{
  "url": "https://dantelabs.com/tr/genes/eda2r",
  "gene": {
    "slug": "eda2r",
    "symbol": "EDA2R",
    "name": "ectodysplasin A2 receptor",
    "hgnc": "HGNC:17756",
    "summary": null,
    "location": "Xq12",
    "locusType": "gene with protein product",
    "aliases": [
      "XEDAR",
      "EDA-A2R",
      "EDAA2R",
      "TNFRSF27"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000131080",
    "entrezId": 60401,
    "omim": [
      "300276"
    ],
    "uniprot": [
      "Q9HAV5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 66595637,
      "end": 66639078,
      "strand": "-",
      "ensemblTranscript": "ENST00000374719.8",
      "refseqTranscript": "NM_021783.5",
      "ensemblProtein": "ENSP00000363851.3",
      "refseqProtein": "NP_068555.2",
      "exons": [
        {
          "start": 66595637,
          "end": 66598093
        },
        {
          "start": 66599474,
          "end": 66599860
        },
        {
          "start": 66602633,
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        },
        {
          "start": 66604421,
          "end": 66604506
        },
        {
          "start": 66605048,
          "end": 66605226
        },
        {
          "start": 66615934,
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        },
        {
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          "end": 66639078
        }
      ],
      "cds": {
        "start": 66599484,
        "end": 66616020
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 65815479,
      "end": 65859108,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 66117358,
      "end": 67117357,
      "genes": [
        {
          "symbol": "HEPH",
          "ensemblId": "ENSG00000089472",
          "biotype": "protein_coding",
          "start": 66162483,
          "end": 66268910,
          "strand": "+",
          "slug": "heph"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anterior-hypopituitarism",
        "name": "Anterior hypopituitarism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-hypopituitarism"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "everted-upper-lip-vermilion",
        "name": "Drooping upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/everted-upper-lip-vermilion"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}