{
  "url": "https://dantelabs.com/it/genes/gjb4",
  "gene": {
    "slug": "gjb4",
    "symbol": "GJB4",
    "name": "gap junction protein beta 4",
    "hgnc": "HGNC:4286",
    "summary": null,
    "location": "1p34.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CX30.3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000189433",
    "entrezId": 127534,
    "omim": [
      "605425"
    ],
    "uniprot": [
      "Q9NTQ9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 34759740,
      "end": 34762327,
      "strand": "+",
      "ensemblTranscript": "ENST00000339480.3",
      "refseqTranscript": "NM_153212.3",
      "ensemblProtein": "ENSP00000345868.1",
      "refseqProtein": "NP_694944.1",
      "exons": [
        {
          "start": 34759740,
          "end": 34759788
        },
        {
          "start": 34760933,
          "end": 34762327
        }
      ],
      "cds": {
        "start": 34761255,
        "end": 34762055
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 35225342,
      "end": 35229325,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 34261034,
      "end": 35261033,
      "genes": [
        {
          "symbol": "SMIM12",
          "ensemblId": "ENSG00000163866",
          "biotype": "protein_coding",
          "start": 34712737,
          "end": 34859830,
          "strand": "-",
          "slug": "smim12"
        },
        {
          "symbol": "GJB5",
          "ensemblId": "ENSG00000189280",
          "biotype": "protein_coding",
          "start": 34755013,
          "end": 34758512,
          "strand": "+",
          "slug": "gjb5"
        },
        {
          "symbol": "GJB3",
          "ensemblId": "ENSG00000188910",
          "biotype": "protein_coding",
          "start": 34781175,
          "end": 34786369,
          "strand": "+",
          "slug": "gjb3"
        },
        {
          "symbol": "GJA4",
          "ensemblId": "ENSG00000187513",
          "biotype": "protein_coding",
          "start": 34792992,
          "end": 34795756,
          "strand": "+",
          "slug": "gja4"
        },
        {
          "symbol": "DLGAP3",
          "ensemblId": "ENSG00000116544",
          "biotype": "protein_coding",
          "start": 34861407,
          "end": 34929664,
          "strand": "-",
          "slug": "dlgap3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284773",
          "biotype": "protein_coding",
          "start": 34974356,
          "end": 34985313,
          "strand": "-"
        },
        {
          "symbol": "TMEM35B",
          "ensemblId": "ENSG00000243749",
          "biotype": "protein_coding",
          "start": 34981380,
          "end": 34985350,
          "strand": "-",
          "slug": "tmem35b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000271741",
          "biotype": "protein_coding",
          "start": 34981533,
          "end": 35031741,
          "strand": "-"
        },
        {
          "symbol": "ZMYM6",
          "ensemblId": "ENSG00000163867",
          "biotype": "protein_coding",
          "start": 34986144,
          "end": 35031973,
          "strand": "-",
          "slug": "zmym6"
        },
        {
          "symbol": "ZMYM1",
          "ensemblId": "ENSG00000197056",
          "biotype": "protein_coding",
          "start": 35032172,
          "end": 35118818,
          "strand": "+",
          "slug": "zmym1"
        },
        {
          "symbol": "SFPQ",
          "ensemblId": "ENSG00000116560",
          "biotype": "protein_coding",
          "start": 35176378,
          "end": 35193446,
          "strand": "-",
          "slug": "sfpq"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "Cheratodermie palmoplantari ereditarie e pachionichia congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Cheratodermia palmoplantare ereditaria",
            "genes": 35,
            "inheritance": null,
            "description": "Ispessimento ereditario dei palmi e delle piante, comprendente la pachionichia congenita, la malattia di Meleda, le cheratodermie di tipo Nagashima e di tipo Bothnia, la sindrome cheratite-ittiosi-sordità e le sindromi di Papillon-Lefèvre e di Haim-Munk correlate a CTSC.",
            "management": "La diagnosi orienta la cura dei piedi e la gestione del dolore; per le forme correlate a CTSC, un trattamento odontoiatrico precoce protegge i denti, mentre le forme correlate a GJB2 richiedono un controllo dell'udito.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/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": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "abnormal-testis-morphology",
        "name": "Abnormality of the testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-testis-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "hypertrichosis",
        "name": "Excessive hair growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypertrichosis"
      },
      {
        "slug": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irregular-hyperpigmentation",
        "name": "Irregular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-hyperpigmentation"
      },
      {
        "slug": "patchy-palmoplantar-hyperkeratosis",
        "name": "Patchy palmoplantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patchy-palmoplantar-hyperkeratosis"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "skin-plaque",
        "name": "Skin plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-plaque"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tapered-finger"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/aagab"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ap1b1"
      },
      {
        "slug": "aqp5",
        "symbol": "AQP5",
        "name": "aquaporin 5",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/aqp5"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ctsc"
      },
      {
        "slug": "dsg1",
        "symbol": "DSG1",
        "name": "desmoglein 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dsg1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dsp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "name": "gap junction protein alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gja1"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gjb2"
      },
      {
        "slug": "gjb3",
        "symbol": "GJB3",
        "name": "gap junction protein beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gjb3"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gjb6"
      },
      {
        "slug": "grhl2",
        "symbol": "GRHL2",
        "name": "grainyhead like transcription factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/grhl2"
      },
      {
        "slug": "kdsr",
        "symbol": "KDSR",
        "name": "3-ketodihydrosphingosine reductase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/kdsr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}