{
  "url": "https://dantelabs.com/hu/genes/serpinb6",
  "gene": {
    "slug": "serpinb6",
    "symbol": "SERPINB6",
    "name": "serpin family B member 6",
    "hgnc": "HGNC:8950",
    "summary": null,
    "location": "6p25.2",
    "locusType": "gene with protein product",
    "aliases": [
      "PTI",
      "CAP"
    ],
    "previousSymbols": [
      "PI6",
      "DFNB91"
    ],
    "ensemblId": "ENSG00000124570",
    "entrezId": 5269,
    "omim": [
      "173321"
    ],
    "uniprot": [
      "P35237"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 2948159,
      "end": 2971567,
      "strand": "-",
      "ensemblTranscript": "ENST00000380539.7",
      "refseqTranscript": "NM_004568.6",
      "ensemblProtein": "ENSP00000369912.2",
      "refseqProtein": "NP_004559.4",
      "exons": [
        {
          "start": 2948159,
          "end": 2948699
        },
        {
          "start": 2948914,
          "end": 2949069
        },
        {
          "start": 2953044,
          "end": 2953186
        },
        {
          "start": 2954592,
          "end": 2954709
        },
        {
          "start": 2955524,
          "end": 2955670
        },
        {
          "start": 2959168,
          "end": 2959342
        },
        {
          "start": 2971533,
          "end": 2971567
        }
      ],
      "cds": {
        "start": 2948298,
        "end": 2959332
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 2948393,
      "end": 2972090,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2459863,
      "end": 3459862,
      "genes": [
        {
          "symbol": "MYLK4",
          "ensemblId": "ENSG00000145949",
          "biotype": "protein_coding",
          "start": 2663629,
          "end": 2770381,
          "strand": "-",
          "slug": "mylk4"
        },
        {
          "symbol": "WRNIP1",
          "ensemblId": "ENSG00000124535",
          "biotype": "protein_coding",
          "start": 2765323,
          "end": 2791517,
          "strand": "+",
          "slug": "wrnip1"
        },
        {
          "symbol": "SERPINB1",
          "ensemblId": "ENSG00000021355",
          "biotype": "protein_coding",
          "start": 2832332,
          "end": 2842035,
          "strand": "-",
          "slug": "serpinb1"
        },
        {
          "symbol": "SERPINB9",
          "ensemblId": "ENSG00000170542",
          "biotype": "protein_coding",
          "start": 2887169,
          "end": 2903318,
          "strand": "-",
          "slug": "serpinb9"
        },
        {
          "symbol": "NQO2",
          "ensemblId": "ENSG00000124588",
          "biotype": "protein_coding",
          "start": 2987987,
          "end": 3022745,
          "strand": "+",
          "slug": "nqo2"
        },
        {
          "symbol": "RIPK1",
          "ensemblId": "ENSG00000137275",
          "biotype": "protein_coding",
          "start": 3063824,
          "end": 3115188,
          "strand": "+",
          "slug": "ripk1"
        },
        {
          "symbol": "BPHL",
          "ensemblId": "ENSG00000137274",
          "biotype": "protein_coding",
          "start": 3118374,
          "end": 3153661,
          "strand": "+",
          "slug": "bphl"
        },
        {
          "symbol": "TUBB2A",
          "ensemblId": "ENSG00000137267",
          "biotype": "protein_coding",
          "start": 3153497,
          "end": 3157553,
          "strand": "-",
          "slug": "tubb2a"
        },
        {
          "symbol": "TUBB2B",
          "ensemblId": "ENSG00000137285",
          "biotype": "protein_coding",
          "start": 3223324,
          "end": 3231730,
          "strand": "-",
          "slug": "tubb2b"
        },
        {
          "symbol": "PSMG4",
          "ensemblId": "ENSG00000180822",
          "biotype": "protein_coding",
          "start": 3231403,
          "end": 3304360,
          "strand": "+",
          "slug": "psmg4"
        },
        {
          "symbol": "SLC22A23",
          "ensemblId": "ENSG00000137266",
          "biotype": "protein_coding",
          "start": 3268962,
          "end": 3457100,
          "strand": "-",
          "slug": "slc22a23"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hearing Loss and Deafness",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Nonsyndromic Genetic Hearing Loss",
            "genes": 97,
            "inheritance": null,
            "description": "Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.",
            "management": "Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "progressive-hearing-impairment",
        "name": "Progressive hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/progressive-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}