{
  "url": "https://dantelabs.com/ko/genes/pjvk",
  "gene": {
    "slug": "pjvk",
    "symbol": "PJVK",
    "name": "pejvakin",
    "hgnc": "HGNC:29502",
    "summary": null,
    "location": "2q31.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "DFNB59"
    ],
    "ensemblId": "ENSG00000204311",
    "entrezId": 494513,
    "omim": [
      "610219"
    ],
    "uniprot": [
      "Q0ZLH3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 178451378,
      "end": 178462102,
      "strand": "+",
      "ensemblTranscript": "ENST00000644580.2",
      "refseqTranscript": "NM_001042702.5",
      "ensemblProtein": "ENSP00000495855.2",
      "refseqProtein": "NP_001036167.1",
      "exons": [
        {
          "start": 178451378,
          "end": 178451769
        },
        {
          "start": 178453388,
          "end": 178453620
        },
        {
          "start": 178454332,
          "end": 178454527
        },
        {
          "start": 178456010,
          "end": 178456151
        },
        {
          "start": 178458510,
          "end": 178458627
        },
        {
          "start": 178460348,
          "end": 178460446
        },
        {
          "start": 178460982,
          "end": 178462102
        }
      ],
      "cds": {
        "start": 178453410,
        "end": 178461274
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 179316163,
      "end": 179326117,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 177956740,
      "end": 178956739,
      "genes": [
        {
          "symbol": "PDE11A",
          "ensemblId": "ENSG00000128655",
          "biotype": "protein_coding",
          "start": 177623244,
          "end": 178108339,
          "strand": "-",
          "slug": "pde11a"
        },
        {
          "symbol": "RBM45",
          "ensemblId": "ENSG00000155636",
          "biotype": "protein_coding",
          "start": 178112384,
          "end": 178139011,
          "strand": "+",
          "slug": "rbm45"
        },
        {
          "symbol": "OSBPL6",
          "ensemblId": "ENSG00000079156",
          "biotype": "protein_coding",
          "start": 178193711,
          "end": 178402893,
          "strand": "+",
          "slug": "osbpl6"
        },
        {
          "symbol": "PRKRA",
          "ensemblId": "ENSG00000180228",
          "biotype": "protein_coding",
          "start": 178431292,
          "end": 178451512,
          "strand": "-",
          "slug": "prkra"
        },
        {
          "symbol": "FKBP7",
          "ensemblId": "ENSG00000079150",
          "biotype": "protein_coding",
          "start": 178463664,
          "end": 178478604,
          "strand": "-",
          "slug": "fkbp7"
        },
        {
          "symbol": "PLEKHA3",
          "ensemblId": "ENSG00000116095",
          "biotype": "protein_coding",
          "start": 178480347,
          "end": 178516463,
          "strand": "+",
          "slug": "plekha3"
        },
        {
          "symbol": "TTN",
          "ensemblId": "ENSG00000155657",
          "biotype": "protein_coding",
          "start": 178525989,
          "end": 178830802,
          "strand": "-",
          "slug": "ttn"
        },
        {
          "symbol": "CCDC141",
          "ensemblId": "ENSG00000163492",
          "biotype": "protein_coding",
          "start": 178829757,
          "end": 179051697,
          "strand": "-",
          "slug": "ccdc141"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "청력 손실과 난청",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "비증후군성 유전성 청력 손실",
            "genes": 97,
            "inheritance": null,
            "description": "다른 의학적 특징 없이 나타나는 유전성 청력 손실로, GJB2, OTOF, SLC26A4, STRC 및 기타 여러 유전자에 의해 발생하는 흔한 열성 유형과 우성, X연관 및 미토콘드리아 유형을 포함합니다.",
            "management": "유전적 원인을 알면 청력 지원 및 인공와우 이식 결정, 유전자 치료 임상시험 참여 자격(예: OTOF), 가족 상담에 도움이 될 수 있습니다.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ko/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/ko/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}