{
  "url": "https://dantelabs.com/fr/genes/csf2ra",
  "gene": {
    "slug": "csf2ra",
    "symbol": "CSF2RA",
    "name": "colony stimulating factor 2 receptor subunit alpha",
    "hgnc": "HGNC:2435",
    "summary": null,
    "location": "Xp22.32 and Yp11.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CD116",
      "alphaGMR"
    ],
    "previousSymbols": [
      "CSF2R"
    ],
    "ensemblId": "ENSG00000198223",
    "entrezId": 1438,
    "omim": [
      "306250",
      "425000"
    ],
    "uniprot": [
      "P15509"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 1268814,
      "end": 1309935,
      "strand": "+",
      "ensemblTranscript": "ENST00000381529.9",
      "refseqTranscript": "NM_172245.4",
      "ensemblProtein": "ENSP00000370940.3",
      "refseqProtein": "NP_758448.1",
      "exons": [
        {
          "start": 1268814,
          "end": 1268879
        },
        {
          "start": 1274755,
          "end": 1274818
        },
        {
          "start": 1282678,
          "end": 1282779
        },
        {
          "start": 1285778,
          "end": 1285920
        },
        {
          "start": 1288519,
          "end": 1288642
        },
        {
          "start": 1288759,
          "end": 1288888
        },
        {
          "start": 1290337,
          "end": 1290509
        },
        {
          "start": 1294328,
          "end": 1294461
        },
        {
          "start": 1295427,
          "end": 1295456
        },
        {
          "start": 1300491,
          "end": 1300626
        },
        {
          "start": 1303923,
          "end": 1304019
        },
        {
          "start": 1305446,
          "end": 1305527
        },
        {
          "start": 1309402,
          "end": 1309935
        }
      ],
      "cds": {
        "start": 1282704,
        "end": 1309479
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 1387693,
      "end": 1429274,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 789375,
      "end": 1789374,
      "genes": [
        {
          "symbol": "CRLF2",
          "ensemblId": "ENSG00000205755",
          "biotype": "protein_coding",
          "start": 1190490,
          "end": 1212723,
          "strand": "-",
          "slug": "crlf2"
        },
        {
          "symbol": "IL3RA",
          "ensemblId": "ENSG00000185291",
          "biotype": "protein_coding",
          "start": 1335025,
          "end": 1382689,
          "strand": "+",
          "slug": "il3ra"
        },
        {
          "symbol": "SLC25A6",
          "ensemblId": "ENSG00000169100",
          "biotype": "protein_coding",
          "start": 1350030,
          "end": 1392929,
          "strand": "-",
          "slug": "slc25a6"
        },
        {
          "symbol": "ASMTL",
          "ensemblId": "ENSG00000169093",
          "biotype": "protein_coding",
          "start": 1403126,
          "end": 1453786,
          "strand": "-",
          "slug": "asmtl"
        },
        {
          "symbol": "P2RY8",
          "ensemblId": "ENSG00000182162",
          "biotype": "protein_coding",
          "start": 1462572,
          "end": 1537207,
          "strand": "-",
          "slug": "p2ry8"
        },
        {
          "symbol": "AKAP17A",
          "ensemblId": "ENSG00000197976",
          "biotype": "protein_coding",
          "start": 1591592,
          "end": 1602532,
          "strand": "+",
          "slug": "akap17a"
        },
        {
          "symbol": "ASMT",
          "ensemblId": "ENSG00000196433",
          "biotype": "protein_coding",
          "start": 1615059,
          "end": 1643081,
          "strand": "+",
          "slug": "asmt"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "surfactant-metabolism-dysfunction",
        "name": "Dysfonctionnement du métabolisme du surfactant",
        "diseases": [
          {
            "mondoId": "MONDO:0012580",
            "name": "Protéinose alvéolaire pulmonaire héréditaire et dysfonctionnement du surfactant",
            "genes": 6,
            "inheritance": null,
            "description": "Troubles héréditaires de la production ou de l'élimination du surfactant pulmonaire, notamment ceux causés par SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB et MARS1, allant de la détresse respiratoire mortelle chez le nouveau-né à la pneumopathie interstitielle chez l'enfant et l'adulte.",
            "management": "Le fait de connaître ces variants peut favoriser un diagnostic plus précoce, une prise en charge respiratoire spécialisée, l'envisagement, lorsque cela est indiqué, d'un lavage pulmonaire total ou d'une greffe, ainsi que des informations utiles pour la planification familiale.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/surfactant-metabolism-dysfunction"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acute-infectious-pneumonia",
        "name": "Acute infectious pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-infectious-pneumonia"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "abnormal-circulating-protein-concentration",
        "name": "Blood protein disease",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-protein-concentration"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "crackles",
        "name": "Crackles",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/crackles"
      },
      {
        "slug": "crazy-paving-pattern",
        "name": "Crazy paving pattern",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crazy-paving-pattern"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "elevated-circulating-cea-concentration",
        "name": "Elevated circulating CEA concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-cea-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "foam-cells",
        "name": "Foam cells",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foam-cells"
      },
      {
        "slug": "ground-glass-opacification",
        "name": "Ground-glass opacification",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ground-glass-opacification"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "intraalveolar-phospholipid-accumulation",
        "name": "Intraalveolar phospholipid accumulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/intraalveolar-phospholipid-accumulation"
      },
      {
        "slug": "hypoxemia",
        "name": "Low blood oxygen level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoxemia"
      },
      {
        "slug": "reduced-forced-expiratory-volume-in-one-second",
        "name": "Reduced forced expiratory volume in one second",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-forced-expiratory-volume-in-one-second"
      },
      {
        "slug": "reduced-forced-vital-capacity",
        "name": "Reduced forced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      }
    ],
    "related": [
      {
        "slug": "abca3",
        "symbol": "ABCA3",
        "name": "ATP binding cassette subfamily A member 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abca3"
      },
      {
        "slug": "csf2rb",
        "symbol": "CSF2RB",
        "name": "colony stimulating factor 2 receptor subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/csf2rb"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "name": "methionyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/mars1"
      },
      {
        "slug": "sftpb",
        "symbol": "SFTPB",
        "name": "surfactant protein B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/sftpb"
      },
      {
        "slug": "sftpc",
        "symbol": "SFTPC",
        "name": "surfactant protein C",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/sftpc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}