{
  "url": "https://dantelabs.com/hu/genes/aqp5",
  "gene": {
    "slug": "aqp5",
    "symbol": "AQP5",
    "name": "aquaporin 5",
    "hgnc": "HGNC:638",
    "summary": null,
    "location": "12q13.12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000161798",
    "entrezId": 362,
    "omim": [
      "600442"
    ],
    "uniprot": [
      "P55064"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 49961872,
      "end": 49965682,
      "strand": "+",
      "ensemblTranscript": "ENST00000293599.7",
      "refseqTranscript": "NM_001651.4",
      "ensemblProtein": "ENSP00000293599.5",
      "refseqProtein": "NP_001642.1",
      "exons": [
        {
          "start": 49961872,
          "end": 49962380
        },
        {
          "start": 49963492,
          "end": 49963656
        },
        {
          "start": 49964092,
          "end": 49964175
        },
        {
          "start": 49964992,
          "end": 49965682
        }
      ],
      "cds": {
        "start": 49962018,
        "end": 49965177
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 50355653,
      "end": 50359464,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49463777,
      "end": 50463776,
      "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": "AQP2",
          "ensemblId": "ENSG00000167580",
          "biotype": "protein_coding",
          "start": 49950736,
          "end": 49958881,
          "strand": "+",
          "slug": "aqp2"
        },
        {
          "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": "hereditary-palmoplantar-keratodermas",
        "name": "Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Hereditary palmoplantar keratoderma",
            "genes": 35,
            "inheritance": null,
            "description": "Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.",
            "management": "Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hereditary-palmoplantar-keratodermas"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "chronic-tinea-infection",
        "name": "Chronic tinea infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-tinea-infection"
      },
      {
        "slug": "diffuse-palmoplantar-hyperkeratosis",
        "name": "Diffuse palmoplantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diffuse-palmoplantar-hyperkeratosis"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "ridged-nail",
        "name": "Grooved nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ridged-nail"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "knuckle-pad",
        "name": "Knuckle pad",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knuckle-pad"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "papule",
        "name": "Papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/papule"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythema"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aagab"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ap1b1"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ctsc"
      },
      {
        "slug": "dsg1",
        "symbol": "DSG1",
        "name": "desmoglein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dsg1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dsp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "name": "gap junction protein alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gja1"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gjb2"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "name": "gap junction protein beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gjb3"
      },
      {
        "slug": "gjb4",
        "symbol": "GJB4",
        "name": "gap junction protein beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gjb4"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gjb6"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/grhl2"
      },
      {
        "slug": "kdsr",
        "symbol": "KDSR",
        "name": "3-ketodihydrosphingosine reductase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kdsr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}