{
  "url": "https://dantelabs.com/de/genes/pomp",
  "gene": {
    "slug": "pomp",
    "symbol": "POMP",
    "name": "proteasome maturation protein",
    "hgnc": "HGNC:20330",
    "summary": null,
    "location": "13q12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "HSPC014",
      "UMP1"
    ],
    "previousSymbols": [
      "C13orf12"
    ],
    "ensemblId": "ENSG00000132963",
    "entrezId": 51371,
    "omim": [
      "613386"
    ],
    "uniprot": [
      "Q9Y244"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 28659130,
      "end": 28678959,
      "strand": "+",
      "ensemblTranscript": "ENST00000380842.5",
      "refseqTranscript": "NM_015932.6",
      "ensemblProtein": "ENSP00000370222.4",
      "refseqProtein": "NP_057016.1",
      "exons": [
        {
          "start": 28659130,
          "end": 28659187
        },
        {
          "start": 28662410,
          "end": 28662507
        },
        {
          "start": 28664509,
          "end": 28664569
        },
        {
          "start": 28668473,
          "end": 28668574
        },
        {
          "start": 28672339,
          "end": 28672432
        },
        {
          "start": 28678035,
          "end": 28678959
        }
      ],
      "cds": {
        "start": 28659185,
        "end": 28678102
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 29233241,
      "end": 29253062,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 28169045,
      "end": 29169044,
      "genes": [
        {
          "symbol": "PAN3",
          "ensemblId": "ENSG00000152520",
          "biotype": "protein_coding",
          "start": 28138193,
          "end": 28295335,
          "strand": "+",
          "slug": "pan3"
        },
        {
          "symbol": "FLT1",
          "ensemblId": "ENSG00000102755",
          "biotype": "protein_coding",
          "start": 28299540,
          "end": 28495288,
          "strand": "-",
          "slug": "flt1"
        },
        {
          "symbol": "SLC46A3",
          "ensemblId": "ENSG00000139508",
          "biotype": "protein_coding",
          "start": 28659982,
          "end": 28719018,
          "strand": "-",
          "slug": "slc46a3"
        },
        {
          "symbol": "MTUS2",
          "ensemblId": "ENSG00000132938",
          "biotype": "protein_coding",
          "start": 28819906,
          "end": 29505947,
          "strand": "+",
          "slug": "mtus2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Seltene monogene autoinflammatorische Erkrankungen",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "PTPN2-assoziierte Autoinflammation und Autoimmunität",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Entzündliche und autoimmune Erkrankung mit frühem Beginn, unter anderem Kolitis und Arthritis, verursacht durch Varianten in PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "type-1-interferonopathies",
        "name": "Typ-I-Interferonopathien",
        "diseases": [
          {
            "mondoId": "MONDO:0009726",
            "name": "Proteasom-assoziierte autoinflammatorische Syndrome (CANDLE/PRAAS)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Wiederkehrendes Fieber, Hautläsionen, Verlust von Fettgewebe und Gelenkprobleme, verursacht durch Defekte im Proteasom (PSMB8, PSMB9, PSMB10, POMP und weitere).",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/type-1-interferonopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-igm-concentration",
        "name": "Abnormal circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-circulating-igm-concentration"
      },
      {
        "slug": "amniotic-constriction-ring",
        "name": "Amniotic constriction ring",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/amniotic-constriction-ring"
      },
      {
        "slug": "annular-cutaneous-lesion",
        "name": "Annular cutaneous lesion",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/annular-cutaneous-lesion"
      },
      {
        "slug": "anti-beta-2-glycoprotein-i-igg-antibody-positivity",
        "name": "Anti-beta-2-Glycoprotein I IgG antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anti-beta-2-glycoprotein-i-igg-antibody-positivity"
      },
      {
        "slug": "anti-thyroglobulin-antibody-positivity",
        "name": "Anti-thyroglobulin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anti-thyroglobulin-antibody-positivity"
      },
      {
        "slug": "anti-thyroid-peroxidase-antibody-positivity",
        "name": "Anti-thyroid peroxidase antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroid-peroxidase-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "congenital-nonbullous-ichthyosiform-erythroderma",
        "name": "Congenital nonbullous ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "decreased-memory-b-cell-proportion",
        "name": "Decreased memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-memory-b-cell-proportion"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "honeycomb-palmoplantar-hyperkeratosis",
        "name": "Honeycomb palmoplantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/honeycomb-palmoplantar-hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "increased-cd4-cd8-ratio",
        "name": "Increased CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-cd4-cd8-ratio"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igg-concentration",
        "name": "Increased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-igg-concentration"
      },
      {
        "slug": "hyperconvex-nail",
        "name": "Increased nail curvature",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperconvex-nail"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "linear-arrays-of-macular-hyperkeratoses-in-flexural-areas",
        "name": "Linear arrays of macular hyperkeratoses in flexural areas",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/linear-arrays-of-macular-hyperkeratoses-in-flexural-areas"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "neutrophilic-infiltration-of-the-skin",
        "name": "Neutrophilic infiltration of the skin",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neutrophilic-infiltration-of-the-skin"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "periorbital-edema",
        "name": "Periorbital edema",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/periorbital-edema"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      }
    ],
    "related": [
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "name": "proteasome 20S subunit beta 10",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/psmb10"
      },
      {
        "slug": "psmb8",
        "symbol": "PSMB8",
        "name": "proteasome 20S subunit beta 8",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/psmb8"
      },
      {
        "slug": "psmb9",
        "symbol": "PSMB9",
        "name": "proteasome 20S subunit beta 9",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/psmb9"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "name": "acid phosphatase 5, tartrate resistant",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/acp5"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "name": "adenosine deaminase 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ada2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/adar"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "name": "coat protein complex I subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/copa"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ifih1"
      },
      {
        "slug": "pola1",
        "symbol": "POLA1",
        "name": "DNA polymerase alpha 1, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/pola1"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ptpn2"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "name": "RNA sensor RIG-I",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/rigi"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/rnaseh2a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}