{
  "url": "https://dantelabs.com/tr/genes/tab2",
  "gene": {
    "slug": "tab2",
    "symbol": "TAB2",
    "name": "TGF-beta activated kinase 1 (MAP3K7) binding protein 2",
    "hgnc": "HGNC:17075",
    "summary": null,
    "location": "6q25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA0733"
    ],
    "previousSymbols": [
      "MAP3K7IP2"
    ],
    "ensemblId": "ENSG00000055208",
    "entrezId": 23118,
    "omim": [
      "605101"
    ],
    "uniprot": [
      "Q9NYJ8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 149317712,
      "end": 149411607,
      "strand": "+",
      "ensemblTranscript": "ENST00000637181.2",
      "refseqTranscript": "NM_001292034.3",
      "ensemblProtein": "ENSP00000490618.1",
      "refseqProtein": "NP_001278963.1",
      "exons": [
        {
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          "end": 149318015
        },
        {
          "start": 149369909,
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        },
        {
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        {
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        },
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        },
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        }
      ],
      "cds": {
        "start": 149369998,
        "end": 149409719
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 149539777,
      "end": 149732749,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 148864660,
      "end": 149864659,
      "genes": [
        {
          "symbol": "UST",
          "ensemblId": "ENSG00000111962",
          "biotype": "protein_coding",
          "start": 148746895,
          "end": 149078419,
          "strand": "+",
          "slug": "ust"
        },
        {
          "symbol": "SUMO4",
          "ensemblId": "ENSG00000177688",
          "biotype": "protein_coding",
          "start": 149400262,
          "end": 149401278,
          "strand": "+",
          "slug": "sumo4"
        },
        {
          "symbol": "ZC3H12D",
          "ensemblId": "ENSG00000178199",
          "biotype": "protein_coding",
          "start": 149446795,
          "end": 149485036,
          "strand": "-",
          "slug": "zc3h12d"
        },
        {
          "symbol": "PPIL4",
          "ensemblId": "ENSG00000131013",
          "biotype": "protein_coding",
          "start": 149501435,
          "end": 149546111,
          "strand": "-",
          "slug": "ppil4"
        },
        {
          "symbol": "GINM1",
          "ensemblId": "ENSG00000055211",
          "biotype": "protein_coding",
          "start": 149566190,
          "end": 149591751,
          "strand": "+",
          "slug": "ginm1"
        },
        {
          "symbol": "KATNA1",
          "ensemblId": "ENSG00000186625",
          "biotype": "protein_coding",
          "start": 149594873,
          "end": 149648972,
          "strand": "-",
          "slug": "katna1"
        },
        {
          "symbol": "LATS1",
          "ensemblId": "ENSG00000131023",
          "biotype": "protein_coding",
          "start": 149658153,
          "end": 149718261,
          "strand": "-",
          "slug": "lats1"
        },
        {
          "symbol": "NUP43",
          "ensemblId": "ENSG00000120253",
          "biotype": "protein_coding",
          "start": 149723373,
          "end": 149750286,
          "strand": "-",
          "slug": "nup43"
        },
        {
          "symbol": "PCMT1",
          "ensemblId": "ENSG00000120265",
          "biotype": "protein_coding",
          "start": 149749197,
          "end": 149811422,
          "strand": "+",
          "slug": "pcmt1"
        },
        {
          "symbol": "LRP11",
          "ensemblId": "ENSG00000120256",
          "biotype": "protein_coding",
          "start": 149793455,
          "end": 149864424,
          "strand": "-",
          "slug": "lrp11"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285991",
          "biotype": "protein_coding",
          "start": 149817937,
          "end": 149896011,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-congenital-heart-defects",
        "name": "Kalıtsal Doğuştan Kalp Hastalıkları",
        "diseases": [
          {
            "mondoId": "MONDO:0014000",
            "name": "TAB2 İlişkili Konjenital Kalp Hastalığı",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "TAB2 genindeki değişikliklerden kaynaklanan, değişken kapak hastalığı, eklem hipermobilitesi, düşük kas tonusu ve işitme kaybı ile seyreden konjenital kalp hastalığı.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/inherited-congenital-heart-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "left-ventricular-outflow-tract-obstruction",
        "name": "Left ventricular outflow tract obstruction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-outflow-tract-obstruction"
      },
      {
        "slug": "myxomatous-mitral-valve-degeneration",
        "name": "Myxomatous mitral valve degeneration",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/myxomatous-mitral-valve-degeneration"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "subvalvular-aortic-stenosis",
        "name": "Narrowing of blood vessel below aortic heart valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subvalvular-aortic-stenosis"
      },
      {
        "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": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}