{
  "url": "https://dantelabs.com/hu/genes/aqp2",
  "gene": {
    "slug": "aqp2",
    "symbol": "AQP2",
    "name": "aquaporin 2",
    "hgnc": "HGNC:634",
    "summary": null,
    "location": "12q13.12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167580",
    "entrezId": 359,
    "omim": [
      "107777"
    ],
    "uniprot": [
      "P41181"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 49950737,
      "end": 49958878,
      "strand": "+",
      "ensemblTranscript": "ENST00000199280.4",
      "refseqTranscript": "NM_000486.6",
      "ensemblProtein": "ENSP00000199280.3",
      "refseqProtein": "NP_000477.1",
      "exons": [
        {
          "start": 49950737,
          "end": 49951190
        },
        {
          "start": 49954155,
          "end": 49954319
        },
        {
          "start": 49954630,
          "end": 49954710
        },
        {
          "start": 49955399,
          "end": 49958878
        }
      ],
      "cds": {
        "start": 49950831,
        "end": 49955608
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 50344524,
      "end": 50352664,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49454808,
      "end": 50454807,
      "genes": [
        {
          "symbol": "SPATS2",
          "ensemblId": "ENSG00000123352",
          "biotype": "protein_coding",
          "start": 49366240,
          "end": 49528438,
          "strand": "+",
          "slug": "spats2"
        },
        {
          "symbol": "KCNH3",
          "ensemblId": "ENSG00000135519",
          "biotype": "protein_coding",
          "start": 49539020,
          "end": 49558346,
          "strand": "+",
          "slug": "kcnh3"
        },
        {
          "symbol": "MCRS1",
          "ensemblId": "ENSG00000187778",
          "biotype": "protein_coding",
          "start": 49556544,
          "end": 49568150,
          "strand": "-",
          "slug": "mcrs1"
        },
        {
          "symbol": "PRPF40B",
          "ensemblId": "ENSG00000110844",
          "biotype": "protein_coding",
          "start": 49568218,
          "end": 49644666,
          "strand": "+",
          "slug": "prpf40b"
        },
        {
          "symbol": "FAM186B",
          "ensemblId": "ENSG00000135436",
          "biotype": "protein_coding",
          "start": 49582885,
          "end": 49605639,
          "strand": "-",
          "slug": "fam186b"
        },
        {
          "symbol": "FMNL3",
          "ensemblId": "ENSG00000161791",
          "biotype": "protein_coding",
          "start": 49636499,
          "end": 49708165,
          "strand": "-",
          "slug": "fmnl3"
        },
        {
          "symbol": "TMBIM6",
          "ensemblId": "ENSG00000139644",
          "biotype": "protein_coding",
          "start": 49707725,
          "end": 49764935,
          "strand": "+",
          "slug": "tmbim6"
        },
        {
          "symbol": "NCKAP5L",
          "ensemblId": "ENSG00000167566",
          "biotype": "protein_coding",
          "start": 49790615,
          "end": 49828750,
          "strand": "-",
          "slug": "nckap5l"
        },
        {
          "symbol": "BCDIN3D",
          "ensemblId": "ENSG00000186666",
          "biotype": "protein_coding",
          "start": 49836043,
          "end": 49843133,
          "strand": "-",
          "slug": "bcdin3d"
        },
        {
          "symbol": "FAIM2",
          "ensemblId": "ENSG00000135472",
          "biotype": "protein_coding",
          "start": 49866896,
          "end": 49904217,
          "strand": "-",
          "slug": "faim2"
        },
        {
          "symbol": "AQP5",
          "ensemblId": "ENSG00000161798",
          "biotype": "protein_coding",
          "start": 49961228,
          "end": 49965682,
          "strand": "+",
          "slug": "aqp5"
        },
        {
          "symbol": "AQP6",
          "ensemblId": "ENSG00000086159",
          "biotype": "protein_coding",
          "start": 49967194,
          "end": 49977152,
          "strand": "+",
          "slug": "aqp6"
        },
        {
          "symbol": "RACGAP1",
          "ensemblId": "ENSG00000161800",
          "biotype": "protein_coding",
          "start": 49976923,
          "end": 50033136,
          "strand": "-",
          "slug": "racgap1"
        },
        {
          "symbol": "ASIC1",
          "ensemblId": "ENSG00000110881",
          "biotype": "protein_coding",
          "start": 50057351,
          "end": 50083621,
          "strand": "+",
          "slug": "asic1"
        },
        {
          "symbol": "SMARCD1",
          "ensemblId": "ENSG00000066117",
          "biotype": "protein_coding",
          "start": 50085196,
          "end": 50101870,
          "strand": "+",
          "slug": "smarcd1"
        },
        {
          "symbol": "GPD1",
          "ensemblId": "ENSG00000167588",
          "biotype": "protein_coding",
          "start": 50103982,
          "end": 50129648,
          "strand": "+",
          "slug": "gpd1"
        },
        {
          "symbol": "COX14",
          "ensemblId": "ENSG00000178449",
          "biotype": "protein_coding",
          "start": 50111982,
          "end": 50120463,
          "strand": "+",
          "slug": "cox14"
        },
        {
          "symbol": "CERS5",
          "ensemblId": "ENSG00000139624",
          "biotype": "protein_coding",
          "start": 50129289,
          "end": 50167533,
          "strand": "-",
          "slug": "cers5"
        },
        {
          "symbol": "LIMA1",
          "ensemblId": "ENSG00000050405",
          "biotype": "protein_coding",
          "start": 50175788,
          "end": 50283550,
          "strand": "-",
          "slug": "lima1"
        },
        {
          "symbol": "FAM186A",
          "ensemblId": "ENSG00000185958",
          "biotype": "protein_coding",
          "start": 50326230,
          "end": 50396622,
          "strand": "-",
          "slug": "fam186a"
        },
        {
          "symbol": "LARP4",
          "ensemblId": "ENSG00000161813",
          "biotype": "protein_coding",
          "start": 50392383,
          "end": 50480007,
          "strand": "+",
          "slug": "larp4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephrogenic-diabetes-insipidus",
        "name": "Nephrogenic Diabetes Insipidus",
        "diseases": [
          {
            "mondoId": "MONDO:0016383",
            "name": "Nephrogenic Diabetes Insipidus",
            "genes": 2,
            "inheritance": null,
            "description": "An inability of the kidneys to concentrate urine, most often X-linked (AVPR2) and less often autosomal (AQP2), presenting with excessive thirst, urination and dehydration from infancy.",
            "management": "Early diagnosis helps prevent dangerous dehydration and high sodium in infancy, and treatment with diet, thiazides or anti-inflammatory drugs can reduce urine output.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/nephrogenic-diabetes-insipidus"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "enuresis-nocturna",
        "name": "Enuresis nocturna",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/enuresis-nocturna"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "functional-abnormality-of-the-bladder",
        "name": "Functional abnormality of the bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/functional-abnormality-of-the-bladder"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypernatremia",
        "name": "High blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypernatremia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hypernatremic-dehydration",
        "name": "Hypernatremic dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypernatremic-dehydration"
      },
      {
        "slug": "hypertonic-dehydration",
        "name": "Hypertonic dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypertonic-dehydration"
      },
      {
        "slug": "hyposthenuria",
        "name": "Hyposthenuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyposthenuria"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "megacystis",
        "name": "Megacystis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/megacystis"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "nephrogenic-diabetes-insipidus",
        "name": "Nephrogenic diabetes insipidus",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrogenic-diabetes-insipidus"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "unexplained-fevers",
        "name": "Unexplained fevers",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/unexplained-fevers"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "avpr2",
        "symbol": "AVPR2",
        "name": "arginine vasopressin receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/avpr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}