{ "url": "https://dantelabs.com/da/genes/slc4a3", "gene": { "slug": "slc4a3", "symbol": "SLC4A3", "name": "solute carrier family 4 member 3", "hgnc": "HGNC:11029", "summary": null, "location": "2q35", "locusType": "gene with protein product", "aliases": [ "AE3", "SLC2C" ], "previousSymbols": [], "ensemblId": "ENSG00000114923", "entrezId": 6508, "omim": [ "106195" ], "uniprot": [ "P48751" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 219627630, "end": 219641971, "strand": "+", "ensemblTranscript": "ENST00000358055.8", "refseqTranscript": "NM_005070.4", "ensemblProtein": "ENSP00000350756.3", "refseqProtein": "NP_005061.3", "exons": [ { "start": 219627630, "end": 219627745 }, { "start": 219627900, "end": 219628043 }, { "start": 219628405, "end": 219628570 }, { "start": 219629144, "end": 219629421 }, { "start": 219629580, "end": 219629695 }, { "start": 219630153, "end": 219630352 }, { "start": 219631968, "end": 219632116 }, { "start": 219632262, "end": 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"strand": "+", "slug": "tuba4b" }, { "symbol": "DNAJB2", "ensemblId": "ENSG00000135924", "biotype": "protein_coding", "start": 219279308, "end": 219286900, "strand": "+", "slug": "dnajb2" }, { "symbol": "PTPRN", "ensemblId": "ENSG00000054356", "biotype": "protein_coding", "start": 219289623, "end": 219309648, "strand": "-", "slug": "ptprn" }, { "symbol": "RESP18", "ensemblId": "ENSG00000182698", "biotype": "protein_coding", "start": 219327407, "end": 219335552, "strand": "-", "slug": "resp18" }, { "symbol": "DNPEP", "ensemblId": "ENSG00000123992", "biotype": "protein_coding", "start": 219360090, "end": 219400022, "strand": "-", "slug": "dnpep" }, { "symbol": "DES", "ensemblId": "ENSG00000175084", "biotype": "protein_coding", "start": 219417474, "end": 219426740, "strand": "+", "slug": "des" }, { "symbol": "SPEG", "ensemblId": "ENSG00000072195", "biotype": "protein_coding", "start": 219434471, "end": 219493629, "strand": "+", "slug": "speg" }, { "symbol": "", "ensemblId": "ENSG00000286143", "biotype": "protein_coding", "start": 219491867, "end": 219498244, "strand": "+" }, { "symbol": "SPEGNB", "ensemblId": "ENSG00000286095", "biotype": "protein_coding", "start": 219496129, "end": 219498287, "strand": "+", "slug": "spegnb" }, { "symbol": "GMPPA", "ensemblId": "ENSG00000144591", "biotype": "protein_coding", "start": 219498618, "end": 219513898, "strand": "+", "slug": "gmppa" }, { "symbol": "ASIC4", "ensemblId": "ENSG00000072182", "biotype": "protein_coding", "start": 219514170, "end": 219538772, "strand": "+", "slug": "asic4" }, { "symbol": "CHPF", "ensemblId": "ENSG00000123989", "biotype": "protein_coding", "start": 219538949, "end": 219543818, "strand": "-", "slug": "chpf" }, { "symbol": "TMEM198", "ensemblId": "ENSG00000188760", "biotype": "protein_coding", "start": 219543130, "end": 219550595, "strand": "+", "slug": "tmem198" }, { "symbol": "OBSL1", "ensemblId": "ENSG00000124006", "biotype": "protein_coding", "start": 219550727, "end": 219572076, "strand": "-", "slug": "obsl1" }, { "symbol": "INHA", "ensemblId": "ENSG00000123999", "biotype": "protein_coding", "start": 219569162, "end": 219575711, "strand": "+", "slug": "inha" }, { "symbol": "STK11IP", "ensemblId": "ENSG00000144589", "biotype": "protein_coding", "start": 219595805, "end": 219616452, "strand": "+", "slug": "stk11ip" } ], "truncated": false }, "reports": [ { "slug": "renal-tubular-acidosis", "name": "Renal tubulær acidose", "diseases": [ { "mondoId": "MONDO:0015827", "name": "Distal renal tubulær acidose", "genes": 5, "inheritance": "autosomal-recessive", "description": "En arvelig nedsat evne hos nyrernes samlerør til at udskille syre, forårsaget af varianter i SLC4A1, ATP6V1B1, ATP6V0A4 og andre gener; nogle former medfører også høretab.", "management": "Alkalisk behandling kan forebygge forkalkning i nyrerne og vækstproblemer, og nogle former bør undersøges for høretab.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/renal-tubular-acidosis" }, { "slug": "short-qt-syndrome", "name": "Short QT-syndrom", "diseases": [ { "mondoId": "MONDO:0000453", "name": "Short QT-syndrom", "genes": 4, "inheritance": "autosomal-dominant", "description": "En genetisk sygdom i hjertets elektriske system, som består af en kombination af tegn og symptomer: et kort QT-interval på et EKG (< 300 ms), der ikke ændrer sig væsentligt med hjertefrekvensen, høje og spidse T-bølger samt et strukturelt normalt hjerte. Short QT-syndrom ser ud til at nedarves autosomalt dominant, og der er identificeret enkelte berørte familier", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/short-qt-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "atrioventricular-block", "name": "Interruption of electrical communication between upper and lower chambers of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrioventricular-block" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "shortened-qt-interval", "name": "Shortened QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/shortened-qt-interval" }, { "slug": "bradycardia", "name": "Slow heartbeats", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bradycardia" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "ventricular-arrhythmia", "name": "Ventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-arrhythmia" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-fibrillation" } ], "related": [ { "slug": "atp6v0a4", "symbol": "ATP6V0A4", "name": "ATPase H+ transporting V0 subunit a4", "shared": 1, "url": "https://dantelabs.com/da/genes/atp6v0a4" }, { "slug": "atp6v1b1", "symbol": "ATP6V1B1", "name": "ATPase H+ transporting V1 subunit B1", "shared": 1, "url": "https://dantelabs.com/da/genes/atp6v1b1" }, { "slug": "foxi1", "symbol": "FOXI1", "name": "forkhead box I1", "shared": 1, "url": "https://dantelabs.com/da/genes/foxi1" }, { "slug": "kcnh2", "symbol": "KCNH2", "name": "potassium voltage-gated channel subfamily H member 2", "shared": 1, "url": "https://dantelabs.com/da/genes/kcnh2" }, { "slug": "kcnj2", "symbol": "KCNJ2", "name": "potassium inwardly rectifying channel subfamily J member 2", "shared": 1, "url": "https://dantelabs.com/da/genes/kcnj2" }, { "slug": "kcnq1", "symbol": "KCNQ1", "name": "potassium voltage-gated channel subfamily Q member 1", "shared": 1, "url": "https://dantelabs.com/da/genes/kcnq1" }, { "slug": "slc4a1", "symbol": "SLC4A1", "name": "solute carrier family 4 member 1 (Diego blood group)", "shared": 1, "url": "https://dantelabs.com/da/genes/slc4a1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }