{
  "url": "https://dantelabs.com/no/genes/otoa",
  "gene": {
    "slug": "otoa",
    "symbol": "OTOA",
    "name": "otoancorin",
    "hgnc": "HGNC:16378",
    "summary": null,
    "location": "16p12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CT108"
    ],
    "previousSymbols": [
      "DFNB22"
    ],
    "ensemblId": "ENSG00000155719",
    "entrezId": 146183,
    "omim": [
      "607038"
    ],
    "uniprot": [
      "Q7RTW8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 21663968,
      "end": 21760729,
      "strand": "+",
      "ensemblTranscript": "ENST00000646100.2",
      "refseqTranscript": "NM_144672.4",
      "ensemblProtein": "ENSP00000496564.2",
      "refseqProtein": "NP_653273.3",
      "exons": [
        {
          "start": 21663968,
          "end": 21664232
        },
        {
          "start": 21678511,
          "end": 21678605
        },
        {
          "start": 21678915,
          "end": 21678943
        },
        {
          "start": 21679036,
          "end": 21679066
        },
        {
          "start": 21679184,
          "end": 21679211
        },
        {
          "start": 21681738,
          "end": 21681825
        },
        {
          "start": 21685230,
          "end": 21685361
        },
        {
          "start": 21687413,
          "end": 21687648
        },
        {
          "start": 21691584,
          "end": 21691687
        },
        {
          "start": 21697775,
          "end": 21697875
        },
        {
          "start": 21700888,
          "end": 21701027
        },
        {
          "start": 21705169,
          "end": 21705292
        },
        {
          "start": 21709888,
          "end": 21710103
        },
        {
          "start": 21714985,
          "end": 21715152
        },
        {
          "start": 21716907,
          "end": 21717047
        },
        {
          "start": 21719133,
          "end": 21719191
        },
        {
          "start": 21719387,
          "end": 21719504
        },
        {
          "start": 21722905,
          "end": 21722978
        },
        {
          "start": 21726523,
          "end": 21726658
        },
        {
          "start": 21728241,
          "end": 21728431
        },
        {
          "start": 21730837,
          "end": 21730930
        },
        {
          "start": 21736261,
          "end": 21736390
        },
        {
          "start": 21740721,
          "end": 21740908
        },
        {
          "start": 21744881,
          "end": 21745036
        },
        {
          "start": 21751935,
          "end": 21752077
        },
        {
          "start": 21752369,
          "end": 21752505
        },
        {
          "start": 21753027,
          "end": 21753124
        },
        {
          "start": 21757082,
          "end": 21757277
        },
        {
          "start": 21760470,
          "end": 21760729
        }
      ],
      "cds": {
        "start": 21678515,
        "end": 21760540
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 21689835,
      "end": 21772050,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 21212349,
      "end": 22212348,
      "genes": [
        {
          "symbol": "ZP2",
          "ensemblId": "ENSG00000103310",
          "biotype": "protein_coding",
          "start": 21197450,
          "end": 21214510,
          "strand": "-",
          "slug": "zp2"
        },
        {
          "symbol": "ANKS4B",
          "ensemblId": "ENSG00000175311",
          "biotype": "protein_coding",
          "start": 21233673,
          "end": 21253850,
          "strand": "+",
          "slug": "anks4b"
        },
        {
          "symbol": "CRYM",
          "ensemblId": "ENSG00000103316",
          "biotype": "protein_coding",
          "start": 21238297,
          "end": 21303083,
          "strand": "-",
          "slug": "crym"
        },
        {
          "symbol": "NPIPB3",
          "ensemblId": "ENSG00000169246",
          "biotype": "protein_coding",
          "start": 21402237,
          "end": 21448567,
          "strand": "-",
          "slug": "npipb3"
        },
        {
          "symbol": "METTL9",
          "ensemblId": "ENSG00000197006",
          "biotype": "protein_coding",
          "start": 21597218,
          "end": 21657471,
          "strand": "+",
          "slug": "mettl9"
        },
        {
          "symbol": "IGSF6",
          "ensemblId": "ENSG00000140749",
          "biotype": "protein_coding",
          "start": 21639550,
          "end": 21652638,
          "strand": "-",
          "slug": "igsf6"
        },
        {
          "symbol": "NPIPB4",
          "ensemblId": "ENSG00000185864",
          "biotype": "protein_coding",
          "start": 21834563,
          "end": 21880827,
          "strand": "-",
          "slug": "npipb4"
        },
        {
          "symbol": "UQCRC2",
          "ensemblId": "ENSG00000140740",
          "biotype": "protein_coding",
          "start": 21952636,
          "end": 21990814,
          "strand": "+",
          "slug": "uqcrc2"
        },
        {
          "symbol": "PDZD9",
          "ensemblId": "ENSG00000155714",
          "biotype": "protein_coding",
          "start": 21983865,
          "end": 22001116,
          "strand": "-",
          "slug": "pdzd9"
        },
        {
          "symbol": "MOSMO",
          "ensemblId": "ENSG00000185716",
          "biotype": "protein_coding",
          "start": 22007638,
          "end": 22087534,
          "strand": "+",
          "slug": "mosmo"
        },
        {
          "symbol": "VWA3A",
          "ensemblId": "ENSG00000175267",
          "biotype": "protein_coding",
          "start": 22092508,
          "end": 22156964,
          "strand": "+",
          "slug": "vwa3a"
        },
        {
          "symbol": "SDR42E2",
          "ensemblId": "ENSG00000183921",
          "biotype": "protein_coding",
          "start": 22162492,
          "end": 22192208,
          "strand": "+",
          "slug": "sdr42e2"
        },
        {
          "symbol": "EEF2K",
          "ensemblId": "ENSG00000103319",
          "biotype": "protein_coding",
          "start": 22206252,
          "end": 22288738,
          "strand": "+",
          "slug": "eef2k"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hørselstap og døvhet",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Ikke-syndromisk genetisk hørselstap",
            "genes": 97,
            "inheritance": null,
            "description": "Arvelig hørselstap uten andre medisinske trekk, inkludert de vanlige recessive formene forårsaket av GJB2, OTOF, SLC26A4, STRC og mange andre gener, samt dominante, X-bundne og mitokondrielle former.",
            "management": "Kunnskap om den genetiske årsaken kan veilede valg av hørselshjelpemidler og cochleaimplantat, vurdering av om du kan delta i genterapistudier (for eksempel OTOF), og familieveiledning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}