{
  "url": "https://dantelabs.com/genes/itm2b",
  "gene": {
    "slug": "itm2b",
    "symbol": "ITM2B",
    "name": "integral membrane protein 2B",
    "hgnc": "HGNC:6174",
    "summary": null,
    "location": "13q14.2",
    "locusType": "gene with protein product",
    "aliases": [
      "BRI",
      "E25B",
      "E3-16",
      "BRICD2B",
      "BRI2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000136156",
    "entrezId": 9445,
    "omim": [
      "603904"
    ],
    "uniprot": [
      "Q9Y287"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 48233206,
      "end": 48270357,
      "strand": "+",
      "ensemblTranscript": "ENST00000647800.2",
      "refseqTranscript": "NM_021999.5",
      "ensemblProtein": "ENSP00000497221.1",
      "refseqProtein": "NP_068839.1",
      "exons": [
        {
          "start": 48233206,
          "end": 48233477
        },
        {
          "start": 48253808,
          "end": 48253936
        },
        {
          "start": 48256177,
          "end": 48256383
        },
        {
          "start": 48258126,
          "end": 48258236
        },
        {
          "start": 48258797,
          "end": 48258947
        },
        {
          "start": 48261139,
          "end": 48270357
        }
      ],
      "cds": {
        "start": 48233361,
        "end": 48261224
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 48807294,
      "end": 48837063,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47751782,
      "end": 48751781,
      "genes": [
        {
          "symbol": "SUCLA2",
          "ensemblId": "ENSG00000136143",
          "biotype": "protein_coding",
          "start": 47745736,
          "end": 48037968,
          "strand": "-",
          "slug": "sucla2"
        },
        {
          "symbol": "MED4",
          "ensemblId": "ENSG00000136146",
          "biotype": "protein_coding",
          "start": 48001823,
          "end": 48095150,
          "strand": "-",
          "slug": "med4"
        },
        {
          "symbol": "NUDT15",
          "ensemblId": "ENSG00000136159",
          "biotype": "protein_coding",
          "start": 48037514,
          "end": 48054196,
          "strand": "+",
          "slug": "nudt15"
        },
        {
          "symbol": "RB1",
          "ensemblId": "ENSG00000139687",
          "biotype": "protein_coding",
          "start": 48303710,
          "end": 48599436,
          "strand": "+",
          "slug": "rb1"
        },
        {
          "symbol": "LPAR6",
          "ensemblId": "ENSG00000139679",
          "biotype": "protein_coding",
          "start": 48327364,
          "end": 48444704,
          "strand": "-",
          "slug": "lpar6"
        },
        {
          "symbol": "RCBTB2",
          "ensemblId": "ENSG00000136161",
          "biotype": "protein_coding",
          "start": 48488858,
          "end": 48536006,
          "strand": "-",
          "slug": "rcbtb2"
        },
        {
          "symbol": "CYSLTR2",
          "ensemblId": "ENSG00000152207",
          "biotype": "protein_coding",
          "start": 48653709,
          "end": 48711227,
          "strand": "+",
          "slug": "cysltr2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Cerebral Amyloid Angiopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005620",
            "name": "Cerebral Amyloid Angiopathy",
            "genes": 3,
            "inheritance": "autosomal-dominant",
            "description": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Hereditary Amyloidosis",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Hereditary Amyloidosis",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. \n\nThere are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). ",
            "management": "Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/hereditary-amyloidosis-145"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "cerebral-amyloid-angiopathy",
        "name": "Cerebral amyloid angiopathy",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/cerebral-amyloid-angiopathy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "neurofibrillary-tangles",
        "name": "Neurofibrillary tangles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neurofibrillary-tangles"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "posterior-polar-cataract",
        "name": "Posterior polar cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-polar-cataract"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "app",
        "symbol": "APP",
        "name": "amyloid beta precursor protein",
        "shared": 2,
        "url": "https://dantelabs.com/genes/app"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 2,
        "url": "https://dantelabs.com/genes/cst3"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "name": "apolipoprotein A1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/apoa1"
      },
      {
        "slug": "apoa4",
        "symbol": "APOA4",
        "name": "apolipoprotein A4",
        "shared": 1,
        "url": "https://dantelabs.com/genes/apoa4"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/b2m"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/gsn"
      },
      {
        "slug": "lyz",
        "symbol": "LYZ",
        "name": "lysozyme",
        "shared": 1,
        "url": "https://dantelabs.com/genes/lyz"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/genes/osmr"
      },
      {
        "slug": "ttr",
        "symbol": "TTR",
        "name": "transthyretin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ttr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}