{
  "url": "https://dantelabs.com/ko/genes/epas1",
  "gene": {
    "slug": "epas1",
    "symbol": "EPAS1",
    "name": "endothelial PAS domain protein 1",
    "hgnc": "HGNC:3374",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
      "MOP2",
      "PASD2",
      "HIF2A",
      "HLF",
      "bHLHe73"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116016",
    "entrezId": 2034,
    "omim": [
      "603349"
    ],
    "uniprot": [
      "Q99814"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 46297407,
      "end": 46386697,
      "strand": "+",
      "ensemblTranscript": "ENST00000263734.5",
      "refseqTranscript": "NM_001430.5",
      "ensemblProtein": "ENSP00000263734.3",
      "refseqProtein": "NP_001421.2",
      "exons": [
        {
          "start": 46297407,
          "end": 46297937
        },
        {
          "start": 46346873,
          "end": 46347063
        },
        {
          "start": 46356151,
          "end": 46356302
        },
        {
          "start": 46356724,
          "end": 46356808
        },
        {
          "start": 46360638,
          "end": 46360756
        },
        {
          "start": 46360885,
          "end": 46361090
        },
        {
          "start": 46369827,
          "end": 46369933
        },
        {
          "start": 46375690,
          "end": 46375837
        },
        {
          "start": 46376539,
          "end": 46376753
        },
        {
          "start": 46377894,
          "end": 46378087
        },
        {
          "start": 46378657,
          "end": 46378767
        },
        {
          "start": 46380227,
          "end": 46380717
        },
        {
          "start": 46381596,
          "end": 46381722
        },
        {
          "start": 46381975,
          "end": 46382089
        },
        {
          "start": 46382425,
          "end": 46382598
        },
        {
          "start": 46384509,
          "end": 46386697
        }
      ],
      "cds": {
        "start": 46297912,
        "end": 46384660
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 46520806,
      "end": 46613836,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 45842052,
      "end": 46842051,
      "genes": [
        {
          "symbol": "PRKCE",
          "ensemblId": "ENSG00000171132",
          "biotype": "protein_coding",
          "start": 45651096,
          "end": 46187990,
          "strand": "+",
          "slug": "prkce"
        },
        {
          "symbol": "TMEM247",
          "ensemblId": "ENSG00000284701",
          "biotype": "protein_coding",
          "start": 46479565,
          "end": 46484425,
          "strand": "+",
          "slug": "tmem247"
        },
        {
          "symbol": "ATP6V1E2",
          "ensemblId": "ENSG00000250565",
          "biotype": "protein_coding",
          "start": 46490750,
          "end": 46543287,
          "strand": "-",
          "slug": "atp6v1e2"
        },
        {
          "symbol": "RHOQ",
          "ensemblId": "ENSG00000119729",
          "biotype": "protein_coding",
          "start": 46541806,
          "end": 46602046,
          "strand": "+",
          "slug": "rhoq"
        },
        {
          "symbol": "PIGF",
          "ensemblId": "ENSG00000151665",
          "biotype": "protein_coding",
          "start": 46580937,
          "end": 46617067,
          "strand": "-",
          "slug": "pigf"
        },
        {
          "symbol": "CRIPT",
          "ensemblId": "ENSG00000119878",
          "biotype": "protein_coding",
          "start": 46616416,
          "end": 46685037,
          "strand": "+",
          "slug": "cript"
        },
        {
          "symbol": "SOCS5",
          "ensemblId": "ENSG00000171150",
          "biotype": "protein_coding",
          "start": 46698423,
          "end": 46781466,
          "strand": "+",
          "slug": "socs5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "polycythemia",
        "name": "多血症",
        "diseases": [
          {
            "mondoId": "MONDO:0012729",
            "name": "가족성 적혈구증가증 4형 (EPAS1)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "EPAS1(HIF-2 alpha)의 기능 획득성 변이로 인해 적혈구 생성이 증가하는, 우성 유전 방식의 유전성 적혈구증가증입니다.",
            "management": "유전적 원인을 알면 진성 적혈구증가증(polycythaemia vera)이나 기타 후천성 원인으로 잘못 판단되는 것을 피할 수 있고, 불필요한 검사를 줄일 수 있습니다.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/polycythemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-mass",
        "name": "Abdominal mass",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-mass"
      },
      {
        "slug": "adrenal-pheochromocytoma",
        "name": "Adrenal pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/adrenal-pheochromocytoma"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "deep-venous-thrombosis",
        "name": "Blood clot in a deep vein",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deep-venous-thrombosis"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "cranial-nerve-compression",
        "name": "Cranial nerve compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranial-nerve-compression"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-erythropoietin-concentration",
        "name": "Elevated circulating erythropoietin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-erythropoietin-concentration"
      },
      {
        "slug": "elevated-urinary-dopamine-level",
        "name": "Elevated urinary dopamine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dopamine-level"
      },
      {
        "slug": "elevated-urinary-epinephrine-level",
        "name": "Elevated urinary epinephrine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-epinephrine-level"
      },
      {
        "slug": "elevated-urinary-norepinephrine-level",
        "name": "Elevated urinary norepinephrine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-norepinephrine-level"
      },
      {
        "slug": "episodic-paroxysmal-anxiety",
        "name": "Episodic paroxysmal anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-paroxysmal-anxiety"
      },
      {
        "slug": "extraadrenal-pheochromocytoma",
        "name": "Extraadrenal pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/extraadrenal-pheochromocytoma"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "flushing",
        "name": "Flushing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flushing"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypertension-associated-with-pheochromocytoma",
        "name": "Hypertension associated with pheochromocytoma",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension-associated-with-pheochromocytoma"
      },
      {
        "slug": "hypertensive-crisis",
        "name": "Hypertensive crisis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertensive-crisis"
      },
      {
        "slug": "hypertensive-retinopathy",
        "name": "Hypertensive retinopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertensive-retinopathy"
      },
      {
        "slug": "vocal-cord-paralysis",
        "name": "Inability to move vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vocal-cord-paralysis"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "increased-circulating-hemoglobin-concentration",
        "name": "Increased circulating hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-hemoglobin-concentration"
      },
      {
        "slug": "increased-hematocrit",
        "name": "Increased hematocrit",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-hematocrit"
      },
      {
        "slug": "polycythemia",
        "name": "Increased red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polycythemia"
      },
      {
        "slug": "myocarditis",
        "name": "Inflammation of heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocarditis"
      },
      {
        "slug": "episodic-abdominal-pain",
        "name": "Intermittent abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-abdominal-pain"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "mesenteric-venous-thrombosis",
        "name": "Mesenteric venous thrombosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mesenteric-venous-thrombosis"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "paraganglioma",
        "name": "Paraganglioma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paraganglioma"
      },
      {
        "slug": "paraganglioma-of-head-and-neck",
        "name": "Paraganglioma of head and neck",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paraganglioma-of-head-and-neck"
      },
      {
        "slug": "paroxysmal-vertigo",
        "name": "Paroxysmal vertigo",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-vertigo"
      },
      {
        "slug": "positive-regitine-blocking-test",
        "name": "Positive regitine blocking test",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/positive-regitine-blocking-test"
      },
      {
        "slug": "pulsatile-tinnitus",
        "name": "Pulsatile tinnitus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulsatile-tinnitus"
      },
      {
        "slug": "recurrent-paroxysmal-headache",
        "name": "Recurrent paroxysmal headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-paroxysmal-headache"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "sinus-tachycardia",
        "name": "Sinus tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sinus-tachycardia"
      },
      {
        "slug": "episodic-hyperhidrosis",
        "name": "Sporadic excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-hyperhidrosis"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}