{
  "url": "https://dantelabs.com/fr/genes/tnfrsf9",
  "gene": {
    "slug": "tnfrsf9",
    "symbol": "TNFRSF9",
    "name": "TNF receptor superfamily member 9",
    "hgnc": "HGNC:11924",
    "summary": null,
    "location": "1p36.23",
    "locusType": "gene with protein product",
    "aliases": [
      "CD137",
      "4-1BB"
    ],
    "previousSymbols": [
      "ILA"
    ],
    "ensemblId": "ENSG00000049249",
    "entrezId": 3604,
    "omim": [
      "602250"
    ],
    "uniprot": [
      "Q07011"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 7915871,
      "end": 7940839,
      "strand": "-",
      "ensemblTranscript": "ENST00000377507.8",
      "refseqTranscript": "NM_001561.6",
      "ensemblProtein": "ENSP00000366729.3",
      "refseqProtein": "NP_001552.2",
      "exons": [
        {
          "start": 7915871,
          "end": 7920923
        },
        {
          "start": 7933162,
          "end": 7933296
        },
        {
          "start": 7935013,
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        },
        {
          "start": 7937690,
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        },
        {
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        },
        {
          "start": 7938721,
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        },
        {
          "start": 7939895,
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        },
        {
          "start": 7940784,
          "end": 7940839
        }
      ],
      "cds": {
        "start": 7920835,
        "end": 7939994
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 7979907,
      "end": 8000926,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 7428355,
      "end": 8428354,
      "genes": [
        {
          "symbol": "CAMTA1",
          "ensemblId": "ENSG00000171735",
          "biotype": "protein_coding",
          "start": 6785432,
          "end": 7769706,
          "strand": "+",
          "slug": "camta1"
        },
        {
          "symbol": "VAMP3",
          "ensemblId": "ENSG00000049245",
          "biotype": "protein_coding",
          "start": 7771264,
          "end": 7781447,
          "strand": "+",
          "slug": "vamp3"
        },
        {
          "symbol": "PER3",
          "ensemblId": "ENSG00000049246",
          "biotype": "protein_coding",
          "start": 7784183,
          "end": 7845181,
          "strand": "+",
          "slug": "per3"
        },
        {
          "symbol": "UTS2",
          "ensemblId": "ENSG00000049247",
          "biotype": "protein_coding",
          "start": 7843008,
          "end": 7853512,
          "strand": "-",
          "slug": "uts2"
        },
        {
          "symbol": "PARK7",
          "ensemblId": "ENSG00000116288",
          "biotype": "protein_coding",
          "start": 7952654,
          "end": 7985991,
          "strand": "+",
          "slug": "park7"
        },
        {
          "symbol": "ERRFI1",
          "ensemblId": "ENSG00000116285",
          "biotype": "protein_coding",
          "start": 8003196,
          "end": 8026318,
          "strand": "-",
          "slug": "errfi1"
        },
        {
          "symbol": "SLC45A1",
          "ensemblId": "ENSG00000162426",
          "biotype": "protein_coding",
          "start": 8318081,
          "end": 8344296,
          "strand": "+",
          "slug": "slc45a1"
        },
        {
          "symbol": "RERE",
          "ensemblId": "ENSG00000142599",
          "biotype": "protein_coding",
          "start": 8352397,
          "end": 8848921,
          "strand": "-",
          "slug": "rere"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Autres erreurs innées de l'immunité",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Déficit immunitaire",
            "genes": 170,
            "inheritance": null,
            "description": "Maladie caractérisée par une déficience ou une anomalie des mécanismes de l'immunité, qu'elle soit cellulaire ou humorale.",
            "management": "HSCT pour le SCID et les DIP sévères ; traitement substitutif par immunoglobulines (IVIG/SCIG) pour les déficits en anticorps ; leniolisib (Joenja, FDA 2023) pour l'APDS ; thérapie génique pour l'ADA-SCID ; abatacept pour le déficit en CTLA4/LRBA ; antibioprophylaxie ; G-CSF pour la CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-circulating-b-cells",
        "name": "Absent circulating B cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-circulating-b-cells"
      },
      {
        "slug": "complete-or-near-complete-absence-of-specific-antibody-response-to-tetanus-vaccine",
        "name": "Complete or near-complete absence of specific antibody response to tetanus vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/complete-or-near-complete-absence-of-specific-antibody-response-to-tetanus-vaccine"
      },
      {
        "slug": "decreased-anti-cd3-28-induced-t-cell-proliferation",
        "name": "Decreased anti-CD3/28-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": "obligate",
        "url": "https://dantelabs.com/traits/decreased-anti-cd3-28-induced-t-cell-proliferation"
      },
      {
        "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-specific-pneumococcal-antibody-concentration",
        "name": "Decreased circulating specific pneumococcal antibody concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-specific-pneumococcal-antibody-concentration"
      },
      {
        "slug": "generalized-lymphadenopathy",
        "name": "Generalized swelling of lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-lymphadenopathy"
      },
      {
        "slug": "hodgkin-lymphoma",
        "name": "Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hodgkin-lymphoma"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "persistent-ebv-viremia",
        "name": "Persistent EBV viremia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-ebv-viremia"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}