{
  "url": "https://dantelabs.com/no/genes/tars2",
  "gene": {
    "slug": "tars2",
    "symbol": "TARS2",
    "name": "threonyl-tRNA synthetase 2, mitochondrial",
    "hgnc": "HGNC:30740",
    "summary": null,
    "location": "1q21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ12528"
    ],
    "previousSymbols": [
      "TARSL1"
    ],
    "ensemblId": "ENSG00000143374",
    "entrezId": 80222,
    "omim": [
      "612805"
    ],
    "uniprot": [
      "Q9BW92"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 150487419,
      "end": 150507602,
      "strand": "+",
      "ensemblTranscript": "ENST00000369064.8",
      "refseqTranscript": "NM_025150.5",
      "ensemblProtein": "ENSP00000358060.3",
      "refseqProtein": "NP_079426.2",
      "exons": [
        {
          "start": 150487419,
          "end": 150487516
        },
        {
          "start": 150487858,
          "end": 150488054
        },
        {
          "start": 150488964,
          "end": 150489087
        },
        {
          "start": 150490601,
          "end": 150490725
        },
        {
          "start": 150491394,
          "end": 150491511
        },
        {
          "start": 150491598,
          "end": 150491662
        },
        {
          "start": 150492411,
          "end": 150492489
        },
        {
          "start": 150496482,
          "end": 150496628
        },
        {
          "start": 150496810,
          "end": 150496908
        },
        {
          "start": 150497530,
          "end": 150497747
        },
        {
          "start": 150498502,
          "end": 150498664
        },
        {
          "start": 150498897,
          "end": 150499034
        },
        {
          "start": 150499216,
          "end": 150499293
        },
        {
          "start": 150504335,
          "end": 150504435
        },
        {
          "start": 150504632,
          "end": 150504733
        },
        {
          "start": 150504906,
          "end": 150504978
        },
        {
          "start": 150505591,
          "end": 150505705
        },
        {
          "start": 150506916,
          "end": 150507602
        }
      ],
      "cds": {
        "start": 150487451,
        "end": 150507064
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 150459887,
      "end": 150480078,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 149997511,
      "end": 150997510,
      "genes": [
        {
          "symbol": "OTUD7B",
          "ensemblId": "ENSG00000264522",
          "biotype": "protein_coding",
          "start": 149937812,
          "end": 150010758,
          "strand": "-",
          "slug": "otud7b"
        },
        {
          "symbol": "VPS45",
          "ensemblId": "ENSG00000136631",
          "biotype": "protein_coding",
          "start": 150067279,
          "end": 150145329,
          "strand": "+",
          "slug": "vps45"
        },
        {
          "symbol": "PLEKHO1",
          "ensemblId": "ENSG00000023902",
          "biotype": "protein_coding",
          "start": 150149183,
          "end": 150164720,
          "strand": "+",
          "slug": "plekho1"
        },
        {
          "symbol": "ANP32E",
          "ensemblId": "ENSG00000143401",
          "biotype": "protein_coding",
          "start": 150217463,
          "end": 150236202,
          "strand": "-",
          "slug": "anp32e"
        },
        {
          "symbol": "CA14",
          "ensemblId": "ENSG00000118298",
          "biotype": "protein_coding",
          "start": 150257069,
          "end": 150265078,
          "strand": "+",
          "slug": "ca14"
        },
        {
          "symbol": "APH1A",
          "ensemblId": "ENSG00000117362",
          "biotype": "protein_coding",
          "start": 150265042,
          "end": 150269580,
          "strand": "-",
          "slug": "aph1a"
        },
        {
          "symbol": "C1orf54",
          "ensemblId": "ENSG00000118292",
          "biotype": "protein_coding",
          "start": 150268034,
          "end": 150281744,
          "strand": "+",
          "slug": "c1orf54"
        },
        {
          "symbol": "CIART",
          "ensemblId": "ENSG00000159208",
          "biotype": "protein_coding",
          "start": 150282527,
          "end": 150287093,
          "strand": "+",
          "slug": "ciart"
        },
        {
          "symbol": "MRPS21",
          "ensemblId": "ENSG00000266472",
          "biotype": "protein_coding",
          "start": 150293848,
          "end": 150309828,
          "strand": "+",
          "slug": "mrps21"
        },
        {
          "symbol": "PRPF3",
          "ensemblId": "ENSG00000117360",
          "biotype": "protein_coding",
          "start": 150321476,
          "end": 150353341,
          "strand": "+",
          "slug": "prpf3"
        },
        {
          "symbol": "RPRD2",
          "ensemblId": "ENSG00000163125",
          "biotype": "protein_coding",
          "start": 150363091,
          "end": 150476999,
          "strand": "+",
          "slug": "rprd2"
        },
        {
          "symbol": "ECM1",
          "ensemblId": "ENSG00000143369",
          "biotype": "protein_coding",
          "start": 150507989,
          "end": 150515000,
          "strand": "+",
          "slug": "ecm1"
        },
        {
          "symbol": "ADAMTSL4",
          "ensemblId": "ENSG00000143382",
          "biotype": "protein_coding",
          "start": 150549369,
          "end": 150560937,
          "strand": "+",
          "slug": "adamtsl4"
        },
        {
          "symbol": "MCL1",
          "ensemblId": "ENSG00000143384",
          "biotype": "protein_coding",
          "start": 150560895,
          "end": 150579738,
          "strand": "-",
          "slug": "mcl1"
        },
        {
          "symbol": "ENSA",
          "ensemblId": "ENSG00000143420",
          "biotype": "protein_coding",
          "start": 150599671,
          "end": 150629633,
          "strand": "-",
          "slug": "ensa"
        },
        {
          "symbol": "GOLPH3L",
          "ensemblId": "ENSG00000143457",
          "biotype": "protein_coding",
          "start": 150638727,
          "end": 150697222,
          "strand": "-",
          "slug": "golph3l"
        },
        {
          "symbol": "HORMAD1",
          "ensemblId": "ENSG00000143452",
          "biotype": "protein_coding",
          "start": 150698059,
          "end": 150720895,
          "strand": "-",
          "slug": "hormad1"
        },
        {
          "symbol": "CTSS",
          "ensemblId": "ENSG00000163131",
          "biotype": "protein_coding",
          "start": 150730079,
          "end": 150765957,
          "strand": "-",
          "slug": "ctss"
        },
        {
          "symbol": "CTSK",
          "ensemblId": "ENSG00000143387",
          "biotype": "protein_coding",
          "start": 150794880,
          "end": 150809577,
          "strand": "-",
          "slug": "ctsk"
        },
        {
          "symbol": "ARNT",
          "ensemblId": "ENSG00000143437",
          "biotype": "protein_coding",
          "start": 150808617,
          "end": 150876771,
          "strand": "-",
          "slug": "arnt"
        },
        {
          "symbol": "CTXND2",
          "ensemblId": "ENSG00000283324",
          "biotype": "protein_coding",
          "start": 150887136,
          "end": 150913292,
          "strand": "+",
          "slug": "ctxnd2"
        },
        {
          "symbol": "SETDB1",
          "ensemblId": "ENSG00000143379",
          "biotype": "protein_coding",
          "start": 150926263,
          "end": 150964748,
          "strand": "+",
          "slug": "setdb1"
        },
        {
          "symbol": "CERS2",
          "ensemblId": "ENSG00000143418",
          "biotype": "protein_coding",
          "start": 150959099,
          "end": 150977396,
          "strand": "-",
          "slug": "cers2"
        },
        {
          "symbol": "ANXA9",
          "ensemblId": "ENSG00000143412",
          "biotype": "protein_coding",
          "start": 150981321,
          "end": 150996077,
          "strand": "+",
          "slug": "anxa9"
        },
        {
          "symbol": "MINDY1",
          "ensemblId": "ENSG00000143409",
          "biotype": "protein_coding",
          "start": 150995125,
          "end": 151008376,
          "strand": "-",
          "slug": "mindy1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primær mitokondriesykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinert mangel på oksidativ fosforylering",
            "genes": 48,
            "inheritance": null,
            "description": "Sykdommer, vanligvis forårsaket av kjernegener som er involvert i produksjonen av mitokondrielle proteiner. De reduserer flere respirasjonskjede-komplekser samtidig og gir ofte alvorlig sykdom i flere organsystemer i barndommen.",
            "management": "Å få vite dette kan avslutte en diagnostisk leting og veilede oppfølging og støttende behandling.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "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": "hyperprolinemia",
        "name": "Hyperprolinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperprolinemia"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "increased-cerebral-lipofuscin",
        "name": "Increased cerebral lipofuscin",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-cerebral-lipofuscin"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}