{
  "url": "https://dantelabs.com/pl/genes/exph5",
  "gene": {
    "slug": "exph5",
    "symbol": "EXPH5",
    "name": "exophilin 5",
    "hgnc": "HGNC:30578",
    "summary": null,
    "location": "11q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SLAC2-B"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110723",
    "entrezId": 23086,
    "omim": [
      "612878"
    ],
    "uniprot": [
      "Q8NEV8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 108505435,
      "end": 108593768,
      "strand": "-",
      "ensemblTranscript": "ENST00000265843.9",
      "refseqTranscript": "NM_015065.3",
      "ensemblProtein": "ENSP00000265843.4",
      "refseqProtein": "NP_055880.2",
      "exons": [
        {
          "start": 108505435,
          "end": 108514875
        },
        {
          "start": 108518235,
          "end": 108518373
        },
        {
          "start": 108528136,
          "end": 108528184
        },
        {
          "start": 108539024,
          "end": 108539186
        },
        {
          "start": 108541652,
          "end": 108541812
        },
        {
          "start": 108593418,
          "end": 108593768
        }
      ],
      "cds": {
        "start": 108509537,
        "end": 108593536
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 108376158,
      "end": 108464465,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 108049602,
      "end": 109049601,
      "genes": [
        {
          "symbol": "CUL5",
          "ensemblId": "ENSG00000166266",
          "biotype": "protein_coding",
          "start": 108008821,
          "end": 108107781,
          "strand": "+",
          "slug": "cul5"
        },
        {
          "symbol": "ACAT1",
          "ensemblId": "ENSG00000075239",
          "biotype": "protein_coding",
          "start": 108116695,
          "end": 108148957,
          "strand": "+",
          "slug": "acat1"
        },
        {
          "symbol": "NPAT",
          "ensemblId": "ENSG00000149308",
          "biotype": "protein_coding",
          "start": 108155267,
          "end": 108222659,
          "strand": "-",
          "slug": "npat"
        },
        {
          "symbol": "ATM",
          "ensemblId": "ENSG00000149311",
          "biotype": "protein_coding",
          "start": 108222788,
          "end": 108369102,
          "strand": "+",
          "slug": "atm"
        },
        {
          "symbol": "C11orf65",
          "ensemblId": "ENSG00000166323",
          "biotype": "protein_coding",
          "start": 108308519,
          "end": 108467536,
          "strand": "-",
          "slug": "c11orf65"
        },
        {
          "symbol": "POGLUT3",
          "ensemblId": "ENSG00000178202",
          "biotype": "protein_coding",
          "start": 108472106,
          "end": 108498603,
          "strand": "-",
          "slug": "poglut3"
        },
        {
          "symbol": "DDX10",
          "ensemblId": "ENSG00000178105",
          "biotype": "protein_coding",
          "start": 108665053,
          "end": 108940999,
          "strand": "+",
          "slug": "ddx10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epidermolysis-bullosa",
        "name": "Pęcherzyca (epidermolysis bullosa)",
        "diseases": [
          {
            "mondoId": "MONDO:0019276",
            "name": "Dziedziczna pęcherzowa odklejająca się skóry (epidermolysis bullosa)",
            "genes": 19,
            "inheritance": null,
            "description": "Wszystkie dziedziczne postacie kruchości skóry z tworzeniem pęcherzy, w tym pęcherzowa odklejająca się skóry postaci prostej (simplex), złączeniowej (junctional) i dystroficznej (dystrophic) oraz zespół Kindlera.",
            "management": "Recesywne postacie dystroficzne wymagają regularnej kontroli w kierunku raka skóry, a dla dystroficznej postaci EB dostępna jest obecnie terapia ran oparta na genach.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/epidermolysis-bullosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "fragile-skin",
        "name": "Fragile skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fragile-skin"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      }
    ],
    "related": [
      {
        "slug": "cd151",
        "symbol": "CD151",
        "name": "CD151 molecule (Raph blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/cd151"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col17a1"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "name": "collagen type VII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/col7a1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dsp"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dst"
      },
      {
        "slug": "fermt1",
        "symbol": "FERMT1",
        "name": "FERM domain containing kindlin 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/fermt1"
      },
      {
        "slug": "itga3",
        "symbol": "ITGA3",
        "name": "integrin subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/itga3"
      },
      {
        "slug": "itga6",
        "symbol": "ITGA6",
        "name": "integrin subunit alpha 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/itga6"
      },
      {
        "slug": "itgb4",
        "symbol": "ITGB4",
        "name": "integrin subunit beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/itgb4"
      },
      {
        "slug": "jup",
        "symbol": "JUP",
        "name": "junction plakoglobin",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/jup"
      },
      {
        "slug": "klhl24",
        "symbol": "KLHL24",
        "name": "kelch like family member 24",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/klhl24"
      },
      {
        "slug": "krt14",
        "symbol": "KRT14",
        "name": "keratin 14",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/krt14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}