{
  "url": "https://dantelabs.com/it/genes/atp6v0a4",
  "gene": {
    "slug": "atp6v0a4",
    "symbol": "ATP6V0A4",
    "name": "ATPase H+ transporting V0 subunit a4",
    "hgnc": "HGNC:866",
    "summary": null,
    "location": "7q34",
    "locusType": "gene with protein product",
    "aliases": [
      "RDRTA2",
      "VPP2",
      "RTADR",
      "a4",
      "Vph1",
      "Stv1"
    ],
    "previousSymbols": [
      "ATP6N1B",
      "ATP6N2",
      "RTA1C"
    ],
    "ensemblId": "ENSG00000105929",
    "entrezId": 50617,
    "omim": [
      "605239"
    ],
    "uniprot": [
      "Q9HBG4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 138706294,
      "end": 138798196,
      "strand": "-",
      "ensemblTranscript": "ENST00000310018.7",
      "refseqTranscript": "NM_020632.3",
      "ensemblProtein": "ENSP00000308122.2",
      "refseqProtein": "NP_065683.2",
      "exons": [
        {
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        },
        {
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        },
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        },
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        },
        {
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      ],
      "cds": {
        "start": 138706624,
        "end": 138771247
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 138391040,
      "end": 138484305,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 138252245,
      "end": 139252244,
      "genes": [
        {
          "symbol": "TRIM24",
          "ensemblId": "ENSG00000122779",
          "biotype": "protein_coding",
          "start": 138460193,
          "end": 138590023,
          "strand": "+",
          "slug": "trim24"
        },
        {
          "symbol": "SVOPL",
          "ensemblId": "ENSG00000157703",
          "biotype": "protein_coding",
          "start": 138594285,
          "end": 138701382,
          "strand": "-",
          "slug": "svopl"
        },
        {
          "symbol": "TMEM213",
          "ensemblId": "ENSG00000214128",
          "biotype": "protein_coding",
          "start": 138797952,
          "end": 138838711,
          "strand": "+",
          "slug": "tmem213"
        },
        {
          "symbol": "KIAA1549",
          "ensemblId": "ENSG00000122778",
          "biotype": "protein_coding",
          "start": 138831381,
          "end": 138982084,
          "strand": "-",
          "slug": "kiaa1549"
        },
        {
          "symbol": "ZC3HAV1L",
          "ensemblId": "ENSG00000146858",
          "biotype": "protein_coding",
          "start": 139021498,
          "end": 139036219,
          "strand": "-",
          "slug": "zc3hav1l"
        },
        {
          "symbol": "ZC3HAV1",
          "ensemblId": "ENSG00000105939",
          "biotype": "protein_coding",
          "start": 139043515,
          "end": 139132122,
          "strand": "-",
          "slug": "zc3hav1"
        },
        {
          "symbol": "IFT56",
          "ensemblId": "ENSG00000105948",
          "biotype": "protein_coding",
          "start": 139133744,
          "end": 139191986,
          "strand": "+",
          "slug": "ift56"
        },
        {
          "symbol": "UBN2",
          "ensemblId": "ENSG00000157741",
          "biotype": "protein_coding",
          "start": 139230356,
          "end": 139330427,
          "strand": "+",
          "slug": "ubn2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "renal-tubular-acidosis",
        "name": "Acidosi tubulare renale",
        "diseases": [
          {
            "mondoId": "MONDO:0015827",
            "name": "Acidosi tubulare renale distale",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Un'incapacità ereditaria dei dotti collettori del rene di eliminare l'acido, causata da varianti in SLC4A1, ATP6V1B1, ATP6V0A4 e altri geni; alcune forme causano anche perdita dell'udito.",
            "management": "Il trattamento alcalinizzante può prevenire la calcificazione renale e i problemi di crescita; alcune forme richiedono una valutazione dell'udito.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/renal-tubular-acidosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "bilateral-sensorineural-hearing-impairment",
        "name": "Bilateral sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "distal-renal-tubular-acidosis",
        "name": "Distal renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-renal-tubular-acidosis"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rickets"
      }
    ],
    "related": [
      {
        "slug": "atp6v1b1",
        "symbol": "ATP6V1B1",
        "name": "ATPase H+ transporting V1 subunit B1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp6v1b1"
      },
      {
        "slug": "foxi1",
        "symbol": "FOXI1",
        "name": "forkhead box I1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/foxi1"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/slc4a1"
      },
      {
        "slug": "slc4a3",
        "symbol": "SLC4A3",
        "name": "solute carrier family 4 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/slc4a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}