{
  "url": "https://dantelabs.com/fr/genes/tbx2",
  "gene": {
    "slug": "tbx2",
    "symbol": "TBX2",
    "name": "T-box transcription factor 2",
    "hgnc": "HGNC:11597",
    "summary": null,
    "location": "17q23.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000121068",
    "entrezId": 6909,
    "omim": [
      "600747"
    ],
    "uniprot": [
      "Q13207"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 61399843,
      "end": 61409466,
      "strand": "+",
      "ensemblTranscript": "ENST00000240328.4",
      "refseqTranscript": "NM_005994.4",
      "ensemblProtein": "ENSP00000240328.3",
      "refseqProtein": "NP_005985.3",
      "exons": [
        {
          "start": 61399843,
          "end": 61400571
        },
        {
          "start": 61401684,
          "end": 61401951
        },
        {
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          "end": 61403207
        },
        {
          "start": 61404421,
          "end": 61404497
        },
        {
          "start": 61404606,
          "end": 61404769
        },
        {
          "start": 61405202,
          "end": 61405836
        },
        {
          "start": 61408054,
          "end": 61409466
        }
      ],
      "cds": {
        "start": 61400177,
        "end": 61408506
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 59477257,
      "end": 59486827,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 60904655,
      "end": 61904654,
      "genes": [
        {
          "symbol": "BCAS3",
          "ensemblId": "ENSG00000141376",
          "biotype": "protein_coding",
          "start": 60677453,
          "end": 61392838,
          "strand": "+",
          "slug": "bcas3"
        },
        {
          "symbol": "TBX4",
          "ensemblId": "ENSG00000121075",
          "biotype": "protein_coding",
          "start": 61451906,
          "end": 61485110,
          "strand": "+",
          "slug": "tbx4"
        },
        {
          "symbol": "NACA2",
          "ensemblId": "ENSG00000253506",
          "biotype": "protein_coding",
          "start": 61590421,
          "end": 61591219,
          "strand": "-",
          "slug": "naca2"
        },
        {
          "symbol": "BRIP1",
          "ensemblId": "ENSG00000136492",
          "biotype": "protein_coding",
          "start": 61679139,
          "end": 61863561,
          "strand": "-",
          "slug": "brip1"
        },
        {
          "symbol": "INTS2",
          "ensemblId": "ENSG00000108506",
          "biotype": "protein_coding",
          "start": 61865367,
          "end": 61928016,
          "strand": "-",
          "slug": "ints2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-b-cell-morphology",
        "name": "Abnormal B cell morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-b-cell-morphology"
      },
      {
        "slug": "aplasia-of-the-thymus",
        "name": "Absent thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-of-the-thymus"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "broad-nasal-tip",
        "name": "Broad nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-nasal-tip"
      },
      {
        "slug": "cleft-lip",
        "name": "Cleft lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-lip"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "contracture-of-the-proximal-interphalangeal-joint-of-the-3rd-finger",
        "name": "Contracture of the proximal interphalangeal joint of the 3rd finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/contracture-of-the-proximal-interphalangeal-joint-of-the-3rd-finger"
      },
      {
        "slug": "contracture-of-the-proximal-interphalangeal-joint-of-the-4th-finger",
        "name": "Contracture of the proximal interphalangeal joint of the 4th finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/contracture-of-the-proximal-interphalangeal-joint-of-the-4th-finger"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "hypoparathyroidism",
        "name": "Decreased parathyroid hormone secretion",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoparathyroidism"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "depressed-nasal-tip",
        "name": "Depressed nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-tip"
      },
      {
        "slug": "ectopia-pupillae",
        "name": "Displaced pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectopia-pupillae"
      },
      {
        "slug": "double-outlet-right-ventricle",
        "name": "Double outlet right ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/double-outlet-right-ventricle"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "glabellar-hemangioma",
        "name": "Glabellar hemangioma",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glabellar-hemangioma"
      },
      {
        "slug": "hashimoto-thyroiditis",
        "name": "Hashimoto thyroiditis",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hashimoto-thyroiditis"
      },
      {
        "slug": "sprengel-anomaly",
        "name": "High shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sprengel-anomaly"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "hemivertebrae",
        "name": "Missing part of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemivertebrae"
      },
      {
        "slug": "narrow-palate",
        "name": "Narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-palate"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "overfolded-helix",
        "name": "Overfolded ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/overfolded-helix"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/webbed-neck"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}