{
  "url": "https://dantelabs.com/it/genes/sh3bp2",
  "gene": {
    "slug": "sh3bp2",
    "symbol": "SH3BP2",
    "name": "SH3 domain binding protein 2",
    "hgnc": "HGNC:10825",
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    "location": "4p16.3",
    "locusType": "gene with protein product",
    "aliases": [
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      "CRBM"
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    "previousSymbols": [],
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    "entrezId": 6452,
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    "uniprot": [
      "P78314"
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      "chrom": "4",
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      "strand": "+",
      "ensemblTranscript": "ENST00000503393.8",
      "refseqTranscript": "NM_001122681.2",
      "ensemblProtein": "ENSP00000422168.3",
      "refseqProtein": "NP_001116153.1",
      "exons": [
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    },
    "grch37": {
      "build": "GRCh37",
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      "strand": "+"
    },
    "neighbourhood": {
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        {
          "symbol": "ZFYVE28",
          "ensemblId": "ENSG00000159733",
          "biotype": "protein_coding",
          "start": 2269578,
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          "slug": "zfyve28"
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        {
          "symbol": "CFAP99",
          "ensemblId": "ENSG00000206113",
          "biotype": "protein_coding",
          "start": 2418955,
          "end": 2463003,
          "strand": "+",
          "slug": "cfap99"
        },
        {
          "symbol": "RNF4",
          "ensemblId": "ENSG00000063978",
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          "strand": "+",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000290180",
          "biotype": "protein_coding",
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          "end": 2625320,
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        },
        {
          "symbol": "FAM193A",
          "ensemblId": "ENSG00000125386",
          "biotype": "protein_coding",
          "start": 2536572,
          "end": 2732576,
          "strand": "+",
          "slug": "fam193a"
        },
        {
          "symbol": "TNIP2",
          "ensemblId": "ENSG00000168884",
          "biotype": "protein_coding",
          "start": 2741648,
          "end": 2756406,
          "strand": "-",
          "slug": "tnip2"
        },
        {
          "symbol": "ADD1",
          "ensemblId": "ENSG00000087274",
          "biotype": "protein_coding",
          "start": 2843576,
          "end": 2930082,
          "strand": "+",
          "slug": "add1"
        },
        {
          "symbol": "SLC75A1",
          "ensemblId": "ENSG00000109736",
          "biotype": "protein_coding",
          "start": 2929917,
          "end": 2935462,
          "strand": "-",
          "slug": "slc75a1"
        },
        {
          "symbol": "NOP14",
          "ensemblId": "ENSG00000087269",
          "biotype": "protein_coding",
          "start": 2937925,
          "end": 2963502,
          "strand": "-",
          "slug": "nop14"
        },
        {
          "symbol": "GRK4",
          "ensemblId": "ENSG00000125388",
          "biotype": "protein_coding",
          "start": 2963571,
          "end": 3040760,
          "strand": "+",
          "slug": "grk4"
        },
        {
          "symbol": "HTT",
          "ensemblId": "ENSG00000197386",
          "biotype": "protein_coding",
          "start": 3041363,
          "end": 3243957,
          "strand": "+",
          "slug": "htt"
        },
        {
          "symbol": "MSANTD1",
          "ensemblId": "ENSG00000188981",
          "biotype": "protein_coding",
          "start": 3244369,
          "end": 3271738,
          "strand": "+",
          "slug": "msantd1"
        },
        {
          "symbol": "RGS12",
          "ensemblId": "ENSG00000159788",
          "biotype": "protein_coding",
          "start": 3292982,
          "end": 3439913,
          "strand": "+",
          "slug": "rgs12"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cherubism",
        "name": "Cherubismo",
        "diseases": [
          {
            "mondoId": "MONDO:0007315",
            "name": "Cherubismo",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Tumefazione bilaterale e indolore delle mascelle fin dalla prima infanzia, dovuta a lesioni fibrose e causata da varianti in SH3BP2; i denti possono essere spostati o persi.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/cherubism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormal-mandible-morphology",
        "name": "Abnormality of the lower jaw bone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-mandible-morphology"
      },
      {
        "slug": "abnormality-of-the-voice",
        "name": "Abnormality of the voice",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-voice"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "bone-cyst",
        "name": "Bone cyst",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-cyst"
      },
      {
        "slug": "broad-jaw",
        "name": "Broad jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/broad-jaw"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "central-giant-cell-lesion-of-the-jaw",
        "name": "Central giant cell lesion of the jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/central-giant-cell-lesion-of-the-jaw"
      },
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "alveolar-ridge-overgrowth",
        "name": "Increased size of gum ridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/alveolar-ridge-overgrowth"
      },
      {
        "slug": "jaw-swelling",
        "name": "Jaw swelling",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/jaw-swelling"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "lower-eyelid-retraction",
        "name": "Lower eyelid retraction",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-eyelid-retraction"
      },
      {
        "slug": "macular-scar",
        "name": "Macular scar",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macular-scar"
      },
      {
        "slug": "marcus-gunn-pupil",
        "name": "Marcus Gunn pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/marcus-gunn-pupil"
      },
      {
        "slug": "multiple-impacted-teeth",
        "name": "Multiple impacted teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/multiple-impacted-teeth"
      },
      {
        "slug": "narrow-palate",
        "name": "Narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-palate"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "submandibular-lymph-node-enlargement",
        "name": "Submandibular lymph node enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/submandibular-lymph-node-enlargement"
      },
      {
        "slug": "upper-airway-obstruction",
        "name": "Upper airway obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-airway-obstruction"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}