{ "url": "https://dantelabs.com/de/genes/cd320", "gene": { "slug": "cd320", "symbol": "CD320", "name": "CD320 molecule", "hgnc": "HGNC:16692", "summary": null, "location": "19p13.2", "locusType": "gene with protein product", "aliases": [ "8D6", "8D6A", "TCblR", "TCN2R", "sCD320", "TCII-R" ], "previousSymbols": [], "ensemblId": "ENSG00000167775", "entrezId": 51293, "omim": [ "606475" ], "uniprot": [ "Q9NPF0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 8302127, "end": 8308358, "strand": "-", "ensemblTranscript": "ENST00000301458.10", "refseqTranscript": "NM_016579.4", "ensemblProtein": "ENSP00000301458.4", "refseqProtein": "NP_057663.1", "exons": [ { "start": 8302127, "end": 8302605 }, { "start": 8302777, "end": 8302980 }, { "start": 8303855, "end": 8304088 }, { "start": 8305031, "end": 8305156 }, { "start": 8308149, "end": 8308358 } ], "cds": { "start": 8302463, "end": 8308290 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 8367011, "end": 8373240, "strand": "-" }, "neighbourhood": { "release": "116", "start": 7805243, "end": 8805242, "genes": [ { "symbol": "EVI5L", "ensemblId": "ENSG00000142459", "biotype": "protein_coding", "start": 7830182, "end": 7864980, "strand": "+", "slug": "evi5l" }, { "symbol": "PRR36", "ensemblId": "ENSG00000183248", "biotype": "protein_coding", "start": 7868719, "end": 7874674, "strand": "-", "slug": "prr36" }, { "symbol": "LRRC8E", "ensemblId": "ENSG00000171017", "biotype": "protein_coding", "start": 7888500, "end": 7902021, "strand": "+", "slug": "lrrc8e" }, { "symbol": "MAP2K7", "ensemblId": "ENSG00000076984", "biotype": "protein_coding", "start": 7903823, "end": 7914480, "strand": "+", "slug": "map2k7" }, { "symbol": "TGFBR3L", "ensemblId": "ENSG00000260001", "biotype": "protein_coding", "start": 7914760, "end": 7919097, "strand": "+", "slug": "tgfbr3l" }, { "symbol": "SNAPC2", "ensemblId": "ENSG00000104976", "biotype": "protein_coding", "start": 7920314, "end": 7923250, "strand": "+", "slug": "snapc2" }, { "symbol": "CTXN1", "ensemblId": "ENSG00000178531", "biotype": "protein_coding", "start": 7924491, "end": 7926174, "strand": "-", "slug": "ctxn1" }, { "symbol": "TIMM44", "ensemblId": "ENSG00000104980", "biotype": "protein_coding", "start": 7926715, "end": 7943773, "strand": "-", "slug": "timm44" }, { "symbol": "ELAVL1", "ensemblId": "ENSG00000066044", "biotype": "protein_coding", "start": 7958573, "end": 8006062, "strand": "-", "slug": "elavl1" }, { "symbol": "CCL25", "ensemblId": "ENSG00000131142", "biotype": "protein_coding", "start": 8052293, "end": 8062665, "strand": "+", "slug": "ccl25" }, { "symbol": "FBN3", "ensemblId": "ENSG00000142449", "biotype": "protein_coding", "start": 8065402, "end": 8149693, "strand": "-", "slug": "fbn3" }, { "symbol": "CERS4", "ensemblId": "ENSG00000090661", "biotype": "protein_coding", "start": 8206736, "end": 8263716, "strand": "+", "slug": "cers4" }, { "symbol": "RPS28", "ensemblId": "ENSG00000233927", "biotype": "protein_coding", "start": 8307760, "end": 8323567, "strand": "+", "slug": "rps28" }, { "symbol": "", "ensemblId": "ENSG00000167774", "biotype": "protein_coding", "start": 8308283, "end": 8321379, "strand": "-" }, { "symbol": "NDUFA7", "ensemblId": "ENSG00000267855", "biotype": "protein_coding", "start": 8308593, "end": 8321400, "strand": "-", "slug": "ndufa7" }, { "symbol": "KANK3", "ensemblId": "ENSG00000186994", "biotype": "protein_coding", "start": 8322582, "end": 8343281, "strand": "-", "slug": "kank3" }, { "symbol": "ANGPTL4", "ensemblId": "ENSG00000167772", "biotype": "protein_coding", "start": 8363223, "end": 8374371, "strand": "+", "slug": "angptl4" }, { "symbol": "RAB11B", "ensemblId": "ENSG00000185236", "biotype": "protein_coding", "start": 8389981, "end": 8405875, "strand": "+", "slug": "rab11b" }, { "symbol": "MARCHF2", "ensemblId": "ENSG00000099785", "biotype": "protein_coding", "start": 8411460, "end": 8439017, "strand": "+", "slug": "marchf2" }, { "symbol": "HNRNPM", "ensemblId": "ENSG00000099783", "biotype": "protein_coding", "start": 8444767, "end": 8489118, "strand": "+", "slug": "hnrnpm" }, { "symbol": "PRAM1", "ensemblId": "ENSG00000133246", "biotype": "protein_coding", "start": 8490056, "end": 8502656, "strand": "-", "slug": "pram1" }, { "symbol": "ZNF414", "ensemblId": "ENSG00000133250", "biotype": "protein_coding", "start": 8509678, "end": 8514177, "strand": "-", "slug": "znf414" }, { "symbol": "MYO1F", "ensemblId": "ENSG00000142347", "biotype": "protein_coding", "start": 8517463, "end": 8577473, "strand": "-", "slug": "myo1f" }, { "symbol": "ADAMTS10", "ensemblId": "ENSG00000142303", "biotype": "protein_coding", "start": 8580240, "end": 8610846, "strand": "-", "slug": "adamts10" }, { "symbol": "NFILZ", "ensemblId": "ENSG00000268480", "biotype": "protein_coding", "start": 8630633, "end": 8681151, "strand": "+", "slug": "nfilz" }, { "symbol": "ACTL9", "ensemblId": "ENSG00000181786", "biotype": "protein_coding", "start": 8697400, "end": 8698795, "strand": "-", "slug": "actl9" }, { "symbol": "OR2Z1", "ensemblId": "ENSG00000181733", "biotype": "protein_coding", "start": 8721634, "end": 8732160, "strand": "+", "slug": "or2z1" } ], "truncated": false }, "reports": [ { "slug": "homocystinuria-and-cobalamin-disorders", "name": "Homocystinurie und Störungen des Kobalamin-Stoffwechsels", "diseases": [ { "mondoId": "MONDO:0019220", "name": "Angeborene Störungen des Cobalamin-Stoffwechsels und -Transports", "genes": 15, "inheritance": "autosomal-recessive", "description": "Umfasst Defekte bei der Aufnahme und dem Transport von Vitamin B12, wie das Imerslund-Gräsbeck-Syndrom (CUBN, AMN), den Mangel an Intrinsic Factor (CBLIF) und den Transcobalamin-II-Mangel (TCN2), sowie Defekte bei der intrazellulären Verarbeitung von Cobalamin, die megaloblastäre Anämie, Nervenschäden und Gedeihstörungen verursachen können.", "management": "Wenn Sie davon wissen, können Sie lebenslang Vitamin-B12-Injektionen oder eine andere Cobalamin-Behandlung erhalten. Dies kann Anämie und neurologische Schäden verhindern.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/homocystinuria-and-cobalamin-disorders" }, { "slug": "methylmalonic-and-propionic-acidemia", "name": "Methylmalonazidurie & Propionazidämie", "diseases": [ { "mondoId": "MONDO:0002012", "name": "Methylmalonazidurie", "genes": 12, "inheritance": "autosomal-recessive", "description": "Verursacht durch Varianten in MMUT, MMAA, MMAB, MCEE und verwandten Genen des Cobalamin-Stoffwechsels, die Erbrechen, Trinkschwäche, metabolische Krisen, Entwicklungsstörungen und Nierenerkrankungen auslösen können.", "management": "Das Wissen ermöglicht eine spezialisierte Ernährungsbehandlung, Carnitin, Vitamin B12 bei behandlungsempfindlichen Formen sowie einen Notfallplan, wodurch das Risiko von Krisen sinkt.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/methylmalonic-and-propionic-acidemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hyperhomocystinemia", "name": "Elevated blood homocystine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperhomocystinemia" }, { "slug": "methylmalonic-acidemia", "name": "Methylmalonic acidemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/methylmalonic-acidemia" }, { "slug": "methylmalonic-aciduria", "name": "Methylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/methylmalonic-aciduria" }, { "slug": "reduced-cellular-cobalamin-uptake", "name": "Reduced cellular cobalamin uptake", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-cellular-cobalamin-uptake" } ], "related": [ { "slug": "abcd4", "symbol": "ABCD4", "name": "ATP binding cassette subfamily D member 4", "shared": 2, "url": "https://dantelabs.com/de/genes/abcd4" }, { "slug": "hcfc1", "symbol": "HCFC1", "name": "host cell factor C1", "shared": 2, "url": "https://dantelabs.com/de/genes/hcfc1" }, { "slug": "lmbrd1", "symbol": "LMBRD1", "name": "LMBR1 domain containing 1", "shared": 2, "url": "https://dantelabs.com/de/genes/lmbrd1" }, { "slug": "mmaa", "symbol": "MMAA", "name": "metabolism of cobalamin associated A", "shared": 2, "url": "https://dantelabs.com/de/genes/mmaa" }, { "slug": "mmab", "symbol": "MMAB", "name": "metabolism of cobalamin associated B", "shared": 2, "url": "https://dantelabs.com/de/genes/mmab" }, { "slug": "mmachc", "symbol": "MMACHC", "name": "metabolism of cobalamin associated C", "shared": 2, "url": "https://dantelabs.com/de/genes/mmachc" }, { "slug": "mmadhc", "symbol": "MMADHC", "name": "metabolism of cobalamin associated D", "shared": 2, "url": "https://dantelabs.com/de/genes/mmadhc" }, { "slug": "prdx1", "symbol": "PRDX1", "name": "peroxiredoxin 1", "shared": 2, "url": "https://dantelabs.com/de/genes/prdx1" }, { "slug": "acsf3", "symbol": "ACSF3", "name": "acyl-CoA synthetase family member 3", "shared": 1, "url": "https://dantelabs.com/de/genes/acsf3" }, { "slug": "amn", "symbol": "AMN", "name": "amnion associated transmembrane protein", "shared": 1, "url": "https://dantelabs.com/de/genes/amn" }, { "slug": "cblif", "symbol": "CBLIF", "name": "cobalamin binding intrinsic factor", "shared": 1, "url": "https://dantelabs.com/de/genes/cblif" }, { "slug": "cubn", "symbol": "CUBN", "name": "cubilin", "shared": 1, "url": "https://dantelabs.com/de/genes/cubn" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }