{
  "url": "https://dantelabs.com/pt/genes/axin2",
  "gene": {
    "slug": "axin2",
    "symbol": "AXIN2",
    "name": "axin 2",
    "hgnc": "HGNC:904",
    "summary": null,
    "location": "17q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC126582",
      "DKFZp781B0869"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000168646",
    "entrezId": 8313,
    "omim": [
      "604025"
    ],
    "uniprot": [
      "Q9Y2T1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 65528563,
      "end": 65561648,
      "strand": "-",
      "ensemblTranscript": "ENST00000307078.10",
      "refseqTranscript": "NM_004655.4",
      "ensemblProtein": "ENSP00000302625.5",
      "refseqProtein": "NP_004646.3",
      "exons": [
        {
          "start": 65528563,
          "end": 65530102
        },
        {
          "start": 65533912,
          "end": 65534079
        },
        {
          "start": 65535626,
          "end": 65535721
        },
        {
          "start": 65536320,
          "end": 65536553
        },
        {
          "start": 65536869,
          "end": 65537063
        },
        {
          "start": 65537324,
          "end": 65537835
        },
        {
          "start": 65538203,
          "end": 65538343
        },
        {
          "start": 65541455,
          "end": 65541557
        },
        {
          "start": 65549520,
          "end": 65549660
        },
        {
          "start": 65557806,
          "end": 65558736
        },
        {
          "start": 65561450,
          "end": 65561648
        }
      ],
      "cds": {
        "start": 65529976,
        "end": 65558620
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 63524681,
      "end": 63557765,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 65045106,
      "end": 66045105,
      "genes": [
        {
          "symbol": "GNA13",
          "ensemblId": "ENSG00000120063",
          "biotype": "protein_coding",
          "start": 65009289,
          "end": 65056839,
          "strand": "-",
          "slug": "gna13"
        },
        {
          "symbol": "RGS9",
          "ensemblId": "ENSG00000108370",
          "biotype": "protein_coding",
          "start": 65100812,
          "end": 65227703,
          "strand": "+",
          "slug": "rgs9"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000266076",
          "biotype": "protein_coding",
          "start": 65538102,
          "end": 65641033,
          "strand": "-"
        },
        {
          "symbol": "CEP112",
          "ensemblId": "ENSG00000154240",
          "biotype": "protein_coding",
          "start": 65635537,
          "end": 66192251,
          "strand": "-",
          "slug": "cep112"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "colorectal-cancer-polyposis",
        "name": "Cancro Colorretal e Polipose",
        "diseases": [
          {
            "mondoId": "MONDO:0012075",
            "name": "Síndrome de oligodontia e cancro colorretal",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Variantes no gene AXIN2 que causam a ausência de dentes permanentes (oligodontia), em conjunto com pólipos colorretais e um risco aumentado de cancro colorretal.",
            "management": "Vigilância por colonoscopia e cuidados dentários; os familiares podem ser convidados a fazer o teste.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/colorectal-cancer-polyposis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-odontoid-tissue-morphology",
        "name": "Abnormal odontoid tissue morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-odontoid-tissue-morphology"
      },
      {
        "slug": "absent-eyebrow",
        "name": "Absent eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-eyebrow"
      },
      {
        "slug": "adenomatous-colonic-polyposis",
        "name": "Adenomatous colonic polyposis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adenomatous-colonic-polyposis"
      },
      {
        "slug": "breast-carcinoma",
        "name": "Breast cancer",
        "systems": [
          "abnormality-of-the-breast",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/breast-carcinoma"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "colon-cancer",
        "name": "Colon cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colon-cancer"
      },
      {
        "slug": "colorectal-polyposis",
        "name": "Colorectal polyposis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/colorectal-polyposis"
      },
      {
        "slug": "ectodermal-dysplasia",
        "name": "Ectodermal dysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ectodermal-dysplasia"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "fundic-gland-polyposis",
        "name": "Fundic gland polyposis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fundic-gland-polyposis"
      },
      {
        "slug": "hereditary-nonpolyposis-colorectal-carcinoma",
        "name": "Hereditary nonpolyposis colorectal carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/hereditary-nonpolyposis-colorectal-carcinoma"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "neoplasm-of-the-rectum",
        "name": "Rectal tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-rectum"
      },
      {
        "slug": "short-eyelashes",
        "name": "Short eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-eyelashes"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "neoplasm-of-the-stomach",
        "name": "Stomach tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/neoplasm-of-the-stomach"
      },
      {
        "slug": "transitional-cell-carcinoma-of-the-bladder",
        "name": "Transitional cell carcinoma of the bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/transitional-cell-carcinoma-of-the-bladder"
      },
      {
        "slug": "uterine-leiomyosarcoma",
        "name": "Uterine leiomyosarcoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/uterine-leiomyosarcoma"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}