{
  "url": "https://dantelabs.com/fr/genes/nsmce3",
  "gene": {
    "slug": "nsmce3",
    "symbol": "NSMCE3",
    "name": "NSE3 component of SMC5/6 complex",
    "hgnc": "HGNC:7677",
    "summary": null,
    "location": "15q13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "HCA4",
      "MAGEG1",
      "MAGEL3",
      "NSE3"
    ],
    "previousSymbols": [
      "NDNL2"
    ],
    "ensemblId": "ENSG00000185115",
    "entrezId": 56160,
    "omim": [
      "608243"
    ],
    "uniprot": [
      "Q96MG7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 29264989,
      "end": 29269822,
      "strand": "-",
      "ensemblTranscript": "ENST00000332303.6",
      "refseqTranscript": "NM_138704.4",
      "ensemblProtein": "ENSP00000330694.4",
      "refseqProtein": "NP_619649.1",
      "exons": [
        {
          "start": 29264989,
          "end": 29269822
        }
      ],
      "cds": {
        "start": 29268791,
        "end": 29269705
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 29560353,
      "end": 29562033,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 28767406,
      "end": 29767405,
      "genes": [
        {
          "symbol": "GOLGA6L7",
          "ensemblId": "ENSG00000261649",
          "biotype": "protein_coding",
          "start": 28841832,
          "end": 28848675,
          "strand": "-",
          "slug": "golga6l7"
        },
        {
          "symbol": "APBA2",
          "ensemblId": "ENSG00000034053",
          "biotype": "protein_coding",
          "start": 28884449,
          "end": 29118317,
          "strand": "+",
          "slug": "apba2"
        },
        {
          "symbol": "ENTREP2",
          "ensemblId": "ENSG00000104059",
          "biotype": "protein_coding",
          "start": 29117713,
          "end": 29571432,
          "strand": "-",
          "slug": "entrep2"
        },
        {
          "symbol": "TJP1",
          "ensemblId": "ENSG00000104067",
          "biotype": "protein_coding",
          "start": 29699167,
          "end": 29969078,
          "strand": "-",
          "slug": "tjp1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "bronchiolitis-obliterans",
        "name": "Bronchiolitis obliterans",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiolitis-obliterans"
      },
      {
        "slug": "decreased-antigen-specific-t-cell-proliferation",
        "name": "Decreased antigen-specific T cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-antigen-specific-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "decreased-total-cd8-t-cell-proportion",
        "name": "Decreased total CD8+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd8-t-cell-proportion"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "increased-sensitivity-to-ionizing-radiation",
        "name": "Increased sensitivity to ionizing radiation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-sensitivity-to-ionizing-radiation"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "reduced-delayed-hypersensitivity",
        "name": "Reduced delayed hypersensitivity",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-delayed-hypersensitivity"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "hypoplasia-of-the-thymus",
        "name": "Small thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-thymus"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}