{ "url": "https://dantelabs.com/da/genes/atp2c1", "gene": { "slug": "atp2c1", "symbol": "ATP2C1", "name": "ATPase secretory pathway Ca2+ transporting 1", "hgnc": "HGNC:13211", "summary": null, "location": "3q22.1", "locusType": "gene with protein product", "aliases": [ "KIAA1347", "ATP2C1A", "PMR1", "SPCA1" ], "previousSymbols": [ "BCPM" ], "ensemblId": "ENSG00000017260", "entrezId": 27032, "omim": [ "604384" ], "uniprot": [ "P98194" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 130894084, "end": 131003150, "strand": "+", "ensemblTranscript": "ENST00000510168.6", "refseqTranscript": "NM_001378687.1", "ensemblProtein": "ENSP00000427461.1", "refseqProtein": "NP_001365616.1", "exons": [ { "start": 130894084, "end": 130894337 }, { "start": 130894590, "end": 130894775 }, { "start": 130930416, "end": 130930526 }, { "start": 130932022, "end": 130932138 }, { "start": 130934622, "end": 130934711 }, { "start": 130937428, "end": 130937463 }, { "start": 130940630, "end": 130940691 }, { "start": 130941591, "end": 130941699 }, { "start": 130953821, "end": 130953976 }, { "start": 130955012, "end": 130955080 }, { "start": 130956104, "end": 130956179 }, { "start": 130959275, "end": 130959341 }, { "start": 130963971, "end": 130964095 }, { "start": 130964948, "end": 130965045 }, { "start": 130967145, "end": 130967240 }, { "start": 130967330, "end": 130967419 }, { "start": 130969292, "end": 130969396 }, { "start": 130975332, "end": 130975488 }, { "start": 130979249, "end": 130979419 }, { "start": 130980582, "end": 130980679 }, { "start": 130992951, "end": 130993001 }, { "start": 130993932, "end": 130994098 }, { "start": 130996043, "end": 130996111 }, { "start": 130996680, "end": 130996796 }, { "start": 130997606, "end": 130997753 }, { "start": 130998294, "end": 130998389 }, { "start": 130999518, "end": 130999659 }, { "start": 131001220, "end": 131003150 } ], "cds": { "start": 130894770, "end": 131001350 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 130569439, "end": 130735556, "strand": "+" }, "neighbourhood": { "release": "116", "start": 130448617, "end": 131448616, "genes": [ { "symbol": "COL6A5", "ensemblId": "ENSG00000172752", "biotype": "protein_coding", "start": 130345516, "end": 130484846, "strand": "+", "slug": "col6a5" }, { "symbol": "COL6A6", "ensemblId": "ENSG00000206384", "biotype": "protein_coding", "start": 130517171, "end": 130677044, "strand": "+", "slug": "col6a6" }, { "symbol": "PIK3R4", "ensemblId": "ENSG00000196455", "biotype": "protein_coding", "start": 130678923, "end": 130746857, "strand": "-", "slug": "pik3r4" }, { "symbol": "ASTE1", "ensemblId": "ENSG00000034533", "biotype": "protein_coding", "start": 131013065, "end": 131027649, "strand": "-", "slug": "aste1" }, { "symbol": "NEK11", "ensemblId": "ENSG00000114670", "biotype": "protein_coding", "start": 131026845, "end": 131353043, "strand": "+", "slug": "nek11" }, { "symbol": "NUDT16", "ensemblId": "ENSG00000198585", "biotype": "protein_coding", "start": 131381671, "end": 131388830, "strand": "+", "slug": "nudt16" } ], "truncated": false }, "reports": [ { "slug": "autoimmune-disease", "name": "Autoimmun sygdom", "diseases": [ { "mondoId": "MONDO:0007179", "name": "Autoimmun sygdom", "genes": 20, "inheritance": null, "description": "En lidelse, der skyldes tab af funktion eller vævsnedbrydning i et organ eller flere organer, og som opstår ved humorale eller cellulære immunreaktioner hos det enkelte individ mod egne vævsbestanddele. Den kan være systemisk (f.eks. systemisk lupus erythematosus) eller organspecifik (f.eks. thyreoiditis).", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/autoimmune-disease" }, { "slug": "darier-and-hailey-hailey-disease", "name": "Darier- og Hailey-Hailey-sygdom", "diseases": [ { "mondoId": "MONDO:0008218", "name": "Hailey-Hailey-sygdom", "genes": 1, "inheritance": "autosomal-dominant", "description": "En ATP2C1-lidelse, der giver tilbagevendende smertefulde blærer og erosioner i hudfolder, f.eks. i armhulerne og lyskerne.", "management": "At holde hudfolder kølige og tørre og behandle infektioner tidligt hjælper med at kontrollere udbrud.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/darier-and-hailey-hailey-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acantholysis", "name": "Acantholysis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/acantholysis" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "skin-erosion", "name": "Skin erosion", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-erosion" }, { "slug": "skin-vesicle", "name": "Skin vesicle", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-vesicle" } ], "related": [ { "slug": "aire", "symbol": "AIRE", "name": "autoimmune regulator", "shared": 1, "url": "https://dantelabs.com/da/genes/aire" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 1, "url": "https://dantelabs.com/da/genes/c1qa" }, { "slug": "casp10", "symbol": "CASP10", "name": "caspase 10", "shared": 1, "url": "https://dantelabs.com/da/genes/casp10" }, { "slug": "casp8", "symbol": "CASP8", "name": "caspase 8", "shared": 1, "url": "https://dantelabs.com/da/genes/casp8" }, { "slug": "cblb", "symbol": "CBLB", "name": "Cbl proto-oncogene B", "shared": 1, "url": "https://dantelabs.com/da/genes/cblb" }, { "slug": "chrng", "symbol": "CHRNG", "name": "cholinergic receptor nicotinic gamma subunit", "shared": 1, "url": "https://dantelabs.com/da/genes/chrng" }, { "slug": "ctla4", "symbol": "CTLA4", "name": "cytotoxic T-lymphocyte associated protein 4", "shared": 1, "url": "https://dantelabs.com/da/genes/ctla4" }, { "slug": "dnase1l3", "symbol": "DNASE1L3", "name": "deoxyribonuclease 1L3", "shared": 1, "url": "https://dantelabs.com/da/genes/dnase1l3" }, { "slug": "fas", "symbol": "FAS", "name": "Fas cell surface death receptor", "shared": 1, "url": "https://dantelabs.com/da/genes/fas" }, { "slug": "faslg", "symbol": "FASLG", "name": "Fas ligand", "shared": 1, "url": "https://dantelabs.com/da/genes/faslg" }, { "slug": "foxp3", "symbol": "FOXP3", "name": "forkhead box P3", "shared": 1, "url": "https://dantelabs.com/da/genes/foxp3" }, { "slug": "kras", "symbol": "KRAS", "name": "KRas proto-oncogene, GTPase", "shared": 1, "url": "https://dantelabs.com/da/genes/kras" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }