{
  "url": "https://dantelabs.com/it/genes/got2",
  "gene": {
    "slug": "got2",
    "symbol": "GOT2",
    "name": "glutamic-oxaloacetic transaminase 2",
    "hgnc": "HGNC:4433",
    "summary": null,
    "location": "16q21",
    "locusType": "gene with protein product",
    "aliases": [
      "mitAAT",
      "KATIV",
      "KAT4",
      "KYAT4",
      "mAspAT"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000125166",
    "entrezId": 2806,
    "omim": [
      "138150"
    ],
    "uniprot": [
      "P00505"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 58707131,
      "end": 58734316,
      "strand": "-",
      "ensemblTranscript": "ENST00000245206.10",
      "refseqTranscript": "NM_002080.4",
      "ensemblProtein": "ENSP00000245206.5",
      "refseqProtein": "NP_002071.2",
      "exons": [
        {
          "start": 58707131,
          "end": 58708293
        },
        {
          "start": 58709417,
          "end": 58709567
        },
        {
          "start": 58716014,
          "end": 58716179
        },
        {
          "start": 58716663,
          "end": 58716813
        },
        {
          "start": 58718196,
          "end": 58718300
        },
        {
          "start": 58718527,
          "end": 58718688
        },
        {
          "start": 58719196,
          "end": 58719255
        },
        {
          "start": 58722150,
          "end": 58722278
        },
        {
          "start": 58723746,
          "end": 58723902
        },
        {
          "start": 58734140,
          "end": 58734316
        }
      ],
      "cds": {
        "start": 58708171,
        "end": 58734228
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 58741035,
      "end": 58768261,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 58220724,
      "end": 59220723,
      "genes": [
        {
          "symbol": "CFAP263",
          "ensemblId": "ENSG00000103021",
          "biotype": "protein_coding",
          "start": 58231157,
          "end": 58283836,
          "strand": "+",
          "slug": "cfap263"
        },
        {
          "symbol": "PRSS54",
          "ensemblId": "ENSG00000103023",
          "biotype": "protein_coding",
          "start": 58279997,
          "end": 58295047,
          "strand": "-",
          "slug": "prss54"
        },
        {
          "symbol": "GINS3",
          "ensemblId": "ENSG00000181938",
          "biotype": "protein_coding",
          "start": 58295080,
          "end": 58406147,
          "strand": "+",
          "slug": "gins3"
        },
        {
          "symbol": "NDRG4",
          "ensemblId": "ENSG00000103034",
          "biotype": "protein_coding",
          "start": 58462846,
          "end": 58513628,
          "strand": "+",
          "slug": "ndrg4"
        },
        {
          "symbol": "SETD6",
          "ensemblId": "ENSG00000103037",
          "biotype": "protein_coding",
          "start": 58515479,
          "end": 58523842,
          "strand": "+",
          "slug": "setd6"
        },
        {
          "symbol": "CNOT1",
          "ensemblId": "ENSG00000125107",
          "biotype": "protein_coding",
          "start": 58518546,
          "end": 58629885,
          "strand": "-",
          "slug": "cnot1"
        },
        {
          "symbol": "SLC38A7",
          "ensemblId": "ENSG00000103042",
          "biotype": "protein_coding",
          "start": 58663015,
          "end": 58684770,
          "strand": "-",
          "slug": "slc38a7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilessia (Pannello completo)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilessia",
            "genes": 171,
            "inheritance": null,
            "description": "Un disturbo cerebrale caratterizzato da episodi di scarica neuronale eccessiva e anomala, che causano manifestazioni transitorie di disfunzione neurologica sensoriale, motoria o psichica. Questi episodi possono o meno essere accompagnati da perdita di coscienza o convulsioni.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "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": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "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": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}