{
  "url": "https://dantelabs.com/tr/genes/copb2",
  "gene": {
    "slug": "copb2",
    "symbol": "COPB2",
    "name": "coat protein complex I subunit beta 2",
    "hgnc": "HGNC:2232",
    "summary": null,
    "location": "3q23",
    "locusType": "gene with protein product",
    "aliases": [
      "beta'-COP",
      "betaprime-COP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000184432",
    "entrezId": 9276,
    "omim": [
      "606990"
    ],
    "uniprot": [
      "P35606"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 139357406,
      "end": 139389647,
      "strand": "-",
      "ensemblTranscript": "ENST00000333188.10",
      "refseqTranscript": "NM_004766.3",
      "ensemblProtein": "ENSP00000329419.4",
      "refseqProtein": "NP_004757.1",
      "exons": [
        {
          "start": 139357406,
          "end": 139357958
        },
        {
          "start": 139358200,
          "end": 139358271
        },
        {
          "start": 139358744,
          "end": 139358812
        },
        {
          "start": 139358998,
          "end": 139359178
        },
        {
          "start": 139359270,
          "end": 139359362
        },
        {
          "start": 139361081,
          "end": 139361295
        },
        {
          "start": 139362407,
          "end": 139362517
        },
        {
          "start": 139366568,
          "end": 139366775
        },
        {
          "start": 139367015,
          "end": 139367145
        },
        {
          "start": 139368145,
          "end": 139368288
        },
        {
          "start": 139369261,
          "end": 139369367
        },
        {
          "start": 139369456,
          "end": 139369544
        },
        {
          "start": 139371723,
          "end": 139371833
        },
        {
          "start": 139373213,
          "end": 139373412
        },
        {
          "start": 139373666,
          "end": 139373808
        },
        {
          "start": 139374489,
          "end": 139374588
        },
        {
          "start": 139375468,
          "end": 139375614
        },
        {
          "start": 139378041,
          "end": 139378189
        },
        {
          "start": 139379047,
          "end": 139379173
        },
        {
          "start": 139379380,
          "end": 139379466
        },
        {
          "start": 139383298,
          "end": 139383435
        },
        {
          "start": 139389548,
          "end": 139389647
        }
      ],
      "cds": {
        "start": 139357863,
        "end": 139389550
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 139074442,
      "end": 139108574,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 138873527,
      "end": 139873526,
      "genes": [
        {
          "symbol": "FOXL2",
          "ensemblId": "ENSG00000183770",
          "biotype": "protein_coding",
          "start": 138944224,
          "end": 138947137,
          "strand": "-",
          "slug": "foxl2"
        },
        {
          "symbol": "FOXL2NB",
          "ensemblId": "ENSG00000206262",
          "biotype": "protein_coding",
          "start": 138947177,
          "end": 138953990,
          "strand": "+",
          "slug": "foxl2nb"
        },
        {
          "symbol": "PRR23A",
          "ensemblId": "ENSG00000206260",
          "biotype": "protein_coding",
          "start": 139003962,
          "end": 139006268,
          "strand": "-",
          "slug": "prr23a"
        },
        {
          "symbol": "MRPS22",
          "ensemblId": "ENSG00000175110",
          "biotype": "protein_coding",
          "start": 139005806,
          "end": 139360497,
          "strand": "+",
          "slug": "mrps22"
        },
        {
          "symbol": "PRR23B",
          "ensemblId": "ENSG00000184814",
          "biotype": "protein_coding",
          "start": 139019031,
          "end": 139020926,
          "strand": "-",
          "slug": "prr23b"
        },
        {
          "symbol": "PRR23C",
          "ensemblId": "ENSG00000233701",
          "biotype": "protein_coding",
          "start": 139042102,
          "end": 139044892,
          "strand": "-",
          "slug": "prr23c"
        },
        {
          "symbol": "RBP2",
          "ensemblId": "ENSG00000114113",
          "biotype": "protein_coding",
          "start": 139452884,
          "end": 139480767,
          "strand": "-",
          "slug": "rbp2"
        },
        {
          "symbol": "RBP1",
          "ensemblId": "ENSG00000114115",
          "biotype": "protein_coding",
          "start": 139517434,
          "end": 139540396,
          "strand": "-",
          "slug": "rbp1"
        },
        {
          "symbol": "NMNAT3",
          "ensemblId": "ENSG00000163864",
          "biotype": "protein_coding",
          "start": 139558696,
          "end": 139678017,
          "strand": "-",
          "slug": "nmnat3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "monogenic-early-onset-osteoporosis",
        "name": "Monogenik Erken Başlangıçlı Osteoporoz",
        "diseases": [
          {
            "mondoId": "MONDO:0859253",
            "name": "Gelişimsel gecikmeyle birlikte çocukluk veya gençlik döneminde başlayan osteoporoz (COPB2 ile ilişkili)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "COPB2 varyantlarından kaynaklanan, çocuklukta başlayan kırıklar ve gelişimsel gecikmenin birlikte görüldüğü osteoporoz.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/monogenic-early-onset-osteoporosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "extra-axial-cerebrospinal-fluid-accumulation",
        "name": "Extra-axial cerebrospinal fluid accumulation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/extra-axial-cerebrospinal-fluid-accumulation"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "focal-cortical-dysplasia",
        "name": "Focal cortical dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-cortical-dysplasia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "hypoplasia-of-the-frontal-lobes",
        "name": "Underdeveloped frontal lobe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}