{ "url": "https://dantelabs.com/nl/genes/mapkbp1", "gene": { "slug": "mapkbp1", "symbol": "MAPKBP1", "name": "mitogen-activated protein kinase binding protein 1", "hgnc": "HGNC:29536", "summary": null, "location": "15q15.1", "locusType": "gene with protein product", "aliases": [ "KIAA0596", "NPHP20" ], "previousSymbols": [], "ensemblId": "ENSG00000137802", "entrezId": 23005, "omim": [ "616786" ], "uniprot": [ "O60336" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 41774484, "end": 41827855, "strand": "+", "ensemblTranscript": "ENST00000457542.7", "refseqTranscript": "NM_014994.3", "ensemblProtein": "ENSP00000397570.2", "refseqProtein": "NP_055809.2", "exons": [ { "start": 41774484, "end": 41774610 }, { "start": 41775167, "end": 41775389 }, { "start": 41799823, "end": 41799914 }, { "start": 41810883, "end": 41810945 }, { "start": 41811178, "end": 41811235 }, { "start": 41811957, "end": 41812127 }, { "start": 41812516, "end": 41812653 }, { "start": 41812919, 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{ "build": "GRCh37", "release": "87", "chrom": "15", "start": 42066632, "end": 42120053, "strand": "+" }, "neighbourhood": { "release": "116", "start": 41301170, "end": 42301169, "genes": [ { "symbol": "", "ensemblId": "ENSG00000285920", "biotype": "protein_coding", "start": 41284007, "end": 41380996, "strand": "+" }, { "symbol": "OIP5", "ensemblId": "ENSG00000104147", "biotype": "protein_coding", "start": 41306412, "end": 41332680, "strand": "-", "slug": "oip5" }, { "symbol": "NUSAP1", "ensemblId": "ENSG00000137804", "biotype": "protein_coding", "start": 41320794, "end": 41381367, "strand": "+", "slug": "nusap1" }, { "symbol": "NDUFAF1", "ensemblId": "ENSG00000137806", "biotype": "protein_coding", "start": 41387218, "end": 41409403, "strand": "-", "slug": "ndufaf1" }, { "symbol": "RTF1", "ensemblId": "ENSG00000137815", "biotype": "protein_coding", "start": 41408408, "end": 41483563, "strand": "+", "slug": "rtf1" }, { "symbol": "ITPKA", "ensemblId": "ENSG00000137825", "biotype": "protein_coding", "start": 41493360, "end": 41503554, "strand": "+", "slug": "itpka" }, { "symbol": "LTK", "ensemblId": "ENSG00000062524", "biotype": "protein_coding", "start": 41503634, "end": 41513887, "strand": "-", "slug": "ltk" }, { "symbol": "RPAP1", "ensemblId": "ENSG00000103932", "biotype": "protein_coding", "start": 41516557, "end": 41544281, "strand": "-", "slug": "rpap1" }, { "symbol": "TYRO3", "ensemblId": "ENSG00000092445", "biotype": "protein_coding", "start": 41557675, "end": 41584334, "strand": "+", "slug": "tyro3" }, { "symbol": "MGA", "ensemblId": "ENSG00000174197", "biotype": "protein_coding", "start": 41621134, "end": 41773081, "strand": "+", "slug": "mga" }, { "symbol": "JMJD7", "ensemblId": "ENSG00000243789", "biotype": "protein_coding", "start": 41828067, "end": 41837589, "strand": "+", "slug": "jmjd7" }, { "symbol": "JMJD7-PLA2G4B", "ensemblId": "ENSG00000168970", "biotype": "protein_coding", "start": 41828095, "end": 41848155, "strand": "+", "slug": "jmjd7-pla2g4b" }, { "symbol": "PLA2G4B", "ensemblId": "ENSG00000243708", "biotype": "protein_coding", "start": 41837775, "end": 41848147, "strand": "+", "slug": "pla2g4b" }, { "symbol": "SPTBN5", "ensemblId": "ENSG00000137877", "biotype": "protein_coding", "start": 41848146, "end": 41894053, "strand": "-", "slug": "sptbn5" }, { "symbol": "EHD4", "ensemblId": "ENSG00000103966", "biotype": "protein_coding", "start": 41895928, "end": 41972614, "strand": "-", "slug": "ehd4" }, { "symbol": "PLA2G4E", "ensemblId": "ENSG00000188089", "biotype": "protein_coding", "start": 41981394, "end": 42051190, "strand": "-", "slug": "pla2g4e" }, { "symbol": "PLA2G4D", "ensemblId": "ENSG00000159337", "biotype": "protein_coding", "start": 42067009, "end": 42094565, "strand": "-", "slug": "pla2g4d" }, { "symbol": "PLA2G4F", "ensemblId": "ENSG00000168907", "biotype": "protein_coding", "start": 42139034, "end": 42156659, "strand": "-", "slug": "pla2g4f" }, { "symbol": "VPS39", "ensemblId": "ENSG00000166887", "biotype": "protein_coding", "start": 42158701, "end": 42208326, "strand": "-", "slug": "vps39" }, { "symbol": "TMEM87A", "ensemblId": "ENSG00000103978", "biotype": "protein_coding", "start": 42209667, "end": 42274128, "strand": "-", "slug": "tmem87a" }, { "symbol": "GANC", "ensemblId": "ENSG00000214013", "biotype": "protein_coding", "start": 42273196, "end": 42353666, "strand": "+", "slug": "ganc" } ], "truncated": false }, "reports": [ { "slug": "nephronophthisis-senior-loken-syndrome", "name": "Nefronoftisis en het Senior-Løken-syndroom", "diseases": [ { "mondoId": "MONDO:0019005", "name": "Nefronoftisis", "genes": 17, "inheritance": "autosomal-recessive", "description": "Een recessief overgeerfelijke nierziekte, veroorzaakt door varianten in NPHP1 en andere cilia-genen, waarbij progressieve tubulointerstitiële littekenvorming leidt tot nierfalen, meestal in de eerste drie decennia van het leven.", "management": "Door dit te weten kunt u de nierfunctie regelmatig laten controleren, tijdig dialyse of transplantatie plannen en familieleden laten testen op dragerschap.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/nephronophthisis-senior-loken-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "nephronophthisis", "name": "Nephronophthisis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephronophthisis" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "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": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" } ], "related": [ { "slug": "adamts9", "symbol": "ADAMTS9", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9", "shared": 1, "url": "https://dantelabs.com/nl/genes/adamts9" }, { "slug": "anks6", "symbol": "ANKS6", "name": "ankyrin repeat and sterile alpha motif domain containing 6", "shared": 1, "url": "https://dantelabs.com/nl/genes/anks6" }, { "slug": "cep164", "symbol": "CEP164", "name": "centrosomal protein 164", "shared": 1, "url": "https://dantelabs.com/nl/genes/cep164" }, { "slug": "cep83", "symbol": "CEP83", "name": "centrosomal protein 83", "shared": 1, "url": "https://dantelabs.com/nl/genes/cep83" }, { "slug": "dcdc2", "symbol": "DCDC2", "name": "doublecortin domain containing 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/dcdc2" }, { "slug": "glis2", "symbol": "GLIS2", "name": "GLIS family zinc finger 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/glis2" }, { "slug": "invs", "symbol": "INVS", "name": "inversin", "shared": 1, "url": "https://dantelabs.com/nl/genes/invs" }, { "slug": "nek8", "symbol": "NEK8", "name": "NIMA related kinase 8", "shared": 1, "url": "https://dantelabs.com/nl/genes/nek8" }, { "slug": "nphp1", "symbol": "NPHP1", "name": "nephrocystin 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/nphp1" }, { "slug": "nphp3", "symbol": "NPHP3", "name": "nephrocystin 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/nphp3" }, { "slug": "nphp4", "symbol": "NPHP4", "name": "nephrocystin 4", "shared": 1, "url": "https://dantelabs.com/nl/genes/nphp4" }, { "slug": "tmem67", "symbol": "TMEM67", "name": "transmembrane protein 67", "shared": 1, "url": "https://dantelabs.com/nl/genes/tmem67" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }