{
  "url": "https://dantelabs.com/hu/genes/eno3",
  "gene": {
    "slug": "eno3",
    "symbol": "ENO3",
    "name": "enolase 3",
    "hgnc": "HGNC:3354",
    "summary": null,
    "location": "17p13.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108515",
    "entrezId": 2027,
    "omim": [
      "131370"
    ],
    "uniprot": [
      "P13929"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 4951119,
      "end": 4957129,
      "strand": "+",
      "ensemblTranscript": "ENST00000519602.6",
      "refseqTranscript": "NM_053013.4",
      "ensemblProtein": "ENSP00000430055.2",
      "refseqProtein": "NP_443739.3",
      "exons": [
        {
          "start": 4951119,
          "end": 4951182
        },
        {
          "start": 4951828,
          "end": 4951914
        },
        {
          "start": 4952795,
          "end": 4952890
        },
        {
          "start": 4953051,
          "end": 4953109
        },
        {
          "start": 4953272,
          "end": 4953341
        },
        {
          "start": 4953712,
          "end": 4953845
        },
        {
          "start": 4955075,
          "end": 4955297
        },
        {
          "start": 4955407,
          "end": 4955604
        },
        {
          "start": 4955942,
          "end": 4956143
        },
        {
          "start": 4956573,
          "end": 4956681
        },
        {
          "start": 4956831,
          "end": 4956889
        },
        {
          "start": 4956978,
          "end": 4957129
        }
      ],
      "cds": {
        "start": 4951830,
        "end": 4957047
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 4851387,
      "end": 4860426,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 4454124,
      "end": 5454123,
      "genes": [
        {
          "symbol": "SPNS3",
          "ensemblId": "ENSG00000182557",
          "biotype": "protein_coding",
          "start": 4433940,
          "end": 4488208,
          "strand": "+",
          "slug": "spns3"
        },
        {
          "symbol": "SPNS2",
          "ensemblId": "ENSG00000183018",
          "biotype": "protein_coding",
          "start": 4498839,
          "end": 4539036,
          "strand": "+",
          "slug": "spns2"
        },
        {
          "symbol": "MYBBP1A",
          "ensemblId": "ENSG00000132382",
          "biotype": "protein_coding",
          "start": 4538897,
          "end": 4555403,
          "strand": "-",
          "slug": "mybbp1a"
        },
        {
          "symbol": "GGT6",
          "ensemblId": "ENSG00000167741",
          "biotype": "protein_coding",
          "start": 4556342,
          "end": 4560818,
          "strand": "-",
          "slug": "ggt6"
        },
        {
          "symbol": "SMTNL2",
          "ensemblId": "ENSG00000188176",
          "biotype": "protein_coding",
          "start": 4583999,
          "end": 4608798,
          "strand": "+",
          "slug": "smtnl2"
        },
        {
          "symbol": "ALOX15",
          "ensemblId": "ENSG00000161905",
          "biotype": "protein_coding",
          "start": 4629736,
          "end": 4642294,
          "strand": "-",
          "slug": "alox15"
        },
        {
          "symbol": "PELP1",
          "ensemblId": "ENSG00000141456",
          "biotype": "protein_coding",
          "start": 4669774,
          "end": 4704337,
          "strand": "-",
          "slug": "pelp1"
        },
        {
          "symbol": "ARRB2",
          "ensemblId": "ENSG00000141480",
          "biotype": "protein_coding",
          "start": 4710393,
          "end": 4721500,
          "strand": "+",
          "slug": "arrb2"
        },
        {
          "symbol": "MED11",
          "ensemblId": "ENSG00000161920",
          "biotype": "protein_coding",
          "start": 4731411,
          "end": 4733610,
          "strand": "+",
          "slug": "med11"
        },
        {
          "symbol": "CXCL16",
          "ensemblId": "ENSG00000161921",
          "biotype": "protein_coding",
          "start": 4732915,
          "end": 4740064,
          "strand": "-",
          "slug": "cxcl16"
        },
        {
          "symbol": "ZMYND15",
          "ensemblId": "ENSG00000141497",
          "biotype": "protein_coding",
          "start": 4739108,
          "end": 4746119,
          "strand": "+",
          "slug": "zmynd15"
        },
        {
          "symbol": "TM4SF5",
          "ensemblId": "ENSG00000142484",
          "biotype": "protein_coding",
          "start": 4771835,
          "end": 4783220,
          "strand": "+",
          "slug": "tm4sf5"
        },
        {
          "symbol": "VMO1",
          "ensemblId": "ENSG00000182853",
          "biotype": "protein_coding",
          "start": 4785281,
          "end": 4790406,
          "strand": "-",
          "slug": "vmo1"
        },
        {
          "symbol": "GLTPD2",
          "ensemblId": "ENSG00000182327",
          "biotype": "protein_coding",
          "start": 4788927,
          "end": 4790734,
          "strand": "+",
          "slug": "gltpd2"
        },
        {
          "symbol": "PSMB6",
          "ensemblId": "ENSG00000142507",
          "biotype": "protein_coding",
          "start": 4796144,
          "end": 4798503,
          "strand": "+",
          "slug": "psmb6"
        },
        {
          "symbol": "C17orf114",
          "ensemblId": "ENSG00000262165",
          "biotype": "protein_coding",
          "start": 4801159,
          "end": 4807013,
          "strand": "-",
          "slug": "c17orf114"
        },
        {
          "symbol": "PLD2",
          "ensemblId": "ENSG00000129219",
          "biotype": "protein_coding",
          "start": 4807074,
          "end": 4823434,
          "strand": "+",
          "slug": "pld2"
        },
        {
          "symbol": "MINK1",
          "ensemblId": "ENSG00000141503",
          "biotype": "protein_coding",
          "start": 4833147,
          "end": 4898065,
          "strand": "+",
          "slug": "mink1"
        },
        {
          "symbol": "CHRNE",
          "ensemblId": "ENSG00000108556",
          "biotype": "protein_coding",
          "start": 4897769,
          "end": 4934438,
          "strand": "-",
          "slug": "chrne"
        },
        {
          "symbol": "C17orf107",
          "ensemblId": "ENSG00000205710",
          "biotype": "protein_coding",
          "start": 4899418,
          "end": 4902934,
          "strand": "+",
          "slug": "c17orf107"
        },
        {
          "symbol": "GP1BA",
          "ensemblId": "ENSG00000185245",
          "biotype": "protein_coding",
          "start": 4932261,
          "end": 4935023,
          "strand": "+",
          "slug": "gp1ba"
        },
        {
          "symbol": "SLC25A11",
          "ensemblId": "ENSG00000108528",
          "biotype": "protein_coding",
          "start": 4934570,
          "end": 4940156,
          "strand": "-",
          "slug": "slc25a11"
        },
        {
          "symbol": "RNF167",
          "ensemblId": "ENSG00000108523",
          "biotype": "protein_coding",
          "start": 4939997,
          "end": 4945223,
          "strand": "+",
          "slug": "rnf167"
        },
        {
          "symbol": "PFN1",
          "ensemblId": "ENSG00000108518",
          "biotype": "protein_coding",
          "start": 4945652,
          "end": 4950517,
          "strand": "-",
          "slug": "pfn1"
        },
        {
          "symbol": "SPAG7",
          "ensemblId": "ENSG00000091640",
          "biotype": "protein_coding",
          "start": 4959226,
          "end": 4967835,
          "strand": "-",
          "slug": "spag7"
        },
        {
          "symbol": "CAMTA2",
          "ensemblId": "ENSG00000108509",
          "biotype": "protein_coding",
          "start": 4967992,
          "end": 4987684,
          "strand": "-",
          "slug": "camta2"
        },
        {
          "symbol": "INCA1",
          "ensemblId": "ENSG00000196388",
          "biotype": "protein_coding",
          "start": 4988130,
          "end": 4999117,
          "strand": "-",
          "slug": "inca1"
        },
        {
          "symbol": "KIF1C",
          "ensemblId": "ENSG00000129250",
          "biotype": "protein_coding",
          "start": 4997629,
          "end": 5028401,
          "strand": "+",
          "slug": "kif1c"
        },
        {
          "symbol": "SLC52A1",
          "ensemblId": "ENSG00000132517",
          "biotype": "protein_coding",
          "start": 5032600,
          "end": 5052009,
          "strand": "-",
          "slug": "slc52a1"
        },
        {
          "symbol": "ZFP3",
          "ensemblId": "ENSG00000180787",
          "biotype": "protein_coding",
          "start": 5078241,
          "end": 5096376,
          "strand": "+",
          "slug": "zfp3"
        },
        {
          "symbol": "ZNF232",
          "ensemblId": "ENSG00000167840",
          "biotype": "protein_coding",
          "start": 5105269,
          "end": 5123162,
          "strand": "-",
          "slug": "znf232"
        },
        {
          "symbol": "USP6",
          "ensemblId": "ENSG00000129204",
          "biotype": "protein_coding",
          "start": 5116032,
          "end": 5175034,
          "strand": "+",
          "slug": "usp6"
        },
        {
          "symbol": "ZNF594",
          "ensemblId": "ENSG00000180626",
          "biotype": "protein_coding",
          "start": 5174019,
          "end": 5191907,
          "strand": "-",
          "slug": "znf594"
        },
        {
          "symbol": "SCIMP",
          "ensemblId": "ENSG00000161929",
          "biotype": "protein_coding",
          "start": 5208915,
          "end": 5234869,
          "strand": "-",
          "slug": "scimp"
        },
        {
          "symbol": "RABEP1",
          "ensemblId": "ENSG00000029725",
          "biotype": "protein_coding",
          "start": 5282258,
          "end": 5386871,
          "strand": "+",
          "slug": "rabep1"
        },
        {
          "symbol": "NUP88",
          "ensemblId": "ENSG00000108559",
          "biotype": "protein_coding",
          "start": 5359641,
          "end": 5420164,
          "strand": "-",
          "slug": "nup88"
        },
        {
          "symbol": "RPAIN",
          "ensemblId": "ENSG00000129197",
          "biotype": "protein_coding",
          "start": 5419066,
          "end": 5432888,
          "strand": "+",
          "slug": "rpain"
        },
        {
          "symbol": "C1QBP",
          "ensemblId": "ENSG00000108561",
          "biotype": "protein_coding",
          "start": 5432625,
          "end": 5448830,
          "strand": "-",
          "slug": "c1qbp"
        },
        {
          "symbol": "DHX33",
          "ensemblId": "ENSG00000005100",
          "biotype": "protein_coding",
          "start": 5440917,
          "end": 5469031,
          "strand": "-",
          "slug": "dhx33"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycogen-storage-disease",
        "name": "Glycogen Storage Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0013046",
            "name": "Muscle Beta-Enolase Deficiency",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in ENO3, which cause exercise intolerance, muscle pain and episodes of muscle breakdown.",
            "management": "Knowing helps avoid triggers of muscle breakdown.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/glycogen-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-creatine-kinase-after-exercise",
        "name": "Elevated creatine kinase after exercise",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-creatine-kinase-after-exercise"
      },
      {
        "slug": "exercise-induced-myoglobinuria",
        "name": "Exercise-induced myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-induced-myoglobinuria"
      },
      {
        "slug": "exercise-induced-rhabdomyolysis",
        "name": "Exercise-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis"
      },
      {
        "slug": "increased-muscle-glycogen-content",
        "name": "Increased muscle glycogen content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-muscle-glycogen-content"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "reduced-muscle-enolase-activity",
        "name": "Reduced muscle enolase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-muscle-enolase-activity"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}