", "slug": "stra8" }, { "symbol": "CNOT4", "ensemblId": "ENSG00000080802", "biotype": "protein_coding", "start": 135361795, "end": 135510145, "strand": "-", "slug": "cnot4" }, { "symbol": "STMP1", "ensemblId": "ENSG00000243317", "biotype": "protein_coding", "start": 135662472, "end": 135702061, "strand": "+", "slug": "stmp1" }, { "symbol": "SLC13A4", "ensemblId": "ENSG00000164707", "biotype": "protein_coding", "start": 135681231, "end": 135729258, "strand": "-", "slug": "slc13a4" }, { "symbol": "FAM180A", "ensemblId": "ENSG00000189320", "biotype": "protein_coding", "start": 135728348, "end": 135748813, "strand": "-", "slug": "fam180a" }, { "symbol": "MTPN", "ensemblId": "ENSG00000105887", "biotype": "protein_coding", "start": 135900135, "end": 135977456, "strand": "-", "slug": "mtpn" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Syndrome néphrotique", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Néphrose", "genes": 29, "inheritance": null, "description": "Processus pathologiques touchant les REINS, sans composante inflammatoire ni néoplasique. La néphrose peut être une affection primitive ou la complication secondaire d'autres maladies. Elle se caractérise par un SYNDROME NÉPHROTIQUE indiquant la présence d'une PROTÉINURIE et d'une HYPOALBUMINÉMIE, accompagnées d'ŒDÈMES.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/nephrotic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "foamy-urine", "name": "Foamy urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foamy-urine" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "minimal-change-glomerulonephritis", "name": "Minimal change glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peritonitis", "name": "Peritonitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peritonitis" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "steroid-resistant-nephrotic-syndrome", "name": "Steroid-resistant nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome" } ], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/fr/genes/arhgdia" }, { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "shared": 1, "url": "https://dantelabs.com/fr/genes/coq6" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/fr/genes/coq8b" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/fr/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/fr/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/emp2" }, { "slug": "itsn1", "symbol": "ITSN1", "name": "intersectin 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/itsn1" }, { "slug": "itsn2", "symbol": "ITSN2", "name": "intersectin 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/itsn2" }, { "slug": "kank2", "symbol": "KANK2", "name": "KN motif and ankyrin repeat domains 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/kank2" }, { "slug": "lama5", "symbol": "LAMA5", "name": "laminin subunit alpha 5", "shared": 1, "url": "https://dantelabs.com/fr/genes/lama5" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }