{ "url": "https://dantelabs.com/pl/genes/abcc2", "gene": { "slug": "abcc2", "symbol": "ABCC2", "name": "ATP binding cassette subfamily C member 2", "hgnc": "HGNC:53", "summary": null, "location": "10q24.2", "locusType": "gene with protein product", "aliases": [ "DJS", "MRP2", "cMRP" ], "previousSymbols": [ "CMOAT" ], "ensemblId": "ENSG00000023839", "entrezId": 1244, "omim": [ "601107" ], "uniprot": [ "Q92887" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 99782640, "end": 99852594, "strand": "+", "ensemblTranscript": "ENST00000647814.1", "refseqTranscript": "NM_000392.5", "ensemblProtein": "ENSP00000497274.1", "refseqProtein": "NP_000383.2", "exons": [ { "start": 99782640, "end": 99782877 }, { "start": 99784608, "end": 99784781 }, { "start": 99792234, "end": 99792359 }, { "start": 99793551, "end": 99793685 }, { "start": 99793892, "end": 99793999 }, { "start": 99794413, "end": 99794468 }, { "start": 99797097, "end": 99797331 }, { "start": 99799207, "end": 99799370 }, { "start": 99800386, "end": 99800563 }, { "start": 99804019, "end": 99804273 }, { "start": 99805382, "end": 99805447 }, { "start": 99807384, "end": 99807521 }, { "start": 99808083, "end": 99808229 }, { "start": 99810134, "end": 99810218 }, { "start": 99811536, "end": 99811602 }, { "start": 99813018, "end": 99813144 }, { "start": 99817308, "end": 99817484 }, { "start": 99818790, "end": 99818957 }, { "start": 99819089, "end": 99819269 }, { "start": 99830307, "end": 99830433 }, { "start": 99830716, "end": 99830851 }, { "start": 99831611, "end": 99831830 }, { "start": 99831977, "end": 99832131 }, { "start": 99834380, "end": 99834535 }, { "start": 99836091, "end": 99836290 }, { "start": 99841967, "end": 99842093 }, { "start": 99843799, "end": 99843900 }, { "start": 99844322, "end": 99844465 }, { "start": 99845624, "end": 99845782 }, { "start": 99846961, "end": 99847127 }, { "start": 99850602, "end": 99850796 }, { "start": 99851502, "end": 99852594 } ], "cds": { "start": 99782845, "end": 99851631 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 101542489, "end": 101611949, "strand": "+" }, "neighbourhood": { "release": "116", "start": 99317617, "end": 100317616, "genes": [ { "symbol": "CNNM1", "ensemblId": "ENSG00000119946", "biotype": "protein_coding", "start": 99329030, "end": 99394330, "strand": "+", "slug": "cnnm1" }, { "symbol": "GOT1", "ensemblId": "ENSG00000120053", "biotype": "protein_coding", "start": 99396869, "end": 99431465, "strand": "-", "slug": "got1" }, { "symbol": "NKX2-3", "ensemblId": "ENSG00000119919", "biotype": "protein_coding", "start": 99532928, "end": 99536524, "strand": "+", "slug": "nkx2-3" }, { "symbol": "SLC25A28", "ensemblId": "ENSG00000155287", "biotype": "protein_coding", "start": 99610509, "end": 99622793, "strand": "-", "slug": "slc25a28" }, { "symbol": "", "ensemblId": "ENSG00000285932", "biotype": "protein_coding", "start": 99651595, "end": 99732112, "strand": "-" }, { "symbol": "ENTPD7", "ensemblId": "ENSG00000198018", "biotype": "protein_coding", "start": 99659415, "end": 99712489, "strand": "+", "slug": "entpd7" }, { "symbol": "COX15", "ensemblId": "ENSG00000014919", "biotype": "protein_coding", "start": 99694554, "end": 99732858, "strand": "-", "slug": "cox15" }, { "symbol": "CUTC", "ensemblId": "ENSG00000119929", "biotype": "protein_coding", "start": 99702558, "end": 99758005, "strand": "+", "slug": "cutc" }, { "symbol": "DNMBP", "ensemblId": "ENSG00000107554", "biotype": "protein_coding", "start": 99875576, "end": 100010049, "strand": "-", "slug": "dnmbp" }, { "symbol": "CPN1", "ensemblId": "ENSG00000120054", "biotype": "protein_coding", "start": 100041105, "end": 100081907, "strand": "-", "slug": "cpn1" }, { "symbol": "ERLIN1", "ensemblId": "ENSG00000107566", "biotype": "protein_coding", "start": 100150094, "end": 100186062, "strand": "-", "slug": "erlin1" }, { "symbol": "CHUK", "ensemblId": "ENSG00000213341", "biotype": "protein_coding", "start": 100188299, "end": 100229611, "strand": "-", "slug": "chuk" }, { "symbol": "CWF19L1", "ensemblId": "ENSG00000095485", "biotype": "protein_coding", "start": 100230024, "end": 100267685, "strand": "-", "slug": "cwf19l1" }, { "symbol": "BLOC1S2", "ensemblId": "ENSG00000196072", "biotype": "protein_coding", "start": 100272797, "end": 100286708, "strand": "-", "slug": "bloc1s2" }, { "symbol": "PKD2L1", "ensemblId": "ENSG00000107593", "biotype": "protein_coding", "start": 100288149, "end": 100330264, "strand": "-", "slug": "pkd2l1" } ], "truncated": false }, "reports": [ { "slug": "gilbert-syndrome", "name": "Zespół Gilberta", "diseases": [ { "mondoId": "MONDO:0009380", "name": "Zespół Dubina-Johnsona", "genes": 1, "inheritance": "autosomal-recessive", "description": "Wywoływany przez warianty w ABCC2, które zmniejszają wydzielanie bilirubiny do żółci i powodują łagodną żółtaczkę utrzymującą się przez całe życie, zwykle nieszkodliwą.", "management": "Wiedza ta wyjaśnia podwyższone wyniki bilirubiny i pozwala uniknąć zbędnych badań; żółtaczka może nasilać się w czasie ciąży lub podczas stosowania doustnych środków antykoncepcyjnych.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/gilbert-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-urinary-color", "name": "Abnormal urinary color", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-urinary-color" }, { "slug": "abnormality-of-coagulation", "name": "Abnormality of coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-coagulation" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "abnormal-gastric-mucosa-morphology", "name": "Abnormality of the mucous membrane layer of stomach", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-gastric-mucosa-morphology" }, { "slug": "biliary-tract-abnormality", "name": "Biliary tract abnormality", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/biliary-tract-abnormality" }, { "slug": "conjugated-hyperbilirubinemia", "name": "Conjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/jaundice" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }