{
  "url": "https://dantelabs.com/sv/genes/psmb9",
  "gene": {
    "slug": "psmb9",
    "symbol": "PSMB9",
    "name": "proteasome 20S subunit beta 9",
    "hgnc": "HGNC:9546",
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    "location": "6p21.32",
    "locusType": "gene with protein product",
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      "RING12",
      "beta1i",
      "PSMB6i"
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      "LMP2"
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    "entrezId": 5698,
    "omim": [
      "177045"
    ],
    "uniprot": [
      "P28065"
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      "end": 32859851,
      "strand": "+",
      "ensemblTranscript": "ENST00000374859.3",
      "refseqTranscript": "NM_002800.5",
      "ensemblProtein": "ENSP00000363993.2",
      "refseqProtein": "NP_002791.1",
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    },
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        {
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        {
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        {
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        {
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        {
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        {
          "symbol": "HLA-DMA",
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        {
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        {
          "symbol": "HLA-DPA1",
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        {
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        {
          "symbol": "COL11A2",
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        {
          "symbol": "RXRB",
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        {
          "symbol": "SLC39A7",
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        {
          "symbol": "HSD17B8",
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        {
          "symbol": "RING1",
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          "biotype": "protein_coding",
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        {
          "symbol": "VPS52",
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        {
          "symbol": "RPS18",
          "ensemblId": "ENSG00000231500",
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        {
          "symbol": "B3GALT4",
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          "slug": "b3galt4"
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        {
          "symbol": "WDR46",
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        {
          "symbol": "PFDN6",
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        },
        {
          "symbol": "RGL2",
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        {
          "symbol": "TAPBP",
          "ensemblId": "ENSG00000231925",
          "biotype": "protein_coding",
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          "slug": "tapbp"
        },
        {
          "symbol": "ZBTB22",
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          "biotype": "protein_coding",
          "start": 33314406,
          "end": 33318021,
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          "slug": "zbtb22"
        },
        {
          "symbol": "DAXX",
          "ensemblId": "ENSG00000204209",
          "biotype": "protein_coding",
          "start": 33318558,
          "end": 33323259,
          "strand": "-",
          "slug": "daxx"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285064",
          "biotype": "protein_coding",
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          "end": 33329286,
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        },
        {
          "symbol": "SMIM40",
          "ensemblId": "ENSG00000286920",
          "biotype": "protein_coding",
          "start": 33323628,
          "end": 33329279,
          "strand": "-",
          "slug": "smim40"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Sällsynta monogena autoinflammatoriska sjukdomar",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "PTPN2-relaterad autoinflammation och autoimmunitet",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Inflammatorisk och autoimmun sjukdom med tidig debut, inklusive kolit och artrit, orsakad av varianter i PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "type-1-interferonopathies",
        "name": "Typ I-interferonopatier",
        "diseases": [
          {
            "mondoId": "MONDO:0009726",
            "name": "Proteasomassocierade autoinflammatoriska syndrom (CANDLE/PRAAS)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Återkommande feber, hudlesioner, förlust av fettvävnad och ledproblem orsakade av defekter i proteasomen (PSMB8, PSMB9, PSMB10, POMP och andra).",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/type-1-interferonopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "cardiogenic-shock",
        "name": "Cardiogenic shock",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiogenic-shock"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-gamma-delta-t-cell-proportion",
        "name": "Decreased gamma-delta T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-gamma-delta-t-cell-proportion"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "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": "elevated-circulating-d-dimer-concentration",
        "name": "Elevated circulating D-dimer concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-d-dimer-concentration"
      },
      {
        "slug": "elevated-circulating-myoglobin-concentration",
        "name": "Elevated circulating myoglobin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-myoglobin-concentration"
      },
      {
        "slug": "elevated-circulating-nt-probnp-concentration",
        "name": "Elevated circulating NT-proBNP concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-nt-probnp-concentration"
      },
      {
        "slug": "elevated-circulating-scd25-concentration",
        "name": "Elevated circulating sCD25 concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-scd25-concentration"
      },
      {
        "slug": "elevated-circulating-tumor-necrosis-factor-alpha-concentration",
        "name": "Elevated circulating tumor necrosis factor alpha concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-tumor-necrosis-factor-alpha-concentration"
      },
      {
        "slug": "increased-circulating-ferritin-concentration",
        "name": "Elevated serum ferritin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "increased-circulating-interferon-gamma-concentration",
        "name": "Increased circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-10-concentration",
        "name": "Increased circulating interleukin 10 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-10-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-18-concentration",
        "name": "Increased circulating interleukin 18 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-18-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-1beta-concentration",
        "name": "Increased circulating interleukin 1beta concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-1beta-concentration"
      },
      {
        "slug": "increased-circulating-interleukin-6-concentration",
        "name": "Increased circulating interleukin 6 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-6-concentration"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "increased-circulating-troponin-t-concentration",
        "name": "Increased circulating troponin T concentration",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-troponin-t-concentration"
      },
      {
        "slug": "increased-csf-protein-concentration",
        "name": "Increased CSF protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-protein-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "simple-febrile-seizure",
        "name": "Simple febrile seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/simple-febrile-seizure"
      },
      {
        "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"
      }
    ],
    "related": [
      {
        "slug": "pomp",
        "symbol": "POMP",
        "name": "proteasome maturation protein",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/pomp"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "name": "proteasome 20S subunit beta 10",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/psmb10"
      },
      {
        "slug": "psmb8",
        "symbol": "PSMB8",
        "name": "proteasome 20S subunit beta 8",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/psmb8"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "name": "acid phosphatase 5, tartrate resistant",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acp5"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "name": "adenosine deaminase 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ada2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adar"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "name": "coat protein complex I subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/copa"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ifih1"
      },
      {
        "slug": "pola1",
        "symbol": "POLA1",
        "name": "DNA polymerase alpha 1, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/pola1"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ptpn2"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "name": "RNA sensor RIG-I",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/rigi"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/rnaseh2a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}