{ "url": "https://dantelabs.com/de/genes/xpnpep3", "gene": { "slug": "xpnpep3", "symbol": "XPNPEP3", "name": "X-prolyl aminopeptidase 3", "hgnc": "HGNC:28052", "summary": null, "location": "22q13.2", "locusType": "gene with protein product", "aliases": [ "APP3", "NPHPL1", "ICP55" ], "previousSymbols": [], "ensemblId": "ENSG00000196236", "entrezId": 63929, "omim": [ "613553" ], "uniprot": [ "Q9NQH7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 40857148, "end": 40932815, "strand": "+", "ensemblTranscript": "ENST00000357137.9", "refseqTranscript": "NM_022098.4", "ensemblProtein": "ENSP00000349658.4", "refseqProtein": "NP_071381.1", "exons": [ { "start": 40857148, "end": 40857245 }, { "start": 40868999, "end": 40869115 }, { "start": 40881770, "end": 40882177 }, { "start": 40886313, "end": 40886515 }, { "start": 40907587, "end": 40907649 }, { "start": 40909122, "end": 40909235 }, { "start": 40914239, "end": 40914324 }, { "start": 40922333, "end": 40922513 }, { "start": 40924362, "end": 40924482 }, { "start": 40926269, "end": 40932815 } ], "cds": { "start": 40857182, "end": 40926435 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "22", "start": 41253081, "end": 41363838, "strand": "+" }, "neighbourhood": { "release": "116", "start": 40394982, "end": 41394981, "genes": [ { "symbol": "", "ensemblId": "ENSG00000284431", "biotype": "protein_coding", "start": 40346529, "end": 40410054, "strand": "+" }, { "symbol": "SGSM3", "ensemblId": "ENSG00000100359", "biotype": "protein_coding", "start": 40370564, "end": 40410837, "strand": "+", "slug": "sgsm3" }, { "symbol": "MRTFA", "ensemblId": "ENSG00000196588", "biotype": "protein_coding", "start": 40410281, "end": 40636726, "strand": "-", "slug": "mrtfa" }, { "symbol": "MCHR1", "ensemblId": "ENSG00000128285", "biotype": "protein_coding", "start": 40679273, "end": 40682812, "strand": "+", "slug": "mchr1" }, { "symbol": "SLC25A17", "ensemblId": "ENSG00000100372", "biotype": "protein_coding", "start": 40769630, "end": 40819402, "strand": "-", "slug": "slc25a17" }, { "symbol": "ST13", "ensemblId": "ENSG00000100380", "biotype": "protein_coding", "start": 40824445, "end": 40856919, "strand": "-", "slug": "st13" }, { "symbol": "DNAJB7", "ensemblId": "ENSG00000172404", "biotype": "protein_coding", "start": 40859549, "end": 40862113, "strand": "-", "slug": "dnajb7" }, { "symbol": "RBX1", "ensemblId": "ENSG00000100387", "biotype": "protein_coding", "start": 40951277, "end": 40973539, "strand": "+", "slug": "rbx1" }, { "symbol": "EP300", "ensemblId": "ENSG00000100393", "biotype": "protein_coding", "start": 41091816, "end": 41180077, "strand": "+", "slug": "ep300" }, { "symbol": "L3MBTL2", "ensemblId": "ENSG00000100395", "biotype": "protein_coding", "start": 41205282, "end": 41231623, "strand": "+", "slug": "l3mbtl2" }, { "symbol": "CHADL", "ensemblId": "ENSG00000100399", "biotype": "protein_coding", "start": 41229256, "end": 41241000, "strand": "-", "slug": "chadl" }, { "symbol": "RANGAP1", "ensemblId": "ENSG00000100401", "biotype": "protein_coding", "start": 41243474, "end": 41302744, "strand": "-", "slug": "rangap1" }, { "symbol": "ZC3H7B", "ensemblId": "ENSG00000100403", "biotype": "protein_coding", "start": 41301457, "end": 41360155, "strand": "+", "slug": "zc3h7b" }, { "symbol": "TEF", "ensemblId": "ENSG00000167074", "biotype": "protein_coding", "start": 41367333, "end": 41399326, "strand": "+", "slug": "tef" } ], "truncated": false }, "reports": [ { "slug": "nephronophthisis-senior-loken-syndrome", "name": "Nephronophthise und Senior-Løken-Syndrom", "diseases": [ { "mondoId": "MONDO:0019005", "name": "Nephronophthise", "genes": 17, "inheritance": "autosomal-recessive", "description": "Eine autosomal-rezessiv vererbte Nierenerkrankung, die durch Varianten in NPHP1 und anderen Ziliengenen verursacht wird. Die fortschreitende tubulointerstitielle Vernarbung führt typischerweise in den ersten drei Lebensjahrzehnten zu Nierenversagen.", "management": "Das Wissen um die Erkrankung ermöglicht regelmäßige Kontrollen der Nierenfunktion, die rechtzeitige Planung einer Dialyse oder Transplantation sowie Trägertests für Verwandte.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/nephronophthisis-senior-loken-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "chronic-pancreatitis", "name": "Chronic pancreas inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-pancreatitis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hyperechogenic-kidneys", "name": "Hyperechogenic kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperechogenic-kidneys" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "kinetic-tremor", "name": "Kinetic tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/kinetic-tremor" }, { "slug": "nephronophthisis", "name": "Nephronophthisis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephronophthisis" }, { "slug": "pancreatic-cysts", "name": "Pancreatic cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-cysts" }, { "slug": "renal-corticomedullary-cysts", "name": "Renal corticomedullary cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-corticomedullary-cysts" }, { "slug": "renal-tubular-atrophy", "name": "Renal tubular atrophy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-tubular-atrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "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": "tubular-basement-membrane-disintegration", "name": "Tubular basement membrane disintegration", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tubular-basement-membrane-disintegration" } ], "related": [ { "slug": "adamts9", "symbol": "ADAMTS9", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9", "shared": 1, "url": "https://dantelabs.com/de/genes/adamts9" }, { "slug": "anks6", "symbol": "ANKS6", "name": "ankyrin repeat and sterile alpha motif domain containing 6", "shared": 1, "url": "https://dantelabs.com/de/genes/anks6" }, { "slug": "cep164", "symbol": "CEP164", "name": "centrosomal protein 164", "shared": 1, "url": "https://dantelabs.com/de/genes/cep164" }, { "slug": "cep83", "symbol": "CEP83", "name": "centrosomal protein 83", "shared": 1, "url": "https://dantelabs.com/de/genes/cep83" }, { "slug": "dcdc2", "symbol": "DCDC2", "name": "doublecortin domain containing 2", "shared": 1, "url": "https://dantelabs.com/de/genes/dcdc2" }, { "slug": "glis2", "symbol": "GLIS2", "name": "GLIS family zinc finger 2", "shared": 1, "url": "https://dantelabs.com/de/genes/glis2" }, { "slug": "invs", "symbol": "INVS", "name": "inversin", "shared": 1, "url": "https://dantelabs.com/de/genes/invs" }, { "slug": "mapkbp1", "symbol": "MAPKBP1", "name": "mitogen-activated protein kinase binding protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/mapkbp1" }, { "slug": "nek8", "symbol": "NEK8", "name": "NIMA related kinase 8", "shared": 1, "url": "https://dantelabs.com/de/genes/nek8" }, { "slug": "nphp1", "symbol": "NPHP1", "name": "nephrocystin 1", "shared": 1, "url": "https://dantelabs.com/de/genes/nphp1" }, { "slug": "nphp3", "symbol": "NPHP3", "name": "nephrocystin 3", "shared": 1, "url": "https://dantelabs.com/de/genes/nphp3" }, { "slug": "nphp4", "symbol": "NPHP4", "name": "nephrocystin 4", "shared": 1, "url": "https://dantelabs.com/de/genes/nphp4" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }