{
  "url": "https://dantelabs.com/es/genes/nkx2-2",
  "gene": {
    "slug": "nkx2-2",
    "symbol": "NKX2-2",
    "name": "NK2 homeobox 2",
    "hgnc": "HGNC:7835",
    "summary": null,
    "location": "20p11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "NKX2.2"
    ],
    "previousSymbols": [
      "NKX2B"
    ],
    "ensemblId": "ENSG00000125820",
    "entrezId": 4821,
    "omim": [
      "604612"
    ],
    "uniprot": [
      "O95096"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 21511017,
      "end": 21514064,
      "strand": "-",
      "ensemblTranscript": "ENST00000377142.5",
      "refseqTranscript": "NM_002509.4",
      "ensemblProtein": "ENSP00000366347.4",
      "refseqProtein": "NP_002500.1",
      "exons": [
        {
          "start": 21511017,
          "end": 21512485
        },
        {
          "start": 21513411,
          "end": 21514064
        }
      ],
      "cds": {
        "start": 21511923,
        "end": 21513669
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 21491648,
      "end": 21494664,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 21012541,
      "end": 22012540,
      "genes": [
        {
          "symbol": "KIZ",
          "ensemblId": "ENSG00000088970",
          "biotype": "protein_coding",
          "start": 21125975,
          "end": 21273506,
          "strand": "+",
          "slug": "kiz"
        },
        {
          "symbol": "XRN2",
          "ensemblId": "ENSG00000088930",
          "biotype": "protein_coding",
          "start": 21303281,
          "end": 21390251,
          "strand": "+",
          "slug": "xrn2"
        },
        {
          "symbol": "NKX2-4",
          "ensemblId": "ENSG00000125816",
          "biotype": "protein_coding",
          "start": 21395152,
          "end": 21397526,
          "strand": "-",
          "slug": "nkx2-4"
        },
        {
          "symbol": "PAX1",
          "ensemblId": "ENSG00000125813",
          "biotype": "protein_coding",
          "start": 21705659,
          "end": 21718481,
          "strand": "+",
          "slug": "pax1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "Trastorno metabólico caracterizado por niveles anormalmente altos de glucosa en sangre debido a una menor producción de insulina o a resistencia/desensibilización a la misma.",
            "management": "Teplizumab (Tzield) para la DM1 presintomática en estadio 2 (aprobado por la FDA en 2022); reposición de insulina al inicio clínico de la DM1; cribado de autoanticuerpos de TrialNet para familiares de alto riesgo; sistemas de infusión de insulina en asa cerrada",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/diabetes-mellitus"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Diabetes mellitus neonatal",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Diabetes mellitus neonatal",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes diagnosticada en los primeros meses de vida, permanente o transitoria, causada por defectos en un solo gen que afectan a la producción o secreción de insulina.",
            "management": "La mayoría de las personas con diabetes neonatal por KCNJ11 o ABCC8 pueden pasar de las inyecciones de insulina a comprimidos de sulfonilureas, lo que a menudo permite un mejor control de la glucosa.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/neonatal-diabetes-mellitus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [],
    "related": [
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/abcc8"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/bscl2"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/eif2b1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/gata4"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "name": "GATA binding protein 6",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/gata6"
      },
      {
        "slug": "gck",
        "symbol": "GCK",
        "name": "glucokinase",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/gck"
      },
      {
        "slug": "glis3",
        "symbol": "GLIS3",
        "name": "GLIS family zinc finger 3",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/glis3"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/hnf1b"
      },
      {
        "slug": "il2ra",
        "symbol": "IL2RA",
        "name": "interleukin 2 receptor subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/il2ra"
      },
      {
        "slug": "ins",
        "symbol": "INS",
        "name": "insulin",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/ins"
      },
      {
        "slug": "kcnj11",
        "symbol": "KCNJ11",
        "name": "potassium inwardly rectifying channel subfamily J member 11",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/kcnj11"
      },
      {
        "slug": "mnx1",
        "symbol": "MNX1",
        "name": "motor neuron and pancreas homeobox 1",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/mnx1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}