{
  "url": "https://dantelabs.com/pl/genes/epb41",
  "gene": {
    "slug": "epb41",
    "symbol": "EPB41",
    "name": "erythrocyte membrane protein band 4.1",
    "hgnc": "HGNC:3377",
    "summary": null,
    "location": "1p35.3",
    "locusType": "gene with protein product",
    "aliases": [
      "4.1R"
    ],
    "previousSymbols": [
      "EL1"
    ],
    "ensemblId": "ENSG00000159023",
    "entrezId": 2035,
    "omim": [
      "130500"
    ],
    "uniprot": [
      "P11171"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 28914569,
      "end": 29120041,
      "strand": "+",
      "ensemblTranscript": "ENST00000343067.9",
      "refseqTranscript": "NM_001376013.1",
      "ensemblProtein": "ENSP00000345259.4",
      "refseqProtein": "NP_001362942.1",
      "exons": [
        {
          "start": 28914569,
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        },
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        {
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        {
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        {
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          "end": 29115803
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          "end": 29120041
        }
      ],
      "cds": {
        "start": 28987438,
        "end": 29115797
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 29213603,
      "end": 29446553,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 28517305,
      "end": 29517304,
      "genes": [
        {
          "symbol": "RCC1",
          "ensemblId": "ENSG00000180198",
          "biotype": "protein_coding",
          "start": 28505932,
          "end": 28539300,
          "strand": "+",
          "slug": "rcc1"
        },
        {
          "symbol": "TRNAU1AP",
          "ensemblId": "ENSG00000180098",
          "biotype": "protein_coding",
          "start": 28552991,
          "end": 28578549,
          "strand": "+",
          "slug": "trnau1ap"
        },
        {
          "symbol": "TAF12",
          "ensemblId": "ENSG00000120656",
          "biotype": "protein_coding",
          "start": 28587829,
          "end": 28648364,
          "strand": "-",
          "slug": "taf12"
        },
        {
          "symbol": "RAB42",
          "ensemblId": "ENSG00000188060",
          "biotype": "protein_coding",
          "start": 28592200,
          "end": 28596280,
          "strand": "+",
          "slug": "rab42"
        },
        {
          "symbol": "GMEB1",
          "ensemblId": "ENSG00000162419",
          "biotype": "protein_coding",
          "start": 28668280,
          "end": 28719353,
          "strand": "+",
          "slug": "gmeb1"
        },
        {
          "symbol": "YTHDF2",
          "ensemblId": "ENSG00000198492",
          "biotype": "protein_coding",
          "start": 28736608,
          "end": 28770214,
          "strand": "+",
          "slug": "ythdf2"
        },
        {
          "symbol": "OPRD1",
          "ensemblId": "ENSG00000116329",
          "biotype": "protein_coding",
          "start": 28812089,
          "end": 28871267,
          "strand": "+",
          "slug": "oprd1"
        },
        {
          "symbol": "TMEM200B",
          "ensemblId": "ENSG00000253304",
          "biotype": "protein_coding",
          "start": 29119426,
          "end": 29123935,
          "strand": "-",
          "slug": "tmem200b"
        },
        {
          "symbol": "SRSF4",
          "ensemblId": "ENSG00000116350",
          "biotype": "protein_coding",
          "start": 29147743,
          "end": 29181994,
          "strand": "-",
          "slug": "srsf4"
        },
        {
          "symbol": "MECR",
          "ensemblId": "ENSG00000116353",
          "biotype": "protein_coding",
          "start": 29192657,
          "end": 29230958,
          "strand": "-",
          "slug": "mecr"
        },
        {
          "symbol": "PTPRU",
          "ensemblId": "ENSG00000060656",
          "biotype": "protein_coding",
          "start": 29236500,
          "end": 29326813,
          "strand": "+",
          "slug": "ptpru"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "red-blood-cell-membrane-disorders",
        "name": "Zaburzenia błony erytrocytów",
        "diseases": [
          {
            "mondoId": "MONDO:0017319",
            "name": "Dziedziczna eliptocytoza",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Dziedziczne zmiany białek szkieletu krwinek czerwonych, kodowanych głównie przez geny SPTA1, SPTB lub EPB41, powodujące, że krwinki czerwone mają kształt owalny lub wydłużony; większość osób nie ma objawów, lecz u niektórych występuje niedokrwistość hemolityczna.",
            "management": "Wiedza o tym schorzeniu wyjaśnia nietypowe wyniki badania rozmazu krwi i pomaga w leczeniu niedokrwistości, jeśli ta występuje.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/red-blood-cell-membrane-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-erythrocyte-morphology",
        "name": "Abnormal erythrocyte morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-erythrocyte-morphology"
      },
      {
        "slug": "chills",
        "name": "Chills",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chills"
      },
      {
        "slug": "congenital-hemolytic-anemia",
        "name": "Congenital hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hemolytic-anemia"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "elliptocytosis",
        "name": "Elliptocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elliptocytosis"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "increased-red-cell-osmotic-fragility",
        "name": "Increased red cell osmotic fragility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-red-cell-osmotic-fragility"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "neonatal-hyperbilirubinemia",
        "name": "Neonatal hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hyperbilirubinemia"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "poikilocytosis",
        "name": "Poikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poikilocytosis"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "stomatocytosis",
        "name": "Stomatocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stomatocytosis"
      }
    ],
    "related": [
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/slc4a1"
      },
      {
        "slug": "spta1",
        "symbol": "SPTA1",
        "name": "spectrin alpha, erythrocytic 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/spta1"
      },
      {
        "slug": "sptb",
        "symbol": "SPTB",
        "name": "spectrin beta, erythrocytic",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/sptb"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}