{ "url": "https://dantelabs.com/pt/genes/ganab", "gene": { "slug": "ganab", "symbol": "GANAB", "name": "glucosidase II alpha subunit", "hgnc": "HGNC:4138", "summary": null, "location": "11q12.3", "locusType": "gene with protein product", "aliases": [ "GluII", "G2AN", "KIAA0088", "GIIA", "GIIalpha" ], "previousSymbols": [], "ensemblId": "ENSG00000089597", "entrezId": 23193, "omim": [ "104160" ], "uniprot": [ "Q14697" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 62624829, "end": 62646613, "strand": "-", "ensemblTranscript": "ENST00000356638.8", "refseqTranscript": "NM_198334.3", "ensemblProtein": "ENSP00000349053.3", "refseqProtein": "NP_938148.1", "exons": [ { "start": 62624829, "end": 62625924 }, { "start": 62626065, "end": 62626165 }, { "start": 62626335, "end": 62626447 }, { "start": 62626571, "end": 62626684 }, { "start": 62626860, "end": 62626934 }, { "start": 62627048, "end": 62627124 }, { "start": 62627289, "end": 62627353 }, { "start": 62628769, 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"end": 62712083, "strand": "+", "slug": "gng3" }, { "symbol": "HNRNPUL2", "ensemblId": "ENSG00000214753", "biotype": "protein_coding", "start": 62712630, "end": 62727637, "strand": "-", "slug": "hnrnpul2" }, { "symbol": "", "ensemblId": "ENSG00000310599", "biotype": "protein_coding", "start": 62726885, "end": 62727265, "strand": "-" }, { "symbol": "TTC9C", "ensemblId": "ENSG00000162222", "biotype": "protein_coding", "start": 62727687, "end": 62740293, "strand": "+", "slug": "ttc9c" }, { "symbol": "ZBTB3", "ensemblId": "ENSG00000185670", "biotype": "protein_coding", "start": 62737172, "end": 62758835, "strand": "-", "slug": "zbtb3" }, { "symbol": "POLR2G", "ensemblId": "ENSG00000168002", "biotype": "protein_coding", "start": 62761453, "end": 62766715, "strand": "+", "slug": "polr2g" }, { "symbol": "TAF6L", "ensemblId": "ENSG00000162227", "biotype": "protein_coding", "start": 62771307, "end": 62787342, "strand": "+", "slug": "taf6l" }, { "symbol": "TMEM223", "ensemblId": "ENSG00000168569", "biotype": "protein_coding", "start": 62771629, "end": 62792022, "strand": "-", "slug": "tmem223" }, { "symbol": "TMEM179B", "ensemblId": "ENSG00000185475", "biotype": "protein_coding", "start": 62787375, "end": 62792166, "strand": "+", "slug": "tmem179b" }, { "symbol": "NXF1", "ensemblId": "ENSG00000162231", "biotype": "protein_coding", "start": 62792123, "end": 62806302, "strand": "-", "slug": "nxf1" }, { "symbol": "STX5", "ensemblId": "ENSG00000162236", "biotype": "protein_coding", "start": 62806860, "end": 62832076, "strand": "-", "slug": "stx5" }, { "symbol": "TEX54", "ensemblId": "ENSG00000283268", "biotype": "protein_coding", "start": 62832321, "end": 62832841, "strand": "-", "slug": "tex54" }, { "symbol": "WDR74", "ensemblId": "ENSG00000133316", "biotype": "protein_coding", "start": 62832342, "end": 62842228, "strand": "-", "slug": "wdr74" }, { "symbol": "RNU2-2", "ensemblId": "ENSG00000222328", "biotype": "other", "start": 62841619, "end": 62841809, "strand": "-", "slug": "rnu2-2" }, { "symbol": "SLC3A2", "ensemblId": "ENSG00000168003", "biotype": "protein_coding", "start": 62855970, "end": 62888910, "strand": "+", "slug": "slc3a2" }, { "symbol": "CHRM1", "ensemblId": "ENSG00000168539", "biotype": "protein_coding", "start": 62907828, "end": 62921877, "strand": "-", "slug": "chrm1" }, { "symbol": "SLC22A6", "ensemblId": "ENSG00000197901", "biotype": "protein_coding", "start": 62936385, "end": 62984973, "strand": "-", "slug": "slc22a6" }, { "symbol": "SLC22A8", "ensemblId": "ENSG00000149452", "biotype": "protein_coding", "start": 62989154, "end": 63017561, "strand": "-", "slug": "slc22a8" }, { "symbol": "SLC22A24", "ensemblId": "ENSG00000197658", "biotype": "protein_coding", "start": 63077406, "end": 63144221, "strand": "-", "slug": "slc22a24" } ], "truncated": false }, "reports": [ { "slug": "polycystic-kidney-disease", "name": "Doença Renal Poliquística", "diseases": [ { "mondoId": "MONDO:0020642", "name": "Doença Renal Poliquística", "genes": 11, "inheritance": null, "description": "Doença genética, geralmente de transmissão autossómica dominante e, com menos frequência, autossómica recessiva, caracterizada pela presença de numerosos quistos nos rins que podem levar à insuficiência renal em fase terminal. A forma autossómica dominante está associada a alterações no braço curto do cromossoma 16. Nos doentes com esta forma, os sintomas costumam surgir na meia-idade e incluem dor abdominal, hematúria e hipertensão arterial. Os doentes podem desenvolver aneurismas cerebrais e quistos hepáticos. Os doentes com a forma autossómica recessiva apresentam, desde cedo na vida, insuficiência renal progressiva e sintomas resultantes de fibrose hepática. A forma autossómica recessiva está associada a alterações do cromossoma 6. A doença renal poliquística pode também surgir como efeito secundário em doentes sujeitos a diálise renal.", "management": "Tolvaptan (Jynarque, aprovado pela FDA em 2018) para DRPAD de progressão rápida; controlo da tensão arterial (objetivo <110/75); gestão da dor; tratamento de infeção dos quistos; rastreio de aneurismas intracranianos por angio-RM cerebral; transplante renal para DRT", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/polycystic-kidney-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-systemic-arterial-morphology", "name": "Abnormal systemic arterial morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology" }, { "slug": "abnormal-urinary-electrolyte-concentration", "name": "Abnormal urinary electrolyte concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration" }, { "slug": "albuminuria", "name": "Albuminuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/albuminuria" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "aortic-root-aneurysm", "name": "Bulge in wall of root of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-root-aneurysm" }, { "slug": "calcium-oxalate-nephrolithiasis", "name": "Calcium oxalate nephrolithiasis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/calcium-oxalate-nephrolithiasis" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "decreased-glomerular-filtration-rate", "name": "Decreased glomerular filtration rate", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate" }, { "slug": "decreased-liver-function", "name": "Decreased liver function", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-liver-function" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "enlarged-kidney", "name": "Enlarged kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enlarged-kidney" }, { "slug": "flank-pain", "name": "Flank pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/flank-pain" }, { "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": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hepatic-cysts", "name": "Liver cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatic-cysts" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "pancreatic-cysts", "name": "Pancreatic cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-cysts" }, { "slug": "pituitary-growth-hormone-cell-adenoma", "name": "Pituitary growth hormone cell adenoma", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pituitary-growth-hormone-cell-adenoma" }, { "slug": "polycystic-kidney-dysplasia", "name": "Polycystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia" }, { "slug": "polycystic-liver-disease", "name": "Polycystic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polycystic-liver-disease" }, { "slug": "pyelonephritis", "name": "Pyelonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyelonephritis" }, { "slug": "reduced-sperm-motility", "name": "Reduced sperm motility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-sperm-motility" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "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": "uric-acid-nephrolithiasis", "name": "Uric acid stones", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uric-acid-nephrolithiasis" } ], "related": [ { "slug": "alg5", "symbol": "ALG5", "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/alg5" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/alg9" }, { "slug": "dnajb11", "symbol": "DNAJB11", "name": "DnaJ heat shock protein family (Hsp40) member B11", "shared": 1, "url": "https://dantelabs.com/pt/genes/dnajb11" }, { "slug": "dzip1l", "symbol": "DZIP1L", "name": "DAZ interacting zinc finger protein 1 like", "shared": 1, "url": "https://dantelabs.com/pt/genes/dzip1l" }, { "slug": "ift140", "symbol": "IFT140", "name": "intraflagellar transport 140", "shared": 1, "url": "https://dantelabs.com/pt/genes/ift140" }, { "slug": "nek8", "symbol": "NEK8", "name": "NIMA related kinase 8", "shared": 1, "url": "https://dantelabs.com/pt/genes/nek8" }, { "slug": "pkd1", "symbol": "PKD1", "name": "polycystin 1, transient receptor potential channel interacting", "shared": 1, "url": "https://dantelabs.com/pt/genes/pkd1" }, { "slug": "pkd2", "symbol": "PKD2", "name": "polycystin 2, transient receptor potential cation channel", "shared": 1, "url": "https://dantelabs.com/pt/genes/pkd2" }, { "slug": "pkhd1", "symbol": "PKHD1", "name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin", "shared": 1, "url": "https://dantelabs.com/pt/genes/pkhd1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }