{
  "url": "https://dantelabs.com/hu/genes/tcn2",
  "gene": {
    "slug": "tcn2",
    "symbol": "TCN2",
    "name": "transcobalamin 2",
    "hgnc": "HGNC:11653",
    "summary": null,
    "location": "22q12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "D22S676",
      "D22S750",
      "TC2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000185339",
    "entrezId": 6948,
    "omim": [
      "613441"
    ],
    "uniprot": [
      "P20062"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 30607174,
      "end": 30627271,
      "strand": "+",
      "ensemblTranscript": "ENST00000215838.8",
      "refseqTranscript": "NM_000355.4",
      "ensemblProtein": "ENSP00000215838.3",
      "refseqProtein": "NP_000346.2",
      "exons": [
        {
          "start": 30607174,
          "end": 30607395
        },
        {
          "start": 30610871,
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        },
        {
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          "end": 30627271
        }
      ],
      "cds": {
        "start": 30607332,
        "end": 30626521
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
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      "end": 31023265,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "HORMAD2",
          "ensemblId": "ENSG00000176635",
          "biotype": "protein_coding",
          "start": 30080444,
          "end": 30211427,
          "strand": "+",
          "slug": "hormad2"
        },
        {
          "symbol": "LIF",
          "ensemblId": "ENSG00000128342",
          "biotype": "protein_coding",
          "start": 30240453,
          "end": 30246804,
          "strand": "-",
          "slug": "lif"
        },
        {
          "symbol": "OSM",
          "ensemblId": "ENSG00000099985",
          "biotype": "protein_coding",
          "start": 30262829,
          "end": 30266858,
          "strand": "-",
          "slug": "osm"
        },
        {
          "symbol": "CASTOR1",
          "ensemblId": "ENSG00000239282",
          "biotype": "protein_coding",
          "start": 30285114,
          "end": 30289694,
          "strand": "-",
          "slug": "castor1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000248751",
          "biotype": "protein_coding",
          "start": 30285238,
          "end": 30299482,
          "strand": "-"
        },
        {
          "symbol": "TBC1D10A",
          "ensemblId": "ENSG00000099992",
          "biotype": "protein_coding",
          "start": 30291990,
          "end": 30326947,
          "strand": "-",
          "slug": "tbc1d10a"
        },
        {
          "symbol": "SF3A1",
          "ensemblId": "ENSG00000099995",
          "biotype": "protein_coding",
          "start": 30331988,
          "end": 30356919,
          "strand": "-",
          "slug": "sf3a1"
        },
        {
          "symbol": "CCDC157",
          "ensemblId": "ENSG00000187860",
          "biotype": "protein_coding",
          "start": 30356631,
          "end": 30378673,
          "strand": "+",
          "slug": "ccdc157"
        },
        {
          "symbol": "RNF215",
          "ensemblId": "ENSG00000099999",
          "biotype": "protein_coding",
          "start": 30368811,
          "end": 30421771,
          "strand": "-",
          "slug": "rnf215"
        },
        {
          "symbol": "SEC14L2",
          "ensemblId": "ENSG00000100003",
          "biotype": "protein_coding",
          "start": 30396941,
          "end": 30425303,
          "strand": "+",
          "slug": "sec14l2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000249590",
          "biotype": "protein_coding",
          "start": 30409255,
          "end": 30428990,
          "strand": "+"
        },
        {
          "symbol": "MTFP1",
          "ensemblId": "ENSG00000242114",
          "biotype": "protein_coding",
          "start": 30425623,
          "end": 30429058,
          "strand": "+",
          "slug": "mtfp1"
        },
        {
          "symbol": "SEC14L3",
          "ensemblId": "ENSG00000100012",
          "biotype": "protein_coding",
          "start": 30447959,
          "end": 30472056,
          "strand": "-",
          "slug": "sec14l3"
        },
        {
          "symbol": "SEC14L4",
          "ensemblId": "ENSG00000133488",
          "biotype": "protein_coding",
          "start": 30488890,
          "end": 30505725,
          "strand": "-",
          "slug": "sec14l4"
        },
        {
          "symbol": "SEC14L6",
          "ensemblId": "ENSG00000214491",
          "biotype": "protein_coding",
          "start": 30522799,
          "end": 30546741,
          "strand": "-",
          "slug": "sec14l6"
        },
        {
          "symbol": "GAL3ST1",
          "ensemblId": "ENSG00000128242",
          "biotype": "protein_coding",
          "start": 30554632,
          "end": 30576210,
          "strand": "-",
          "slug": "gal3st1"
        },
        {
          "symbol": "PES1",
          "ensemblId": "ENSG00000100029",
          "biotype": "protein_coding",
          "start": 30576624,
          "end": 30607083,
          "strand": "-",
          "slug": "pes1"
        },
        {
          "symbol": "SLC35E4",
          "ensemblId": "ENSG00000100036",
          "biotype": "protein_coding",
          "start": 30635673,
          "end": 30669016,
          "strand": "+",
          "slug": "slc35e4"
        },
        {
          "symbol": "DUSP18",
          "ensemblId": "ENSG00000167065",
          "biotype": "protein_coding",
          "start": 30652051,
          "end": 30667887,
          "strand": "-",
          "slug": "dusp18"
        },
        {
          "symbol": "OSBP2",
          "ensemblId": "ENSG00000184792",
          "biotype": "protein_coding",
          "start": 30693782,
          "end": 30907824,
          "strand": "+",
          "slug": "osbp2"
        },
        {
          "symbol": "MORC2",
          "ensemblId": "ENSG00000133422",
          "biotype": "protein_coding",
          "start": 30925130,
          "end": 30969662,
          "strand": "-",
          "slug": "morc2"
        },
        {
          "symbol": "TUG1",
          "ensemblId": "ENSG00000253352",
          "biotype": "protein_coding",
          "start": 30969245,
          "end": 30979413,
          "strand": "+",
          "slug": "tug1"
        },
        {
          "symbol": "SMTN",
          "ensemblId": "ENSG00000183963",
          "biotype": "protein_coding",
          "start": 31064105,
          "end": 31104757,
          "strand": "+",
          "slug": "smtn"
        },
        {
          "symbol": "SELENOM",
          "ensemblId": "ENSG00000198832",
          "biotype": "protein_coding",
          "start": 31104772,
          "end": 31120069,
          "strand": "-",
          "slug": "selenom"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinuria & Cobalamin Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0019220",
            "name": "Inborn Disorders of Cobalamin Metabolism and Transport",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Includes defects in vitamin B12 absorption and transport such as Imerslund-Gräsbeck syndrome (CUBN, AMN), intrinsic factor deficiency (CBLIF) and transcobalamin II deficiency (TCN2), as well as intracellular cobalamin processing defects, which can cause megaloblastic anaemia, nerve damage and failure to thrive.",
            "management": "Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-chromosome-stability",
        "name": "Abnormality of chromosome stability",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "erythroid-hypoplasia",
        "name": "Erythroid hypoplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythroid-hypoplasia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "megaloblastic-bone-marrow",
        "name": "Megaloblastic bone marrow",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megaloblastic-bone-marrow"
      },
      {
        "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": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "reticulocytopenia",
        "name": "Reticulocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/reticulocytopenia"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abcd4"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "name": "amnion associated transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/amn"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "name": "cobalamin binding intrinsic factor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cblif"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cd320"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "name": "cubilin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cubn"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lmbrd1"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mmab"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mmadhc"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mtr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}