{
  "url": "https://dantelabs.com/ko/genes/nkx2-6",
  "gene": {
    "slug": "nkx2-6",
    "symbol": "NKX2-6",
    "name": "NK2 homeobox 6",
    "hgnc": "HGNC:32940",
    "summary": null,
    "location": "8p21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CSX2",
      "NKX4-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000180053",
    "entrezId": 137814,
    "omim": [
      "611770"
    ],
    "uniprot": [
      "A6NCS4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 23701740,
      "end": 23706756,
      "strand": "-",
      "ensemblTranscript": "ENST00000325017.4",
      "refseqTranscript": "NM_001136271.3",
      "ensemblProtein": "ENSP00000320089.3",
      "refseqProtein": "NP_001129743.2",
      "exons": [
        {
          "start": 23701740,
          "end": 23703082
        },
        {
          "start": 23706325,
          "end": 23706756
        }
      ],
      "cds": {
        "start": 23702451,
        "end": 23706598
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 23559964,
      "end": 23564111,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 23204248,
      "end": 24204247,
      "genes": [
        {
          "symbol": "TNFRSF10A",
          "ensemblId": "ENSG00000104689",
          "biotype": "protein_coding",
          "start": 23183123,
          "end": 23225145,
          "strand": "-",
          "slug": "tnfrsf10a"
        },
        {
          "symbol": "CHMP7",
          "ensemblId": "ENSG00000147457",
          "biotype": "protein_coding",
          "start": 23243630,
          "end": 23266156,
          "strand": "+",
          "slug": "chmp7"
        },
        {
          "symbol": "R3HCC1",
          "ensemblId": "ENSG00000104679",
          "biotype": "protein_coding",
          "start": 23270120,
          "end": 23296279,
          "strand": "+",
          "slug": "r3hcc1"
        },
        {
          "symbol": "LOXL2",
          "ensemblId": "ENSG00000134013",
          "biotype": "protein_coding",
          "start": 23296897,
          "end": 23425328,
          "strand": "-",
          "slug": "loxl2"
        },
        {
          "symbol": "ENTPD4",
          "ensemblId": "ENSG00000197217",
          "biotype": "protein_coding",
          "start": 23385783,
          "end": 23457722,
          "strand": "-",
          "slug": "entpd4"
        },
        {
          "symbol": "SLC25A37",
          "ensemblId": "ENSG00000147454",
          "biotype": "protein_coding",
          "start": 23528859,
          "end": 23654350,
          "strand": "+",
          "slug": "slc25a37"
        },
        {
          "symbol": "NKX3-1",
          "ensemblId": "ENSG00000167034",
          "biotype": "protein_coding",
          "start": 23678697,
          "end": 23682953,
          "strand": "-",
          "slug": "nkx3-1"
        },
        {
          "symbol": "STC1",
          "ensemblId": "ENSG00000159167",
          "biotype": "protein_coding",
          "start": 23841929,
          "end": 23854815,
          "strand": "-",
          "slug": "stc1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-nasal-morphology",
        "name": "Abnormal of nasal shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-nasal-morphology"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "broad-hallux",
        "name": "Broad big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-hallux"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "complete-atrioventricular-canal-defect",
        "name": "Complete atrioventricular canal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/complete-atrioventricular-canal-defect"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "double-outlet-right-ventricle",
        "name": "Double outlet right ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/double-outlet-right-ventricle"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "underdeveloped-supraorbital-ridges",
        "name": "Flattened bony protrusion above eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "preauricular-pit",
        "name": "Pit in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preauricular-pit"
      },
      {
        "slug": "postaxial-polydactyly",
        "name": "Postaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/postaxial-polydactyly"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "thromboembolism",
        "name": "Thromboembolism",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolism"
      },
      {
        "slug": "transposition-of-the-great-arteries",
        "name": "Transposition of the great arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/transposition-of-the-great-arteries"
      },
      {
        "slug": "truncus-arteriosus",
        "name": "Truncus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/truncus-arteriosus"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}