{
  "url": "https://dantelabs.com/lt/genes/uqcrc2",
  "gene": {
    "slug": "uqcrc2",
    "symbol": "UQCRC2",
    "name": "ubiquinol-cytochrome c reductase core protein 2",
    "hgnc": "HGNC:12586",
    "summary": null,
    "location": "16p12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "QCR2",
      "UQCR2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000140740",
    "entrezId": 7385,
    "omim": [
      "191329"
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    "uniprot": [
      "P22695"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
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      "strand": "+",
      "ensemblTranscript": "ENST00000268379.9",
      "refseqTranscript": "NM_003366.4",
      "ensemblProtein": "ENSP00000268379.4",
      "refseqProtein": "NP_003357.2",
      "exons": [
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        "end": 21983171
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
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      "end": 21994981,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "METTL9",
          "ensemblId": "ENSG00000197006",
          "biotype": "protein_coding",
          "start": 21597218,
          "end": 21657471,
          "strand": "+",
          "slug": "mettl9"
        },
        {
          "symbol": "IGSF6",
          "ensemblId": "ENSG00000140749",
          "biotype": "protein_coding",
          "start": 21639550,
          "end": 21652638,
          "strand": "-",
          "slug": "igsf6"
        },
        {
          "symbol": "OTOA",
          "ensemblId": "ENSG00000155719",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "otoa"
        },
        {
          "symbol": "NPIPB4",
          "ensemblId": "ENSG00000185864",
          "biotype": "protein_coding",
          "start": 21834563,
          "end": 21880827,
          "strand": "-",
          "slug": "npipb4"
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        {
          "symbol": "PDZD9",
          "ensemblId": "ENSG00000155714",
          "biotype": "protein_coding",
          "start": 21983865,
          "end": 22001116,
          "strand": "-",
          "slug": "pdzd9"
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        {
          "symbol": "MOSMO",
          "ensemblId": "ENSG00000185716",
          "biotype": "protein_coding",
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          "end": 22087534,
          "strand": "+",
          "slug": "mosmo"
        },
        {
          "symbol": "VWA3A",
          "ensemblId": "ENSG00000175267",
          "biotype": "protein_coding",
          "start": 22092508,
          "end": 22156964,
          "strand": "+",
          "slug": "vwa3a"
        },
        {
          "symbol": "SDR42E2",
          "ensemblId": "ENSG00000183921",
          "biotype": "protein_coding",
          "start": 22162492,
          "end": 22192208,
          "strand": "+",
          "slug": "sdr42e2"
        },
        {
          "symbol": "EEF2K",
          "ensemblId": "ENSG00000103319",
          "biotype": "protein_coding",
          "start": 22206252,
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          "strand": "+",
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        {
          "symbol": "POLR3E",
          "ensemblId": "ENSG00000058600",
          "biotype": "protein_coding",
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          "slug": "polr3e"
        },
        {
          "symbol": "CDR2",
          "ensemblId": "ENSG00000140743",
          "biotype": "protein_coding",
          "start": 22345936,
          "end": 22437165,
          "strand": "-",
          "slug": "cdr2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primarna mitochondrinė liga",
        "diseases": [
          {
            "mondoId": "MONDO:0000066",
            "name": "Mitochondrijų kvėpavimo grandinės kompleksų nepakankamumas",
            "genes": 61,
            "inheritance": null,
            "description": "Izoliuotas I, II, III, IV ar V komplekso nepakankamumas, kurį sukelia branduolio ar mitochondrijų genų variantai. Jis gali paveikti smegenis, raumenis, širdį, kepenis ir kitus daug energijos naudojančius organus.",
            "management": "Žinojimas gali nutraukti diagnozės paieškas ir padėti stebėti pažeistus organus bei vengti vaistų, toksiškų mitochondrijoms.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "elevated-circulating-fumarate-concentration",
        "name": "Elevated circulating fumarate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-fumarate-concentration"
      },
      {
        "slug": "elevated-circulating-sebacic-acid-concentration",
        "name": "Elevated circulating sebacic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-sebacic-acid-concentration"
      },
      {
        "slug": "elevated-circulating-suberic-acid-concentration",
        "name": "Elevated circulating suberic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-suberic-acid-concentration"
      },
      {
        "slug": "episodic-tachypnea",
        "name": "Episodic tachypnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-tachypnea"
      },
      {
        "slug": "episodic-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/acad9"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5f1e"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/bcs1l"
      },
      {
        "slug": "coa6",
        "symbol": "COA6",
        "name": "cytochrome c oxidase assembly factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/coa6"
      },
      {
        "slug": "coa8",
        "symbol": "COA8",
        "name": "cytochrome c oxidase assembly factor 8",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/coa8"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cox10"
      },
      {
        "slug": "cox15",
        "symbol": "COX15",
        "name": "cytochrome c oxidase assembly factor COX15",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cox15"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "name": "cytochrome c oxidase assembly factor COX16",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cox16"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "name": "cytochrome c oxidase assembly factor COX20",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cox20"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "name": "cytochrome c oxidase subunit 6B1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cox6b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}