{
  "url": "https://dantelabs.com/fi/genes/psmg2",
  "gene": {
    "slug": "psmg2",
    "symbol": "PSMG2",
    "name": "proteasome assembly chaperone 2",
    "hgnc": "HGNC:24929",
    "summary": null,
    "location": "18p11.21",
    "locusType": "gene with protein product",
    "aliases": [
      "HCCA3",
      "MDS003",
      "MGC15092",
      "CLAST3",
      "HsT1707",
      "PAC2"
    ],
    "previousSymbols": [
      "TNFSF5IP1"
    ],
    "ensemblId": "ENSG00000128789",
    "entrezId": 56984,
    "omim": [
      "609702"
    ],
    "uniprot": [
      "Q969U7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 12703042,
      "end": 12725740,
      "strand": "+",
      "ensemblTranscript": "ENST00000317615.11",
      "refseqTranscript": "NM_020232.5",
      "ensemblProtein": "ENSP00000325919.6",
      "refseqProtein": "NP_064617.2",
      "exons": [
        {
          "start": 12703042,
          "end": 12703164
        },
        {
          "start": 12706550,
          "end": 12706721
        },
        {
          "start": 12712702,
          "end": 12712760
        },
        {
          "start": 12718517,
          "end": 12718635
        },
        {
          "start": 12720510,
          "end": 12720683
        },
        {
          "start": 12724499,
          "end": 12724619
        },
        {
          "start": 12725439,
          "end": 12725740
        }
      ],
      "cds": {
        "start": 12703108,
        "end": 12725531
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 12658737,
      "end": 12725739,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 12214391,
      "end": 13214390,
      "genes": [
        {
          "symbol": "CIDEA",
          "ensemblId": "ENSG00000176194",
          "biotype": "protein_coding",
          "start": 12254165,
          "end": 12277595,
          "strand": "+",
          "slug": "cidea"
        },
        {
          "symbol": "TUBB6",
          "ensemblId": "ENSG00000176014",
          "biotype": "protein_coding",
          "start": 12307287,
          "end": 12345784,
          "strand": "+",
          "slug": "tubb6"
        },
        {
          "symbol": "AFG3L2",
          "ensemblId": "ENSG00000141385",
          "biotype": "protein_coding",
          "start": 12328871,
          "end": 12377473,
          "strand": "-",
          "slug": "afg3l2"
        },
        {
          "symbol": "PRELID3A",
          "ensemblId": "ENSG00000141391",
          "biotype": "protein_coding",
          "start": 12407896,
          "end": 12432254,
          "strand": "+",
          "slug": "prelid3a"
        },
        {
          "symbol": "SPIRE1",
          "ensemblId": "ENSG00000134278",
          "biotype": "protein_coding",
          "start": 12446512,
          "end": 12658129,
          "strand": "-",
          "slug": "spire1"
        },
        {
          "symbol": "CEP76",
          "ensemblId": "ENSG00000101624",
          "biotype": "protein_coding",
          "start": 12660738,
          "end": 12702777,
          "strand": "-",
          "slug": "cep76"
        },
        {
          "symbol": "PTPN2",
          "ensemblId": "ENSG00000175354",
          "biotype": "protein_coding",
          "start": 12785478,
          "end": 12929643,
          "strand": "-",
          "slug": "ptpn2"
        },
        {
          "symbol": "SEH1L",
          "ensemblId": "ENSG00000085415",
          "biotype": "protein_coding",
          "start": 12947133,
          "end": 12987713,
          "strand": "+",
          "slug": "seh1l"
        },
        {
          "symbol": "CEP192",
          "ensemblId": "ENSG00000101639",
          "biotype": "protein_coding",
          "start": 12991283,
          "end": 13125053,
          "strand": "+",
          "slug": "cep192"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acute-phase-response",
        "name": "Acute phase response",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acute-phase-response"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "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": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "generalized-lipodystrophy",
        "name": "Generalized lipodystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-lipodystrophy"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "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": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}