{
  "url": "https://dantelabs.com/tr/genes/tmem38b",
  "gene": {
    "slug": "tmem38b",
    "symbol": "TMEM38B",
    "name": "transmembrane protein 38B",
    "hgnc": "HGNC:25535",
    "summary": null,
    "location": "9q31.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10493",
      "bA219P18.1",
      "D4Ertd89e",
      "TRIC-B"
    ],
    "previousSymbols": [
      "C9orf87"
    ],
    "ensemblId": "ENSG00000095209",
    "entrezId": 55151,
    "omim": [
      "611236"
    ],
    "uniprot": [
      "Q9NVV0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 105694541,
      "end": 105776629,
      "strand": "+",
      "ensemblTranscript": "ENST00000374692.8",
      "refseqTranscript": "NM_018112.3",
      "ensemblProtein": "ENSP00000363824.3",
      "refseqProtein": "NP_060582.1",
      "exons": [
        {
          "start": 105694541,
          "end": 105694772
        },
        {
          "start": 105705597,
          "end": 105705753
        },
        {
          "start": 105721537,
          "end": 105721721
        },
        {
          "start": 105722534,
          "end": 105722621
        },
        {
          "start": 105748073,
          "end": 105748190
        },
        {
          "start": 105773865,
          "end": 105776629
        }
      ],
      "cds": {
        "start": 105694661,
        "end": 105774080
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 108456825,
      "end": 108538893,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 105235585,
      "end": 106235584,
      "genes": [
        {
          "symbol": "SLC44A1",
          "ensemblId": "ENSG00000070214",
          "biotype": "protein_coding",
          "start": 105244519,
          "end": 105439873,
          "strand": "+",
          "slug": "slc44a1"
        },
        {
          "symbol": "FSD1L",
          "ensemblId": "ENSG00000106701",
          "biotype": "protein_coding",
          "start": 105447796,
          "end": 105552433,
          "strand": "+",
          "slug": "fsd1l"
        },
        {
          "symbol": "FKTN",
          "ensemblId": "ENSG00000106692",
          "biotype": "protein_coding",
          "start": 105558122,
          "end": 105653820,
          "strand": "+",
          "slug": "fktn"
        },
        {
          "symbol": "TAL2",
          "ensemblId": "ENSG00000186051",
          "biotype": "protein_coding",
          "start": 105656229,
          "end": 105665420,
          "strand": "+",
          "slug": "tal2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteogenesis-imperfecta",
        "name": "Osteogenesis Imperfecta",
        "diseases": [
          {
            "mondoId": "MONDO:0019019",
            "name": "Osteogenesis Imperfecta",
            "genes": 34,
            "inheritance": null,
            "description": "Kolayca kırılan kırılgan kemiklere neden olan, sıklıkla mavi sklera, işitme kaybı ve diş sorunlarıyla birlikte görülen, kalıtsal bağ dokusu bozukluklarından oluşan bir grup.",
            "management": "Siklik IV bisfosfonatlar (pamidronat, zoledronat); uzun kemiklerin ortopedik çivilenmesi (rodding); fizik tedavi; denosumab (çocukluk çağı OI'sinde klinik kullanımda); romosozumab (geliştirme aşamasında); işitme takibi; dentinogenezis imperfekta için diş tedavisi yönetimi",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/osteogenesis-imperfecta"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-beta-ctx-concentration",
        "name": "Elevated circulating beta-CTX concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-beta-ctx-concentration"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "slender-long-bone",
        "name": "Slender long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/slender-long-bone"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ano5"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp6v0a2"
      },
      {
        "slug": "bmp1",
        "symbol": "BMP1",
        "name": "bone morphogenetic protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/bmp1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col1a2"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "name": "cAMP responsive element binding protein 3 like 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/creb3l1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "name": "cartilage associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/crtap"
      },
      {
        "slug": "fkbp10",
        "symbol": "FKBP10",
        "name": "FKBP prolyl isomerase 10",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/fkbp10"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "name": "golgin, RAB6 interacting",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/gorab"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ifih1"
      },
      {
        "slug": "ifitm5",
        "symbol": "IFITM5",
        "name": "interferon induced transmembrane protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ifitm5"
      },
      {
        "slug": "kdelr2",
        "symbol": "KDELR2",
        "name": "KDEL endoplasmic reticulum protein retention receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/kdelr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}