{
  "url": "https://dantelabs.com/hu/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": "Surfactant Metabolism Dysfunction",
        "diseases": [
          {
            "mondoId": "MONDO:0012580",
            "name": "Hereditary Pulmonary Alveolar Proteinosis and Surfactant Dysfunction",
            "genes": 6,
            "inheritance": null,
            "description": "Inherited disorders of surfactant production or clearance, including those caused by SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB and MARS1, that range from fatal respiratory distress in newborns to interstitial lung disease in children and adults.",
            "management": "Knowing can support earlier diagnosis, specialist respiratory care, consideration of whole-lung lavage or transplant where appropriate, and information for family planning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/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/hu/genes/abca3"
      },
      {
        "slug": "csf2rb",
        "symbol": "CSF2RB",
        "name": "colony stimulating factor 2 receptor subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/csf2rb"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "name": "methionyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mars1"
      },
      {
        "slug": "sftpb",
        "symbol": "SFTPB",
        "name": "surfactant protein B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/sftpb"
      },
      {
        "slug": "sftpc",
        "symbol": "SFTPC",
        "name": "surfactant protein C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/sftpc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}