{
  "url": "https://dantelabs.com/da/genes/cd3e",
  "gene": {
    "slug": "cd3e",
    "symbol": "CD3E",
    "name": "CD3 epsilon subunit of T-cell receptor complex",
    "hgnc": "HGNC:1674",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CD3epsilon",
      "CD3-epsilon"
    ],
    "previousSymbols": [],
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      "186830"
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    "uniprot": [
      "P07766"
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      "release": "v1.5",
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      "end": 118316173,
      "strand": "+",
      "ensemblTranscript": "ENST00000361763.9",
      "refseqTranscript": "NM_000733.4",
      "ensemblProtein": "ENSP00000354566.4",
      "refseqProtein": "NP_000724.1",
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        {
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      ],
      "cds": {
        "start": 118304953,
        "end": 118315542
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 118175260,
      "end": 118186890,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 117810452,
      "end": 118810451,
      "genes": [
        {
          "symbol": "DSCAML1",
          "ensemblId": "ENSG00000177103",
          "biotype": "protein_coding",
          "start": 117427772,
          "end": 117817525,
          "strand": "-",
          "slug": "dscaml1"
        },
        {
          "symbol": "FXYD2",
          "ensemblId": "ENSG00000137731",
          "biotype": "protein_coding",
          "start": 117800839,
          "end": 117828734,
          "strand": "-",
          "slug": "fxyd2"
        },
        {
          "symbol": "FXYD6-FXYD2",
          "ensemblId": "ENSG00000255245",
          "biotype": "protein_coding",
          "start": 117820163,
          "end": 117876667,
          "strand": "-",
          "slug": "fxyd6-fxyd2"
        },
        {
          "symbol": "FXYD6",
          "ensemblId": "ENSG00000137726",
          "biotype": "protein_coding",
          "start": 117833023,
          "end": 117877675,
          "strand": "-",
          "slug": "fxyd6"
        },
        {
          "symbol": "TMPRSS13",
          "ensemblId": "ENSG00000137747",
          "biotype": "protein_coding",
          "start": 117900641,
          "end": 117929459,
          "strand": "-",
          "slug": "tmprss13"
        },
        {
          "symbol": "IL10RA",
          "ensemblId": "ENSG00000110324",
          "biotype": "protein_coding",
          "start": 117986370,
          "end": 118003037,
          "strand": "+",
          "slug": "il10ra"
        },
        {
          "symbol": "SMIM35",
          "ensemblId": "ENSG00000255274",
          "biotype": "protein_coding",
          "start": 118003634,
          "end": 118088299,
          "strand": "-",
          "slug": "smim35"
        },
        {
          "symbol": "TMPRSS4",
          "ensemblId": "ENSG00000137648",
          "biotype": "protein_coding",
          "start": 118076986,
          "end": 118125510,
          "strand": "+",
          "slug": "tmprss4"
        },
        {
          "symbol": "SCN4B",
          "ensemblId": "ENSG00000177098",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "scn4b"
        },
        {
          "symbol": "SCN2B",
          "ensemblId": "ENSG00000149575",
          "biotype": "protein_coding",
          "start": 118162806,
          "end": 118176653,
          "strand": "-",
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        },
        {
          "symbol": "JAML",
          "ensemblId": "ENSG00000160593",
          "biotype": "protein_coding",
          "start": 118193725,
          "end": 118226323,
          "strand": "-",
          "slug": "jaml"
        },
        {
          "symbol": "MPZL3",
          "ensemblId": "ENSG00000160588",
          "biotype": "protein_coding",
          "start": 118226690,
          "end": 118252375,
          "strand": "-",
          "slug": "mpzl3"
        },
        {
          "symbol": "MPZL2",
          "ensemblId": "ENSG00000149573",
          "biotype": "protein_coding",
          "start": 118253416,
          "end": 118264536,
          "strand": "-",
          "slug": "mpzl2"
        },
        {
          "symbol": "CD3D",
          "ensemblId": "ENSG00000167286",
          "biotype": "protein_coding",
          "start": 118334537,
          "end": 118342713,
          "strand": "-",
          "slug": "cd3d"
        },
        {
          "symbol": "CD3G",
          "ensemblId": "ENSG00000160654",
          "biotype": "protein_coding",
          "start": 118344338,
          "end": 118355161,
          "strand": "+",
          "slug": "cd3g"
        },
        {
          "symbol": "UBE4A",
          "ensemblId": "ENSG00000110344",
          "biotype": "protein_coding",
          "start": 118359578,
          "end": 118399211,
          "strand": "+",
          "slug": "ube4a"
        },
        {
          "symbol": "ATP5MG",
          "ensemblId": "ENSG00000167283",
          "biotype": "protein_coding",
          "start": 118401345,
          "end": 118433278,
          "strand": "+",
          "slug": "atp5mg"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285827",
          "biotype": "protein_coding",
          "start": 118401602,
          "end": 118482737,
          "strand": "+"
        },
        {
          "symbol": "KMT2A",
          "ensemblId": "ENSG00000118058",
          "biotype": "protein_coding",
          "start": 118436456,
          "end": 118526832,
          "strand": "+",
          "slug": "kmt2a"
        },
        {
          "symbol": "TTC36",
          "ensemblId": "ENSG00000172425",
          "biotype": "protein_coding",
          "start": 118527314,
          "end": 118531197,
          "strand": "+",
          "slug": "ttc36"
        },
        {
          "symbol": "TMEM25",
          "ensemblId": "ENSG00000149582",
          "biotype": "protein_coding",
          "start": 118530636,
          "end": 118548273,
          "strand": "+",
          "slug": "tmem25"
        },
        {
          "symbol": "IFT46",
          "ensemblId": "ENSG00000118096",
          "biotype": "protein_coding",
          "start": 118544381,
          "end": 118572970,
          "strand": "-",
          "slug": "ift46"
        },
        {
          "symbol": "ARCN1",
          "ensemblId": "ENSG00000095139",
          "biotype": "protein_coding",
          "start": 118572384,
          "end": 118603033,
          "strand": "+",
          "slug": "arcn1"
        },
        {
          "symbol": "PHLDB1",
          "ensemblId": "ENSG00000019144",
          "biotype": "protein_coding",
          "start": 118606396,
          "end": 118658038,
          "strand": "+",
          "slug": "phldb1"
        },
        {
          "symbol": "TREH",
          "ensemblId": "ENSG00000118094",
          "biotype": "protein_coding",
          "start": 118657265,
          "end": 118679694,
          "strand": "-",
          "slug": "treh"
        },
        {
          "symbol": "DDX6",
          "ensemblId": "ENSG00000110367",
          "biotype": "protein_coding",
          "start": 118747763,
          "end": 118791226,
          "strand": "-",
          "slug": "ddx6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Svær kombineret immundefekt",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Svær kombineret immundefekt",
            "genes": 31,
            "inheritance": "autosomal-recessive",
            "description": "Svær kombineret immundefekt (SCID) omfatter en gruppe sjældne monogene primære immundefekt-lidelser, karakteriseret ved mangel på funktionelle perifere T-lymfocytter, hvilket resulterer i tidligt opståede, svære luftvejsinfektioner og manglende vækst. De klassificeres efter immunologisk fænotype i SCID med fravær af T-celler, men tilstedeværelse af B-celler (T-B+ SCID), eller SCID med fravær af både T- og B-celler (T-B- SCID). Begge grupper omfatter flere former, med eller uden naturlige killerceller (NK-celler).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/severe-combined-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Andre medfødte immunsvigt",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunsvigtsygdom",
            "genes": 170,
            "inheritance": null,
            "description": "Sygdom, hvor der er mangel på eller defekt i immunforsvarets mekanismer, enten cellulære eller humorale.",
            "management": "HSCT ved SCID og alvorlige PID'er; immunglobulinbehandling (IVIG/SCIG) ved antistofmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4-/LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/da/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-lymphocyte-count",
        "name": "Abnormal lymphocyte count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-lymphocyte-count"
      },
      {
        "slug": "abnormal-t-cell-proliferation",
        "name": "Abnormal T cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-t-cell-proliferation"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "chronic-decreased-circulating-iga-concentration",
        "name": "Chronic 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": "obligate",
        "url": "https://dantelabs.com/traits/chronic-decreased-circulating-iga-concentration"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "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": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-mitogen-induced-t-cell-proliferation",
        "name": "Decreased mitogen-induced T-cell proliferation",
        "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-mitogen-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "failure-to-thrive-secondary-to-recurrent-infections",
        "name": "Faltering weight secondary to recurrent infections",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-secondary-to-recurrent-infections"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "increased-circulating-immunoglobulin-concentration",
        "name": "Increased antibody level in blood",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "otitis-media",
        "name": "Middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/otitis-media"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "protracted-diarrhea",
        "name": "Protracted diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protracted-diarrhea"
      },
      {
        "slug": "recurrent-abscess-formation",
        "name": "Recurrent abscess formation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-abscess-formation"
      },
      {
        "slug": "recurrent-candida-infection",
        "name": "Recurrent Candida infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-candida-infection"
      },
      {
        "slug": "recurrent-gastroenteritis",
        "name": "Recurrent gastroenteritis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-gastroenteritis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "recurrent-herpes",
        "name": "Susceptibility to herpesvirus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-herpes"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/ada"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/ak2"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/bcl11b"
      },
      {
        "slug": "card11",
        "symbol": "CARD11",
        "name": "caspase recruitment domain family member 11",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/card11"
      },
      {
        "slug": "carmil2",
        "symbol": "CARMIL2",
        "name": "capping protein regulator and myosin 1 linker 2",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/carmil2"
      },
      {
        "slug": "cd247",
        "symbol": "CD247",
        "name": "CD247 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/cd247"
      },
      {
        "slug": "cd3d",
        "symbol": "CD3D",
        "name": "CD3 delta subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/cd3d"
      },
      {
        "slug": "cd70",
        "symbol": "CD70",
        "name": "CD70 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/cd70"
      },
      {
        "slug": "ciita",
        "symbol": "CIITA",
        "name": "class II major histocompatibility complex transactivator",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/ciita"
      },
      {
        "slug": "coro1a",
        "symbol": "CORO1A",
        "name": "coronin 1A",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/coro1a"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "name": "DNA cross-link repair 1C",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/dclre1c"
      },
      {
        "slug": "foxn1",
        "symbol": "FOXN1",
        "name": "forkhead box N1",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/foxn1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}