{ "url": "https://dantelabs.com/fi/genes/dnajc5", "gene": { "slug": "dnajc5", "symbol": "DNAJC5", "name": "DnaJ heat shock protein family (Hsp40) member C5", "hgnc": "HGNC:16235", "summary": null, "location": "20q13.33", "locusType": "gene with protein product", "aliases": [ "FLJ00118", "FLJ13070", "DNAJC5A" ], "previousSymbols": [ "CLN4" ], "ensemblId": "ENSG00000101152", "entrezId": 80331, "omim": [ "611203" ], "uniprot": [ "Q9H3Z4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 63895126, "end": 63936011, "strand": "+", "ensemblTranscript": "ENST00000360864.9", "refseqTranscript": "NM_025219.3", "ensemblProtein": "ENSP00000354111.4", "refseqProtein": "NP_079495.1", "exons": [ { "start": 63895126, "end": 63895323 }, { "start": 63928335, "end": 63928452 }, { "start": 63929312, "end": 63929525 }, { "start": 63930851, "end": 63931022 }, { "start": 63931465, "end": 63936011 } ], "cds": { "start": 63928346, "end": 63931568 } }, "grch37": { "build": "GRCh37", 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"+", "slug": "tnfrsf6b" }, { "symbol": "ARFRP1", "ensemblId": "ENSG00000101246", "biotype": "protein_coding", "start": 63698622, "end": 63708662, "strand": "-", "slug": "arfrp1" }, { "symbol": "ZGPAT", "ensemblId": "ENSG00000197114", "biotype": "protein_coding", "start": 63707353, "end": 63736150, "strand": "+", "slug": "zgpat" }, { "symbol": "", "ensemblId": "ENSG00000273154", "biotype": "protein_coding", "start": 63708864, "end": 63739103, "strand": "+" }, { "symbol": "LIME1", "ensemblId": "ENSG00000203896", "biotype": "protein_coding", "start": 63736283, "end": 63739108, "strand": "+", "slug": "lime1" }, { "symbol": "", "ensemblId": "ENSG00000273047", "biotype": "protein_coding", "start": 63738270, "end": 63740398, "strand": "+" }, { "symbol": "SLC2A4RG", "ensemblId": "ENSG00000125520", "biotype": "protein_coding", "start": 63739758, "end": 63744603, "strand": "+", "slug": "slc2a4rg" }, { "symbol": "ZBTB46", "ensemblId": "ENSG00000130584", "biotype": "protein_coding", "start": 63743668, "end": 63832455, "strand": "-", "slug": "zbtb46" }, { "symbol": "ABHD16B", "ensemblId": "ENSG00000183260", "biotype": "protein_coding", "start": 63861498, "end": 63862988, "strand": "+", "slug": "abhd16b" }, { "symbol": "TPD52L2", "ensemblId": "ENSG00000101150", "biotype": "protein_coding", "start": 63865199, "end": 63892266, "strand": "+", "slug": "tpd52l2" }, { "symbol": "UCKL1", "ensemblId": "ENSG00000198276", "biotype": "protein_coding", "start": 63939811, "end": 63956500, "strand": "-", "slug": "uckl1" }, { "symbol": "ZNF512B", "ensemblId": "ENSG00000196700", "biotype": "protein_coding", "start": 63956704, "end": 63969967, "strand": "-", "slug": "znf512b" }, { "symbol": "SAMD10", "ensemblId": "ENSG00000130590", "biotype": "protein_coding", "start": 63973610, "end": 63980008, "strand": "-", "slug": "samd10" }, { "symbol": "PRPF6", "ensemblId": "ENSG00000101161", "biotype": "protein_coding", "start": 63979671, "end": 64033984, "strand": "+", "slug": "prpf6" }, { "symbol": "C20orf204", "ensemblId": "ENSG00000196421", "biotype": "protein_coding", "start": 64034344, "end": 64039962, "strand": "+", "slug": "c20orf204" }, { "symbol": "SOX18", "ensemblId": "ENSG00000203883", "biotype": "protein_coding", "start": 64047582, "end": 64050629, "strand": "-", "slug": "sox18" }, { "symbol": "TCEA2", "ensemblId": "ENSG00000171703", "biotype": "protein_coding", "start": 64049836, "end": 64072352, "strand": "+", "slug": "tcea2" }, { "symbol": "RGS19", "ensemblId": "ENSG00000171700", "biotype": "protein_coding", "start": 64073181, "end": 64079988, "strand": "-", "slug": "rgs19" }, { "symbol": "OPRL1", "ensemblId": "ENSG00000125510", "biotype": "protein_coding", "start": 64079967, "end": 64100649, "strand": "+", "slug": "oprl1" }, { "symbol": "LKAAEAR1", "ensemblId": "ENSG00000171695", "biotype": "protein_coding", "start": 64083376, "end": 64084967, "strand": "-", "slug": "lkaaear1" }, { "symbol": "MYT1", "ensemblId": "ENSG00000196132", "biotype": "protein_coding", "start": 64102222, "end": 64242253, "strand": "+", "slug": "myt1" }, { "symbol": "NPBWR2", "ensemblId": "ENSG00000125522", "biotype": "protein_coding", "start": 64103802, "end": 64107565, "strand": "-", "slug": "npbwr2" }, { "symbol": "PCMTD2", "ensemblId": "ENSG00000203880", "biotype": "protein_coding", "start": 64254921, "end": 64304820, "strand": "+", "slug": "pcmtd2" } ], "truncated": false }, "reports": [ { "slug": "neuronal-ceroid-lipofuscinosis", "name": "Neuronaalinen keroidilipofustinoosi", "diseases": [ { "mondoId": "MONDO:0016295", "name": "Neuronaalinen keroidilipofustinoosi", "genes": 13, "inheritance": "autosomal-recessive", "description": "Joukko perinnöllisiä, etenevästi rappeutuvia aivosairauksia, joille on kliinisesti tyypillistä henkisten ja muiden toimintojen heikkeneminen, epilepsia sekä verkkokalvon rappeutumisen aiheuttama näön heikkeneminen. Patologisesti niille on ominaista autofluoresoivan aineen, keroidilipofuskiinin, kertyminen solunsisäisesti aivojen ja verkkokalvon hermosoluihin.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/neuronal-ceroid-lipofuscinosis" }, { "slug": "lysosomal-storage-disease", "name": "Lysosomaalinen varastosairaus", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lysosomaalinen kertymäsairaus (muut ja määrittelemättömät tyypit)", "genes": 59, "inheritance": null, "description": "Kattaa lysosomaaliset kertymäsairaudet, joilla ei ole omaa raporttia, kuten Farberin tauti ja muut ASAH1-geeniin liittyvät sairaudet, prosapsiini- (PSAP) -puutokset, multippeli sulfataasipuutos, mukopolysakkaridoosi tyypit IX ja X sekä Dorfman-Chanarinin tauti. Periytymistapa vaihtelee alatyypeittäin, useimmiten autosomaalisesti resessiivinen.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fi/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "abnormal-cerebellum-morphology", "name": "Abnormality of the cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material", "name": "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/curvilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depression" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material", "name": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "auditory-hallucination", "name": "Hallucinations of sound", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/auditory-hallucination" }, { "slug": "increased-neuronal-autofluorescent-lipopigment", "name": "Increased neuronal autofluorescent lipopigment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/increased-neuronal-autofluorescent-lipopigment" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "rectilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material", "name": "Rectilinear intracellular accumulation of autofluorescent lipopigment storage material", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/rectilinear-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material" }, { "slug": "vascular-granular-osmiophilic-material-deposition", "name": "Vascular granular osmiophilic material deposition", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vascular-granular-osmiophilic-material-deposition" }, { "slug": "visual-hallucination", "name": "Visual hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/visual-hallucination" } ], "related": [ { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 2, "url": "https://dantelabs.com/fi/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 2, "url": "https://dantelabs.com/fi/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 2, "url": "https://dantelabs.com/fi/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 2, "url": "https://dantelabs.com/fi/genes/cln6" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 2, "url": "https://dantelabs.com/fi/genes/cln8" }, { "slug": "ctsd", "symbol": "CTSD", "name": "cathepsin D", "shared": 2, "url": "https://dantelabs.com/fi/genes/ctsd" }, { "slug": "ctsf", "symbol": "CTSF", "name": "cathepsin F", "shared": 2, "url": "https://dantelabs.com/fi/genes/ctsf" }, { "slug": "grn", "symbol": "GRN", "name": "granulin precursor", "shared": 2, "url": "https://dantelabs.com/fi/genes/grn" }, { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "shared": 2, "url": "https://dantelabs.com/fi/genes/kctd7" }, { "slug": "mfsd8", "symbol": "MFSD8", "name": "major facilitator superfamily domain containing 8", "shared": 2, "url": "https://dantelabs.com/fi/genes/mfsd8" }, { "slug": "ppt1", "symbol": "PPT1", "name": "palmitoyl-protein thioesterase 1", "shared": 2, "url": "https://dantelabs.com/fi/genes/ppt1" }, { "slug": "tpp1", "symbol": "TPP1", "name": "tripeptidyl peptidase 1", "shared": 2, "url": "https://dantelabs.com/fi/genes/tpp1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }