{
  "url": "https://dantelabs.com/pl/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": "Zaburzenie metabolizmu surfaktantu",
        "diseases": [
          {
            "mondoId": "MONDO:0012580",
            "name": "Dziedziczna pęcherzykowa proteinoza płuc i zaburzenia czynności surfaktantu",
            "genes": 6,
            "inheritance": null,
            "description": "Dziedziczne zaburzenia produkcji lub usuwania surfaktantu, w tym te wywołane przez geny SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB i MARS1, które przebiegają od ciężkiej, zagrażającej życiu niewydolności oddechowej u noworodków po śródmiąższową chorobę płuc u dzieci i dorosłych.",
            "management": "Znajomość tych wyników może sprzyjać wcześniejszemu rozpoznaniu, objęciu opieką specjalistyczną w zakresie chorób układu oddechowego, rozważeniu, w odpowiednich przypadkach, płukania całości płuc lub przeszczepu, a także dostarczyć informacji przydatnych przy planowaniu rodziny.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/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/pl/genes/abca3"
      },
      {
        "slug": "csf2rb",
        "symbol": "CSF2RB",
        "name": "colony stimulating factor 2 receptor subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/csf2rb"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "name": "methionyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/mars1"
      },
      {
        "slug": "sftpb",
        "symbol": "SFTPB",
        "name": "surfactant protein B",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/sftpb"
      },
      {
        "slug": "sftpc",
        "symbol": "SFTPC",
        "name": "surfactant protein C",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/sftpc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}