{
  "url": "https://dantelabs.com/nl/genes/pou4f3",
  "gene": {
    "slug": "pou4f3",
    "symbol": "POU4F3",
    "name": "POU class 4 homeobox 3",
    "hgnc": "HGNC:9220",
    "summary": null,
    "location": "5q32",
    "locusType": "gene with protein product",
    "aliases": [
      "BRN3C"
    ],
    "previousSymbols": [
      "DFNA15",
      "DFNA52",
      "DFNA42"
    ],
    "ensemblId": "ENSG00000091010",
    "entrezId": 5459,
    "omim": [
      "602460"
    ],
    "uniprot": [
      "Q15319"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 146338839,
      "end": 146341728,
      "strand": "+",
      "ensemblTranscript": "ENST00000646991.2",
      "refseqTranscript": "NM_002700.3",
      "ensemblProtein": "ENSP00000495718.1",
      "refseqProtein": "NP_002691.1",
      "exons": [
        {
          "start": 146338839,
          "end": 146339232
        },
        {
          "start": 146339548,
          "end": 146341728
        }
      ],
      "cds": {
        "start": 146339113,
        "end": 146340444
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 145718587,
      "end": 145720083,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 145840284,
      "end": 146840283,
      "genes": [
        {
          "symbol": "GRXCR2",
          "ensemblId": "ENSG00000204928",
          "biotype": "protein_coding",
          "start": 145858521,
          "end": 145937126,
          "strand": "-",
          "slug": "grxcr2"
        },
        {
          "symbol": "SH3RF2",
          "ensemblId": "ENSG00000156463",
          "biotype": "protein_coding",
          "start": 145936425,
          "end": 146085976,
          "strand": "+",
          "slug": "sh3rf2"
        },
        {
          "symbol": "PLAC8L1",
          "ensemblId": "ENSG00000173261",
          "biotype": "protein_coding",
          "start": 146084313,
          "end": 146106205,
          "strand": "-",
          "slug": "plac8l1"
        },
        {
          "symbol": "LARS1",
          "ensemblId": "ENSG00000133706",
          "biotype": "protein_coding",
          "start": 146110566,
          "end": 146182696,
          "strand": "-",
          "slug": "lars1"
        },
        {
          "symbol": "RBM27",
          "ensemblId": "ENSG00000091009",
          "biotype": "protein_coding",
          "start": 146203550,
          "end": 146289462,
          "strand": "+",
          "slug": "rbm27"
        },
        {
          "symbol": "RBM27-POU4F3",
          "ensemblId": "ENSG00000275740",
          "biotype": "protein_coding",
          "start": 146203550,
          "end": 146339251,
          "strand": "+",
          "slug": "rbm27-pou4f3"
        },
        {
          "symbol": "TCERG1",
          "ensemblId": "ENSG00000113649",
          "biotype": "protein_coding",
          "start": 146447311,
          "end": 146511963,
          "strand": "+",
          "slug": "tcerg1"
        },
        {
          "symbol": "GPR151",
          "ensemblId": "ENSG00000173250",
          "biotype": "protein_coding",
          "start": 146513144,
          "end": 146516190,
          "strand": "-",
          "slug": "gpr151"
        },
        {
          "symbol": "PPP2R2B",
          "ensemblId": "ENSG00000156475",
          "biotype": "protein_coding",
          "start": 146580742,
          "end": 147084784,
          "strand": "-",
          "slug": "ppp2r2b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Gehoorverlies en doofheid",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Autosomaal dominant niet-syndromaal gehoorverlies",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Autosomaal dominante vorm van niet-syndromale doofheid.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Niet-syndromale erfelijke gehoorstoornis",
            "genes": 97,
            "inheritance": null,
            "description": "Erfelijk gehoorverlies zonder andere medische kenmerken, inclusief de veelvoorkomende recessieve vormen veroorzaakt door GJB2, OTOF, SLC26A4, STRC en vele andere genen, evenals dominante, X-gebonden en mitochondriale vormen.",
            "management": "Het kennen van de genetische oorzaak kan helpen bij keuzes rond gehoorondersteuning en cochleaire implantaten, bij de geschiktheid voor deelname aan onderzoeken naar genetherapie (bijvoorbeeld bij OTOF) en bij erfelijkheidsadvies voor familieleden.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/gjb6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}