{
  "url": "https://dantelabs.com/hu/genes/sftpb",
  "gene": {
    "slug": "sftpb",
    "symbol": "SFTPB",
    "name": "surfactant protein B",
    "hgnc": "HGNC:10801",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [
      "SFTP3"
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    "entrezId": 6439,
    "omim": [
      "178640"
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    "uniprot": [
      "P07988"
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      "release": "v1.5",
      "chrom": "2",
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      "end": 85668199,
      "strand": "-",
      "ensemblTranscript": "ENST00000519937.7",
      "refseqTranscript": "NM_000542.5",
      "ensemblProtein": "ENSP00000428719.2",
      "refseqProtein": "NP_000533.4",
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    },
    "grch37": {
      "build": "GRCh37",
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      "chrom": "2",
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      "end": 85895864,
      "strand": "-"
    },
    "neighbourhood": {
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      "end": 86162756,
      "genes": [
        {
          "symbol": "TCF7L1",
          "ensemblId": "ENSG00000152284",
          "biotype": "protein_coding",
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          "end": 85310388,
          "strand": "+",
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        {
          "symbol": "TGOLN2",
          "ensemblId": "ENSG00000152291",
          "biotype": "protein_coding",
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          "end": 85328301,
          "strand": "-",
          "slug": "tgoln2"
        },
        {
          "symbol": "RETSAT",
          "ensemblId": "ENSG00000042445",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "retsat"
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        {
          "symbol": "ELMOD3",
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          "strand": "+",
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        {
          "symbol": "CAPG",
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          "biotype": "protein_coding",
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          "end": 85422017,
          "strand": "-",
          "slug": "capg"
        },
        {
          "symbol": "SH2D6",
          "ensemblId": "ENSG00000152292",
          "biotype": "protein_coding",
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          "end": 85437029,
          "strand": "+",
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        },
        {
          "symbol": "MAT2A",
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          "biotype": "protein_coding",
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          "end": 85545281,
          "strand": "+",
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        },
        {
          "symbol": "GGCX",
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          "biotype": "protein_coding",
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          "end": 85561838,
          "strand": "-",
          "slug": "ggcx"
        },
        {
          "symbol": "VAMP8",
          "ensemblId": "ENSG00000118640",
          "biotype": "protein_coding",
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          "end": 85582032,
          "strand": "+",
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        {
          "symbol": "VAMP5",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "RNF181",
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          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "TMEM150A",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "USP39",
          "ensemblId": "ENSG00000168883",
          "biotype": "protein_coding",
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          "end": 85657710,
          "strand": "+",
          "slug": "usp39"
        },
        {
          "symbol": "C2orf68",
          "ensemblId": "ENSG00000168887",
          "biotype": "protein_coding",
          "start": 85605254,
          "end": 85612066,
          "strand": "-",
          "slug": "c2orf68"
        },
        {
          "symbol": "GNLY",
          "ensemblId": "ENSG00000115523",
          "biotype": "protein_coding",
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          "end": 85698854,
          "strand": "+",
          "slug": "gnly"
        },
        {
          "symbol": "ATOH8",
          "ensemblId": "ENSG00000168874",
          "biotype": "protein_coding",
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          "end": 85794266,
          "strand": "+",
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        },
        {
          "symbol": "ST3GAL5",
          "ensemblId": "ENSG00000115525",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "st3gal5"
        },
        {
          "symbol": "POLR1A",
          "ensemblId": "ENSG00000068654",
          "biotype": "protein_coding",
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          "end": 86106155,
          "strand": "-",
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        },
        {
          "symbol": "PTCD3",
          "ensemblId": "ENSG00000132300",
          "biotype": "protein_coding",
          "start": 86106223,
          "end": 86142157,
          "strand": "+",
          "slug": "ptcd3"
        },
        {
          "symbol": "IMMT",
          "ensemblId": "ENSG00000132305",
          "biotype": "protein_coding",
          "start": 86142798,
          "end": 86195631,
          "strand": "-",
          "slug": "immt"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "surfactant-metabolism-dysfunction",
        "name": "Surfactant Metabolism Dysfunction",
        "diseases": [
          {
            "mondoId": "MONDO:0009929",
            "name": "Surfactant Metabolism Dysfunction, Pulmonary, 1",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "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",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/surfactant-metabolism-dysfunction"
      }
    ],
    "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": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      },
      {
        "slug": "absent-bronchoalveolar-dimeric-surfactant-protein-b",
        "name": "Absent bronchoalveolar dimeric surfactant-protein B",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/absent-bronchoalveolar-dimeric-surfactant-protein-b"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "chronic-lung-disease",
        "name": "Chronic lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-lung-disease"
      },
      {
        "slug": "clubbing",
        "name": "Clubbing of fingers and toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clubbing"
      },
      {
        "slug": "desquamative-interstitial-pneumonitis",
        "name": "Desquamative interstitial pneumonitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/desquamative-interstitial-pneumonitis"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "pulmonary-edema",
        "name": "Excess fluid in lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-edema"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "ground-glass-opacification",
        "name": "Ground-glass opacification",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ground-glass-opacification"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "interlobular-septal-thickening",
        "name": "Interlobular septal thickening",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/interlobular-septal-thickening"
      },
      {
        "slug": "interstitial-pneumonitis",
        "name": "Interstitial pneumonitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/interstitial-pneumonitis"
      },
      {
        "slug": "intraalveolar-phospholipid-accumulation",
        "name": "Intraalveolar phospholipid accumulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intraalveolar-phospholipid-accumulation"
      },
      {
        "slug": "hypoxemia",
        "name": "Low blood oxygen level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoxemia"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "pulmonary-infiltrates",
        "name": "Lung infiltrates",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-infiltrates"
      },
      {
        "slug": "misalignment-of-the-pulmonary-veins",
        "name": "Misalignment of the pulmonary veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/misalignment-of-the-pulmonary-veins"
      },
      {
        "slug": "nasal-flaring",
        "name": "Nasal flaring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-flaring"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "atelectasis",
        "name": "Partial or complete collapse of part or entire lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atelectasis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "pulmonary-opacity",
        "name": "Pulmonary opacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-opacity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "right-ventricular-hypertrophy",
        "name": "Right ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/right-ventricular-hypertrophy"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "spontaneous-neonatal-pneumothorax",
        "name": "Spontaneous neonatal pneumothorax",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spontaneous-neonatal-pneumothorax"
      }
    ],
    "related": [
      {
        "slug": "abca3",
        "symbol": "ABCA3",
        "name": "ATP binding cassette subfamily A member 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abca3"
      },
      {
        "slug": "csf2ra",
        "symbol": "CSF2RA",
        "name": "colony stimulating factor 2 receptor subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/csf2ra"
      },
      {
        "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": "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": []
  }
}