{
  "url": "https://dantelabs.com/de/genes/ppa2",
  "gene": {
    "slug": "ppa2",
    "symbol": "PPA2",
    "name": "inorganic pyrophosphatase 2",
    "hgnc": "HGNC:28883",
    "summary": null,
    "location": "4q24",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20459"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000138777",
    "entrezId": 27068,
    "omim": [
      "609988"
    ],
    "uniprot": [
      "Q9H2U2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 105369077,
      "end": 105474062,
      "strand": "-",
      "ensemblTranscript": "ENST00000341695.10",
      "refseqTranscript": "NM_176869.3",
      "ensemblProtein": "ENSP00000343885.5",
      "refseqProtein": "NP_789845.1",
      "exons": [
        {
          "start": 105369077,
          "end": 105369753
        },
        {
          "start": 105370837,
          "end": 105370873
        },
        {
          "start": 105386567,
          "end": 105386636
        },
        {
          "start": 105396249,
          "end": 105396334
        },
        {
          "start": 105399037,
          "end": 105399164
        },
        {
          "start": 105424196,
          "end": 105424322
        },
        {
          "start": 105437950,
          "end": 105438036
        },
        {
          "start": 105446383,
          "end": 105446502
        },
        {
          "start": 105449350,
          "end": 105449403
        },
        {
          "start": 105453598,
          "end": 105453642
        },
        {
          "start": 105456681,
          "end": 105456745
        },
        {
          "start": 105473894,
          "end": 105474062
        }
      ],
      "cds": {
        "start": 105369725,
        "end": 105474050
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 106290234,
      "end": 106395238,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 104921570,
      "end": 105921569,
      "genes": [
        {
          "symbol": "TET2",
          "ensemblId": "ENSG00000168769",
          "biotype": "protein_coding",
          "start": 105145875,
          "end": 105279816,
          "strand": "+",
          "slug": "tet2"
        },
        {
          "symbol": "ARHGEF38",
          "ensemblId": "ENSG00000236699",
          "biotype": "protein_coding",
          "start": 105552484,
          "end": 105708093,
          "strand": "+",
          "slug": "arhgef38"
        },
        {
          "symbol": "INTS12",
          "ensemblId": "ENSG00000138785",
          "biotype": "protein_coding",
          "start": 105682014,
          "end": 105895986,
          "strand": "-",
          "slug": "ints12"
        },
        {
          "symbol": "GSTCD",
          "ensemblId": "ENSG00000138780",
          "biotype": "protein_coding",
          "start": 105708774,
          "end": 105849570,
          "strand": "+",
          "slug": "gstcd"
        },
        {
          "symbol": "NPNT",
          "ensemblId": "ENSG00000168743",
          "biotype": "protein_coding",
          "start": 105894775,
          "end": 106115115,
          "strand": "+",
          "slug": "npnt"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Dilatative Kardiomyopathie",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilatative Kardiomyopathie",
            "genes": 50,
            "inheritance": null,
            "description": "Vergrößerung und Schwächung des linken Ventrikels, die nicht durch eine Koronararterien- oder Klappenerkrankung erklärt wird. Erbliche Formen betreffen TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN und viele weitere Gene und umfassen das Barth-Syndrom sowie die Emery-Dreifuss-Muskeldystrophien.",
            "management": "Die Kenntnis einer genetischen Ursache unterstützt eine frühere Herzkontrolle und die Untersuchung von Familienangehörigen. Bei Genen mit einem hohen Arrhythmierisiko, etwa LMNA, FLNC und RBM20, fließt sie in Entscheidungen zur Rhythmusüberwachung und zu implantierbaren Defibrillatoren ein.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/dilated-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "myocarditis",
        "name": "Inflammation of heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/myocarditis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "myocardial-fibrosis",
        "name": "Myocardial fibrosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-fibrosis"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      }
    ],
    "related": [
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/abcc9"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/actc1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bag5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "name": "four and a half LIM domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/fhl1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/fktn"
      },
      {
        "slug": "flii",
        "symbol": "FLII",
        "name": "FLII actin remodeling protein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/flii"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/flnc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}