{
  "url": "https://dantelabs.com/it/genes/atp8a2",
  "gene": {
    "slug": "atp8a2",
    "symbol": "ATP8A2",
    "name": "ATPase phospholipid transporting 8A2",
    "hgnc": "HGNC:13533",
    "summary": null,
    "location": "13q12.13",
    "locusType": "gene with protein product",
    "aliases": [
      "ATPIB",
      "ML-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132932",
    "entrezId": 51761,
    "omim": [
      "605870"
    ],
    "uniprot": [
      "Q9NTI2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 25371974,
      "end": 26025851,
      "strand": "+",
      "ensemblTranscript": "ENST00000381655.7",
      "refseqTranscript": "NM_016529.6",
      "ensemblProtein": "ENSP00000371070.2",
      "refseqProtein": "NP_057613.4",
      "exons": [
        {
          "start": 25371974,
          "end": 25372288
        },
        {
          "start": 25468977,
          "end": 25469121
        },
        {
          "start": 25529999,
          "end": 25530098
        },
        {
          "start": 25530562,
          "end": 25530660
        },
        {
          "start": 25532272,
          "end": 25532317
        },
        {
          "start": 25533273,
          "end": 25533313
        },
        {
          "start": 25537988,
          "end": 25538061
        },
        {
          "start": 25540319,
          "end": 25540388
        },
        {
          "start": 25541919,
          "end": 25542046
        },
        {
          "start": 25543291,
          "end": 25543402
        },
        {
          "start": 25551338,
          "end": 25551503
        },
        {
          "start": 25553793,
          "end": 25553920
        },
        {
          "start": 25554991,
          "end": 25555068
        },
        {
          "start": 25558973,
          "end": 25559061
        },
        {
          "start": 25559721,
          "end": 25559765
        },
        {
          "start": 25563956,
          "end": 25564031
        },
        {
          "start": 25570767,
          "end": 25570872
        },
        {
          "start": 25571610,
          "end": 25571692
        },
        {
          "start": 25574808,
          "end": 25574857
        },
        {
          "start": 25577069,
          "end": 25577138
        },
        {
          "start": 25578815,
          "end": 25578899
        },
        {
          "start": 25579808,
          "end": 25579947
        },
        {
          "start": 25581819,
          "end": 25581957
        },
        {
          "start": 25589635,
          "end": 25589699
        },
        {
          "start": 25699173,
          "end": 25699345
        },
        {
          "start": 25769046,
          "end": 25769229
        },
        {
          "start": 25774849,
          "end": 25774959
        },
        {
          "start": 25828118,
          "end": 25828192
        },
        {
          "start": 25837163,
          "end": 25837285
        },
        {
          "start": 25839546,
          "end": 25839624
        },
        {
          "start": 25860195,
          "end": 25860256
        },
        {
          "start": 25860804,
          "end": 25860860
        },
        {
          "start": 25862301,
          "end": 25862408
        },
        {
          "start": 25961575,
          "end": 25961663
        },
        {
          "start": 25968575,
          "end": 25968679
        },
        {
          "start": 26012531,
          "end": 26012622
        },
        {
          "start": 26019888,
          "end": 26025851
        }
      ],
      "cds": {
        "start": 25372213,
        "end": 26019985
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 25946209,
      "end": 26599989,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 24718096,
      "end": 26679729,
      "genes": [
        {
          "symbol": "RNF17",
          "ensemblId": "ENSG00000132972",
          "biotype": "protein_coding",
          "start": 24764169,
          "end": 24879921,
          "strand": "+",
          "slug": "rnf17"
        },
        {
          "symbol": "CPAP",
          "ensemblId": "ENSG00000151849",
          "biotype": "protein_coding",
          "start": 24882276,
          "end": 24922889,
          "strand": "-",
          "slug": "cpap"
        },
        {
          "symbol": "PABPC3",
          "ensemblId": "ENSG00000151846",
          "biotype": "protein_coding",
          "start": 25096136,
          "end": 25099254,
          "strand": "+",
          "slug": "pabpc3"
        },
        {
          "symbol": "AMER2",
          "ensemblId": "ENSG00000165566",
          "biotype": "protein_coding",
          "start": 25161679,
          "end": 25172288,
          "strand": "-",
          "slug": "amer2"
        },
        {
          "symbol": "MTMR6",
          "ensemblId": "ENSG00000139505",
          "biotype": "protein_coding",
          "start": 25245495,
          "end": 25287546,
          "strand": "-",
          "slug": "mtmr6"
        },
        {
          "symbol": "NUP58",
          "ensemblId": "ENSG00000139496",
          "biotype": "protein_coding",
          "start": 25301523,
          "end": 25365390,
          "strand": "+",
          "slug": "nup58"
        },
        {
          "symbol": "SHISA2",
          "ensemblId": "ENSG00000180730",
          "biotype": "protein_coding",
          "start": 26044497,
          "end": 26052023,
          "strand": "-",
          "slug": "shisa2"
        },
        {
          "symbol": "RNF6",
          "ensemblId": "ENSG00000127870",
          "biotype": "protein_coding",
          "start": 26132112,
          "end": 26222549,
          "strand": "-",
          "slug": "rnf6"
        },
        {
          "symbol": "CDK8",
          "ensemblId": "ENSG00000132964",
          "biotype": "protein_coding",
          "start": 26253891,
          "end": 26420992,
          "strand": "+",
          "slug": "cdk8"
        },
        {
          "symbol": "WASF3",
          "ensemblId": "ENSG00000132970",
          "biotype": "protein_coding",
          "start": 26557650,
          "end": 26688948,
          "strand": "+",
          "slug": "wasf3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Atassie cerebellari autosomiche recessive (incluse CANVAS e AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Atassia cerebellare autosomica recessiva",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "Un gruppo di atassie a trasmissione recessiva causate da varianti bialleliche in geni come RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 e SYNE1.",
            "management": "L'atassia con deficit di vitamina E (TTPA) è trattabile con integratori di vitamina E; le altre forme sono gestite con fisioterapia e cure sintomatiche, e ai familiari può essere proposto il test di portatore.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cerebellar-ataxia-associated-with-quadrupedal-gait",
        "name": "Cerebellar ataxia associated with quadrupedal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-ataxia-associated-with-quadrupedal-gait"
      },
      {
        "slug": "cerebral-palsy",
        "name": "Cerebral palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-palsy"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "corpus-callosum-atrophy",
        "name": "Corpus callosum atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corpus-callosum-atrophy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atg7"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cspp1"
      },
      {
        "slug": "ctdp1",
        "symbol": "CTDP1",
        "name": "CTD phosphatase 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ctdp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}