{
  "url": "https://dantelabs.com/cs/genes/sftpa2",
  "gene": {
    "slug": "sftpa2",
    "symbol": "SFTPA2",
    "name": "surfactant protein A2",
    "hgnc": "HGNC:10799",
    "summary": null,
    "location": "10q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SP-A2",
      "COLEC5"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000185303",
    "entrezId": 729238,
    "omim": [
      "178642"
    ],
    "uniprot": [
      "Q8IWL1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 79555852,
      "end": 79560407,
      "strand": "-",
      "ensemblTranscript": "ENST00000372325.7",
      "refseqTranscript": "NM_001098668.4",
      "ensemblProtein": "ENSP00000361400.2",
      "refseqProtein": "NP_001092138.1",
      "exons": [
        {
          "start": 79555852,
          "end": 79557585
        },
        {
          "start": 79558052,
          "end": 79558129
        },
        {
          "start": 79558886,
          "end": 79559005
        },
        {
          "start": 79559312,
          "end": 79559506
        },
        {
          "start": 79559969,
          "end": 79559998
        },
        {
          "start": 79560364,
          "end": 79560407
        }
      ],
      "cds": {
        "start": 79557209,
        "end": 79559483
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 81315608,
      "end": 81320153,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 79058130,
      "end": 80058129,
      "genes": [
        {
          "symbol": "ZMIZ1",
          "ensemblId": "ENSG00000108175",
          "biotype": "protein_coding",
          "start": 79068904,
          "end": 79316550,
          "strand": "+",
          "slug": "zmiz1"
        },
        {
          "symbol": "PPIF",
          "ensemblId": "ENSG00000108179",
          "biotype": "protein_coding",
          "start": 79347461,
          "end": 79355350,
          "strand": "+",
          "slug": "ppif"
        },
        {
          "symbol": "ZCCHC24",
          "ensemblId": "ENSG00000165424",
          "biotype": "protein_coding",
          "start": 79351307,
          "end": 79445673,
          "strand": "-",
          "slug": "zcchc24"
        },
        {
          "symbol": "EIF5AL1",
          "ensemblId": "ENSG00000253626",
          "biotype": "protein_coding",
          "start": 79512533,
          "end": 79516440,
          "strand": "+",
          "slug": "eif5al1"
        },
        {
          "symbol": "SFTPA1",
          "ensemblId": "ENSG00000122852",
          "biotype": "protein_coding",
          "start": 79559387,
          "end": 79649708,
          "strand": "+",
          "slug": "sftpa1"
        },
        {
          "symbol": "NUTM2B",
          "ensemblId": "ENSG00000188199",
          "biotype": "protein_coding",
          "start": 79703227,
          "end": 79714681,
          "strand": "+",
          "slug": "nutm2b"
        },
        {
          "symbol": "NUTM2E",
          "ensemblId": "ENSG00000228570",
          "biotype": "protein_coding",
          "start": 79826739,
          "end": 79850878,
          "strand": "+",
          "slug": "nutm2e"
        },
        {
          "symbol": "SFTPD",
          "ensemblId": "ENSG00000133661",
          "biotype": "protein_coding",
          "start": 79936423,
          "end": 79983996,
          "strand": "-",
          "slug": "sftpd"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-pulmonary-fibrosis",
        "name": "Familial Pulmonary Fibrosis",
        "diseases": [
          {
            "mondoId": "MONDO:0800497",
            "name": "Interstitial Lung Disease 2 (SFTPA2-related)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Variants in the surfactant protein A2 gene (SFTPA2) can cause familial pulmonary fibrosis, and in some families lung cancer.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/familial-pulmonary-fibrosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pulmonary-interstitial-morphology",
        "name": "Abnormality in area between air sacs in lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "alveolar-cell-carcinoma",
        "name": "Alveolar cell carcinoma",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/alveolar-cell-carcinoma"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "clubbing-of-fingers",
        "name": "Clubbing of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clubbing-of-fingers"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "crackles",
        "name": "Crackles",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crackles"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-dlco",
        "name": "Decreased DLCO",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-dlco"
      },
      {
        "slug": "elevated-bronchoalveolar-lavage-fluid-neutrophil-proportion",
        "name": "Elevated bronchoalveolar lavage fluid neutrophil proportion",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-bronchoalveolar-lavage-fluid-neutrophil-proportion"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "ground-glass-opacification",
        "name": "Ground-glass opacification",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ground-glass-opacification"
      },
      {
        "slug": "honeycomb-lung",
        "name": "Honeycomb lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/honeycomb-lung"
      },
      {
        "slug": "increased-circulating-immunoglobulin-concentration",
        "name": "Increased antibody level in blood",
        "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/increased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "orthodeoxia",
        "name": "Orthodeoxia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orthodeoxia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "pulmonic-regurgitation",
        "name": "Pulmonic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonic-regurgitation"
      },
      {
        "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": "reticular-pattern-on-pulmonary-hrct",
        "name": "Reticular pattern on pulmonary HRCT",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticular-pattern-on-pulmonary-hrct"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "subpleural-honeycombing",
        "name": "Subpleural honeycombing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subpleural-honeycombing"
      },
      {
        "slug": "usual-interstitial-pneumonia",
        "name": "Usual interstitial pneumonia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/usual-interstitial-pneumonia"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}