{
  "url": "https://dantelabs.com/fi/genes/sptb",
  "gene": {
    "slug": "sptb",
    "symbol": "SPTB",
    "name": "spectrin beta, erythrocytic",
    "hgnc": "HGNC:11274",
    "summary": null,
    "location": "14q23.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000070182",
    "entrezId": 6710,
    "omim": [
      "182870"
    ],
    "uniprot": [
      "P11277"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 64746283,
      "end": 64879907,
      "strand": "-",
      "ensemblTranscript": "ENST00000644917.1",
      "refseqTranscript": "NM_001355436.2",
      "ensemblProtein": "ENSP00000495909.1",
      "refseqProtein": "NP_001342365.1",
      "exons": [
        {
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          "end": 64879907
        }
      ],
      "cds": {
        "start": 64749306,
        "end": 64823094
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 65213002,
      "end": 65346601,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 64313095,
      "end": 65313094,
      "genes": [
        {
          "symbol": "ESR2",
          "ensemblId": "ENSG00000140009",
          "biotype": "protein_coding",
          "start": 64084232,
          "end": 64338112,
          "strand": "-",
          "slug": "esr2"
        },
        {
          "symbol": "MTHFD1",
          "ensemblId": "ENSG00000100714",
          "biotype": "protein_coding",
          "start": 64388031,
          "end": 64463457,
          "strand": "+",
          "slug": "mthfd1"
        },
        {
          "symbol": "ZBTB25",
          "ensemblId": "ENSG00000089775",
          "biotype": "protein_coding",
          "start": 64430818,
          "end": 64505232,
          "strand": "-",
          "slug": "zbtb25"
        },
        {
          "symbol": "AKAP5",
          "ensemblId": "ENSG00000179841",
          "biotype": "protein_coding",
          "start": 64465275,
          "end": 64474503,
          "strand": "+",
          "slug": "akap5"
        },
        {
          "symbol": "ZBTB1",
          "ensemblId": "ENSG00000126804",
          "biotype": "protein_coding",
          "start": 64502152,
          "end": 64533690,
          "strand": "+",
          "slug": "zbtb1"
        },
        {
          "symbol": "HSPA2",
          "ensemblId": "ENSG00000126803",
          "biotype": "protein_coding",
          "start": 64535905,
          "end": 64546173,
          "strand": "+",
          "slug": "hspa2"
        },
        {
          "symbol": "PPP1R36",
          "ensemblId": "ENSG00000165807",
          "biotype": "protein_coding",
          "start": 64549890,
          "end": 64590096,
          "strand": "+",
          "slug": "ppp1r36"
        },
        {
          "symbol": "PLEKHG3",
          "ensemblId": "ENSG00000126822",
          "biotype": "protein_coding",
          "start": 64704102,
          "end": 64750249,
          "strand": "+",
          "slug": "plekhg3"
        },
        {
          "symbol": "CHURC1",
          "ensemblId": "ENSG00000258289",
          "biotype": "protein_coding",
          "start": 64914361,
          "end": 64957314,
          "strand": "+",
          "slug": "churc1"
        },
        {
          "symbol": "CHURC1-FNTB",
          "ensemblId": "ENSG00000125954",
          "biotype": "protein_coding",
          "start": 64914485,
          "end": 65061803,
          "strand": "+",
          "slug": "churc1-fntb"
        },
        {
          "symbol": "GPX2",
          "ensemblId": "ENSG00000176153",
          "biotype": "protein_coding",
          "start": 64939152,
          "end": 64942746,
          "strand": "-",
          "slug": "gpx2"
        },
        {
          "symbol": "RAB15",
          "ensemblId": "ENSG00000139998",
          "biotype": "protein_coding",
          "start": 64945814,
          "end": 64973226,
          "strand": "-",
          "slug": "rab15"
        },
        {
          "symbol": "FNTB",
          "ensemblId": "ENSG00000257365",
          "biotype": "protein_coding",
          "start": 64986837,
          "end": 65062658,
          "strand": "+",
          "slug": "fntb"
        },
        {
          "symbol": "MAX",
          "ensemblId": "ENSG00000125952",
          "biotype": "protein_coding",
          "start": 65005398,
          "end": 65102695,
          "strand": "-",
          "slug": "max"
        },
        {
          "symbol": "FUT8",
          "ensemblId": "ENSG00000033170",
          "biotype": "protein_coding",
          "start": 65285127,
          "end": 65747182,
          "strand": "+",
          "slug": "fut8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spherocytosis",
        "name": "Perinnöllinen pallosytoosi",
        "diseases": [
          {
            "mondoId": "MONDO:0019350",
            "name": "Perinnöllinen pallosytoosi",
            "genes": 6,
            "inheritance": null,
            "description": "Perinnöllinen pallosytoosi on synnynnäinen hemolyyttinen anemia, jonka kliininen kirjo on laaja (oireettomista kantajista vaikeaan hemolyysiin). Sille ovat ominaisia anemia, vaihteleva keltaisuus, pernan suurentuminen ja sappikivet.",
            "management": "Foliinihapon lisäys; pernanpoisto keskivaikeaa tai vaikeaa tautia varten (osittainen tai täydellinen); rokotus ennen pernanpoistoa; sappirakon poisto sappikivien vuoksi; verensiirtotuki aplastisten kriisien aikana; parvovirus B19 -seuranta",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-spherocytosis"
      },
      {
        "slug": "red-blood-cell-membrane-disorders",
        "name": "Punasolujen solukalvon häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0017319",
            "name": "Perinnöllinen elliptosytoosi",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Perinnölliset muutokset punasolujen tukirangan proteiineissa, joita koodaavat pääasiassa geenit SPTA1, SPTB tai EPB41. Muutokset tekevät punasoluista soikeita tai pitkänomaisia. Useimmilla ihmisillä ei ole oireita, mutta osalla esiintyy hemolyyttistä anemiaa.",
            "management": "Tiedon saaminen selittää epätavalliset verinäytteen löydökset ja ohjaa anemian hoitoa silloin, kun sitä esiintyy.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/red-blood-cell-membrane-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "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": "acanthocytosis",
        "name": "Acanthocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acanthocytosis"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "chills",
        "name": "Chills",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chills"
      },
      {
        "slug": "chronic-hemolytic-anemia",
        "name": "Chronic hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/chronic-hemolytic-anemia"
      },
      {
        "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": "decreased-mean-corpuscular-volume",
        "name": "Decreased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-mean-corpuscular-volume"
      },
      {
        "slug": "elliptocytosis",
        "name": "Elliptocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elliptocytosis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "extramedullary-hematopoiesis",
        "name": "Extramedullary hematopoiesis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/extramedullary-hematopoiesis"
      },
      {
        "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": "occasional",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "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": "hypercoagulability",
        "name": "Hypercoagulability",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercoagulability"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "increased-mean-corpuscular-hemoglobin-concentration",
        "name": "Increased mean corpuscular hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-hemoglobin-concentration"
      },
      {
        "slug": "increased-red-cell-osmotic-fragility",
        "name": "Increased red cell osmotic fragility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intermittent-jaundice",
        "name": "Intermittent yellow skin",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/intermittent-jaundice"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "maculopapular-exanthema",
        "name": "Maculopapular exanthema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/maculopapular-exanthema"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "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": "pyropoikilocytosis",
        "name": "Pyropoikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pyropoikilocytosis"
      },
      {
        "slug": "restrictive-cardiomyopathy",
        "name": "Restrictive cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-cardiomyopathy"
      },
      {
        "slug": "spherocytosis",
        "name": "Spherocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spherocytosis"
      },
      {
        "slug": "spontaneous-hemolytic-crises",
        "name": "Spontaneous hemolytic crises",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spontaneous-hemolytic-crises"
      },
      {
        "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": 2,
        "url": "https://dantelabs.com/fi/genes/slc4a1"
      },
      {
        "slug": "spta1",
        "symbol": "SPTA1",
        "name": "spectrin alpha, erythrocytic 1",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/spta1"
      },
      {
        "slug": "ank1",
        "symbol": "ANK1",
        "name": "ankyrin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ank1"
      },
      {
        "slug": "epb41",
        "symbol": "EPB41",
        "name": "erythrocyte membrane protein band 4.1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/epb41"
      },
      {
        "slug": "epb42",
        "symbol": "EPB42",
        "name": "erythrocyte membrane protein band 4.2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/epb42"
      },
      {
        "slug": "slc4a2",
        "symbol": "SLC4A2",
        "name": "solute carrier family 4 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/slc4a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}