{
  "url": "https://dantelabs.com/fi/genes/sparc",
  "gene": {
    "slug": "sparc",
    "symbol": "SPARC",
    "name": "secreted protein acidic and cysteine rich",
    "hgnc": "HGNC:11219",
    "summary": null,
    "location": "5q33.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ONT",
      "BM-40"
    ],
    "previousSymbols": [
      "ON"
    ],
    "ensemblId": "ENSG00000113140",
    "entrezId": 6678,
    "omim": [
      "182120"
    ],
    "uniprot": [
      "P09486"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 151661096,
      "end": 151686915,
      "strand": "-",
      "ensemblTranscript": "ENST00000231061.9",
      "refseqTranscript": "NM_003118.4",
      "ensemblProtein": "ENSP00000231061.4",
      "refseqProtein": "NP_003109.1",
      "exons": [
        {
          "start": 151661096,
          "end": 151663599
        },
        {
          "start": 151664087,
          "end": 151664235
        },
        {
          "start": 151666361,
          "end": 151666509
        },
        {
          "start": 151667467,
          "end": 151667600
        },
        {
          "start": 151669664,
          "end": 151669784
        },
        {
          "start": 151671573,
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        },
        {
          "start": 151673129,
          "end": 151673216
        },
        {
          "start": 151674612,
          "end": 151674674
        },
        {
          "start": 151676132,
          "end": 151676201
        },
        {
          "start": 151686865,
          "end": 151686915
        }
      ],
      "cds": {
        "start": 151663571,
        "end": 151676188
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 151040657,
      "end": 151066726,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 151174006,
      "end": 152174005,
      "genes": [
        {
          "symbol": "CCDC69",
          "ensemblId": "ENSG00000198624",
          "biotype": "protein_coding",
          "start": 151181049,
          "end": 151224156,
          "strand": "-",
          "slug": "ccdc69"
        },
        {
          "symbol": "GM2A",
          "ensemblId": "ENSG00000196743",
          "biotype": "protein_coding",
          "start": 151212150,
          "end": 151281466,
          "strand": "+",
          "slug": "gm2a"
        },
        {
          "symbol": "SLC36A3",
          "ensemblId": "ENSG00000186334",
          "biotype": "protein_coding",
          "start": 151276358,
          "end": 151303766,
          "strand": "-",
          "slug": "slc36a3"
        },
        {
          "symbol": "SLC36A2",
          "ensemblId": "ENSG00000186335",
          "biotype": "protein_coding",
          "start": 151314972,
          "end": 151347602,
          "strand": "-",
          "slug": "slc36a2"
        },
        {
          "symbol": "SLC36A1",
          "ensemblId": "ENSG00000123643",
          "biotype": "protein_coding",
          "start": 151437046,
          "end": 151525119,
          "strand": "+",
          "slug": "slc36a1"
        },
        {
          "symbol": "FAT2",
          "ensemblId": "ENSG00000086570",
          "biotype": "protein_coding",
          "start": 151504092,
          "end": 151591331,
          "strand": "-",
          "slug": "fat2"
        },
        {
          "symbol": "ATOX1",
          "ensemblId": "ENSG00000177556",
          "biotype": "protein_coding",
          "start": 151728919,
          "end": 151772532,
          "strand": "-",
          "slug": "atox1"
        },
        {
          "symbol": "G3BP1",
          "ensemblId": "ENSG00000145907",
          "biotype": "protein_coding",
          "start": 151770951,
          "end": 151812911,
          "strand": "+",
          "slug": "g3bp1"
        },
        {
          "symbol": "GLRA1",
          "ensemblId": "ENSG00000145888",
          "biotype": "protein_coding",
          "start": 151822513,
          "end": 151924851,
          "strand": "-",
          "slug": "glra1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteogenesis-imperfecta",
        "name": "Osteogenesis Imperfecta",
        "diseases": [
          {
            "mondoId": "MONDO:0019019",
            "name": "Osteogenesis Imperfecta",
            "genes": 34,
            "inheritance": null,
            "description": "Joukko perinnöllisiä sidekudossairauksia, jotka aiheuttavat hauraita luita, jotka murtuvat helposti. Oireisiin kuuluu usein sinertävä sklera, kuulonalenema ja hammasongelmia.",
            "management": "Syklinen laskimonsisäinen bisfosfonaattihoito (pamidronaatti, zoledronaatti); pitkien luiden ortopedinen tukeminen tankoin; fysioterapia; denosumabi (käytössä kliinisesti lasten OI:n hoidossa); romosotsumabi (kehitteillä); kuulon seuranta; hampaiden hoito dentinogenesis imperfectan vuoksi",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/osteogenesis-imperfecta"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "bowed-humerus",
        "name": "Bowed long bone in upper arm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bowed-humerus"
      },
      {
        "slug": "vertebral-compression-fracture",
        "name": "Compression fracture of a vertebral body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-compression-fracture"
      },
      {
        "slug": "decreased-muscle-mass",
        "name": "Decreased muscle mass",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-muscle-mass"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "syringomyelia",
        "name": "Fluid-filled cyst in spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syringomyelia"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "intraventricular-hemorrhage",
        "name": "Intraventricular hemorrhage",
        "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/intraventricular-hemorrhage"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "soft-skin",
        "name": "Soft skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/soft-skin"
      },
      {
        "slug": "thin-metacarpal-cortices",
        "name": "Thin metacarpal cortices",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-metacarpal-cortices"
      },
      {
        "slug": "thin-long-bone-diaphyses",
        "name": "Thin shaft of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-long-bone-diaphyses"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ano5"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atp6v0a2"
      },
      {
        "slug": "bmp1",
        "symbol": "BMP1",
        "name": "bone morphogenetic protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bmp1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/col1a2"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "name": "cAMP responsive element binding protein 3 like 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/creb3l1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "name": "cartilage associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/crtap"
      },
      {
        "slug": "fkbp10",
        "symbol": "FKBP10",
        "name": "FKBP prolyl isomerase 10",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/fkbp10"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "name": "golgin, RAB6 interacting",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gorab"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ifih1"
      },
      {
        "slug": "ifitm5",
        "symbol": "IFITM5",
        "name": "interferon induced transmembrane protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ifitm5"
      },
      {
        "slug": "kdelr2",
        "symbol": "KDELR2",
        "name": "KDEL endoplasmic reticulum protein retention receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/kdelr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}