{
  "url": "https://dantelabs.com/genes/atp6v1b1",
  "gene": {
    "slug": "atp6v1b1",
    "symbol": "ATP6V1B1",
    "name": "ATPase H+ transporting V1 subunit B1",
    "hgnc": "HGNC:853",
    "summary": null,
    "location": "2p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "VATB",
      "RTA1B",
      "Vma2"
    ],
    "previousSymbols": [
      "VPP3",
      "ATP6B1"
    ],
    "ensemblId": "ENSG00000116039",
    "entrezId": 525,
    "omim": [
      "192132"
    ],
    "uniprot": [
      "P15313"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 70935900,
      "end": 70965431,
      "strand": "+",
      "ensemblTranscript": "ENST00000234396.10",
      "refseqTranscript": "NM_001692.4",
      "ensemblProtein": "ENSP00000234396.4",
      "refseqProtein": "NP_001683.2",
      "exons": [
        {
          "start": 70935900,
          "end": 70936072
        },
        {
          "start": 70943658,
          "end": 70943713
        },
        {
          "start": 70958046,
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        },
        {
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        },
        {
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        },
        {
          "start": 70959939,
          "end": 70960078
        },
        {
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        },
        {
          "start": 70961596,
          "end": 70961693
        },
        {
          "start": 70962777,
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        },
        {
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        },
        {
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          "end": 70963654
        },
        {
          "start": 70964438,
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        },
        {
          "start": 70964736,
          "end": 70964865
        },
        {
          "start": 70964958,
          "end": 70965431
        }
      ],
      "cds": {
        "start": 70935955,
        "end": 70965121
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 71163012,
      "end": 71192536,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 70450666,
      "end": 71450665,
      "genes": [
        {
          "symbol": "TGFA",
          "ensemblId": "ENSG00000163235",
          "biotype": "protein_coding",
          "start": 70447284,
          "end": 70554193,
          "strand": "-",
          "slug": "tgfa"
        },
        {
          "symbol": "ADD2",
          "ensemblId": "ENSG00000075340",
          "biotype": "protein_coding",
          "start": 70607618,
          "end": 70768499,
          "strand": "-",
          "slug": "add2"
        },
        {
          "symbol": "FIGLA",
          "ensemblId": "ENSG00000183733",
          "biotype": "protein_coding",
          "start": 70777310,
          "end": 70790643,
          "strand": "-",
          "slug": "figla"
        },
        {
          "symbol": "CLEC4F",
          "ensemblId": "ENSG00000152672",
          "biotype": "protein_coding",
          "start": 70808643,
          "end": 70820601,
          "strand": "-",
          "slug": "clec4f"
        },
        {
          "symbol": "CD207",
          "ensemblId": "ENSG00000116031",
          "biotype": "protein_coding",
          "start": 70830000,
          "end": 70835822,
          "strand": "-",
          "slug": "cd207"
        },
        {
          "symbol": "VAX2",
          "ensemblId": "ENSG00000116035",
          "biotype": "protein_coding",
          "start": 70900488,
          "end": 70965431,
          "strand": "+",
          "slug": "vax2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258881",
          "biotype": "protein_coding",
          "start": 70939318,
          "end": 70995336,
          "strand": "-"
        },
        {
          "symbol": "TEX261",
          "ensemblId": "ENSG00000144043",
          "biotype": "protein_coding",
          "start": 70968325,
          "end": 70994873,
          "strand": "-",
          "slug": "tex261"
        },
        {
          "symbol": "ANKRD53",
          "ensemblId": "ENSG00000144031",
          "biotype": "protein_coding",
          "start": 70978380,
          "end": 70985967,
          "strand": "+",
          "slug": "ankrd53"
        },
        {
          "symbol": "NAGK",
          "ensemblId": "ENSG00000124357",
          "biotype": "protein_coding",
          "start": 71064344,
          "end": 71079808,
          "strand": "+",
          "slug": "nagk"
        },
        {
          "symbol": "MCEE",
          "ensemblId": "ENSG00000124370",
          "biotype": "protein_coding",
          "start": 71108926,
          "end": 71130279,
          "strand": "-",
          "slug": "mcee"
        },
        {
          "symbol": "MPHOSPH10",
          "ensemblId": "ENSG00000124383",
          "biotype": "protein_coding",
          "start": 71130305,
          "end": 71150101,
          "strand": "+",
          "slug": "mphosph10"
        },
        {
          "symbol": "PAIP2B",
          "ensemblId": "ENSG00000124374",
          "biotype": "protein_coding",
          "start": 71181702,
          "end": 71227112,
          "strand": "-",
          "slug": "paip2b"
        },
        {
          "symbol": "ZNF638",
          "ensemblId": "ENSG00000075292",
          "biotype": "protein_coding",
          "start": 71276537,
          "end": 71437183,
          "strand": "+",
          "slug": "znf638"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "renal-tubular-acidosis",
        "name": "Renal Tubular Acidosis",
        "diseases": [
          {
            "mondoId": "MONDO:0015827",
            "name": "Distal Renal Tubular Acidosis",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "An inherited inability of the kidney's collecting ducts to excrete acid, caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4 and other genes; some forms also cause hearing loss.",
            "management": "Alkali treatment can prevent kidney calcification and growth problems, and some forms warrant a hearing assessment.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/renal-tubular-acidosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "renal-tubular-acidosis",
        "name": "Accumulation of acid in body due to kidney problem",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-tubular-acidosis"
      },
      {
        "slug": "alkaline-urine",
        "name": "Alkaline urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alkaline-urine"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "decreased-serum-bicarbonate-concentration",
        "name": "Decreased serum bicarbonate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-serum-bicarbonate-concentration"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "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": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "enlarged-vestibular-aqueduct",
        "name": "Enlarged vestibular aqueduct",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-vestibular-aqueduct"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hyperchloremia",
        "name": "Hyperchloremia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperchloremia"
      },
      {
        "slug": "hyperchloremic-metabolic-acidosis",
        "name": "Hyperchloremic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis"
      },
      {
        "slug": "hypokalemic-metabolic-alkalosis",
        "name": "Hypokalemic metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemic-metabolic-alkalosis"
      },
      {
        "slug": "hyposthenuria",
        "name": "Hyposthenuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyposthenuria"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "medullary-nephrocalcinosis",
        "name": "Medullary nephrocalcinosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/medullary-nephrocalcinosis"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-sensorineural-hearing-impairment",
        "name": "Severe sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "atp6v0a4",
        "symbol": "ATP6V0A4",
        "name": "ATPase H+ transporting V0 subunit a4",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp6v0a4"
      },
      {
        "slug": "foxi1",
        "symbol": "FOXI1",
        "name": "forkhead box I1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/foxi1"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/genes/slc4a1"
      },
      {
        "slug": "slc4a3",
        "symbol": "SLC4A3",
        "name": "solute carrier family 4 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/genes/slc4a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}