{
  "url": "https://dantelabs.com/no/genes/chmp4b",
  "gene": {
    "slug": "chmp4b",
    "symbol": "CHMP4B",
    "name": "charged multivesicular body protein 4B",
    "hgnc": "HGNC:16171",
    "summary": null,
    "location": "20q11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ553F4.4",
      "Shax1",
      "SNF7-2",
      "VPS32B"
    ],
    "previousSymbols": [
      "C20orf178"
    ],
    "ensemblId": "ENSG00000101421",
    "entrezId": 128866,
    "omim": [
      "610897"
    ],
    "uniprot": [
      "Q9H444"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 33811348,
      "end": 33854366,
      "strand": "+",
      "ensemblTranscript": "ENST00000217402.3",
      "refseqTranscript": "NM_176812.5",
      "ensemblProtein": "ENSP00000217402.2",
      "refseqProtein": "NP_789782.1",
      "exons": [
        {
          "start": 33811348,
          "end": 33811658
        },
        {
          "start": 33848467,
          "end": 33848644
        },
        {
          "start": 33850952,
          "end": 33851066
        },
        {
          "start": 33852077,
          "end": 33852203
        },
        {
          "start": 33853496,
          "end": 33854366
        }
      ],
      "cds": {
        "start": 33811469,
        "end": 33853560
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 32399110,
      "end": 32442172,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 33332857,
      "end": 34332856,
      "genes": [
        {
          "symbol": "CDK5RAP1",
          "ensemblId": "ENSG00000101391",
          "biotype": "protein_coding",
          "start": 33348588,
          "end": 33401561,
          "strand": "-",
          "slug": "cdk5rap1"
        },
        {
          "symbol": "SNTA1",
          "ensemblId": "ENSG00000101400",
          "biotype": "protein_coding",
          "start": 33407955,
          "end": 33443897,
          "strand": "-",
          "slug": "snta1"
        },
        {
          "symbol": "CBFA2T2",
          "ensemblId": "ENSG00000078699",
          "biotype": "protein_coding",
          "start": 33490060,
          "end": 33650036,
          "strand": "+",
          "slug": "cbfa2t2"
        },
        {
          "symbol": "NECAB3",
          "ensemblId": "ENSG00000125967",
          "biotype": "protein_coding",
          "start": 33657087,
          "end": 33674473,
          "strand": "-",
          "slug": "necab3"
        },
        {
          "symbol": "C20orf144",
          "ensemblId": "ENSG00000149609",
          "biotype": "protein_coding",
          "start": 33662327,
          "end": 33665619,
          "strand": "+",
          "slug": "c20orf144"
        },
        {
          "symbol": "ACTL10",
          "ensemblId": "ENSG00000288649",
          "biotype": "protein_coding",
          "start": 33666943,
          "end": 33668525,
          "strand": "+",
          "slug": "actl10"
        },
        {
          "symbol": "E2F1",
          "ensemblId": "ENSG00000101412",
          "biotype": "protein_coding",
          "start": 33675477,
          "end": 33686426,
          "strand": "-",
          "slug": "e2f1"
        },
        {
          "symbol": "PXMP4",
          "ensemblId": "ENSG00000101417",
          "biotype": "protein_coding",
          "start": 33702758,
          "end": 33720412,
          "strand": "-",
          "slug": "pxmp4"
        },
        {
          "symbol": "ZNF341",
          "ensemblId": "ENSG00000131061",
          "biotype": "protein_coding",
          "start": 33731657,
          "end": 33792269,
          "strand": "+",
          "slug": "znf341"
        },
        {
          "symbol": "RALY",
          "ensemblId": "ENSG00000125970",
          "biotype": "protein_coding",
          "start": 33993632,
          "end": 34108308,
          "strand": "+",
          "slug": "raly"
        },
        {
          "symbol": "EIF2S2",
          "ensemblId": "ENSG00000125977",
          "biotype": "protein_coding",
          "start": 34088309,
          "end": 34112284,
          "strand": "-",
          "slug": "eif2s2"
        },
        {
          "symbol": "ASIP",
          "ensemblId": "ENSG00000101440",
          "biotype": "protein_coding",
          "start": 34194569,
          "end": 34269346,
          "strand": "+",
          "slug": "asip"
        },
        {
          "symbol": "AHCY",
          "ensemblId": "ENSG00000101444",
          "biotype": "protein_coding",
          "start": 34280263,
          "end": 34311802,
          "strand": "-",
          "slug": "ahcy"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-congenital-and-juvenile-cataract",
        "name": "Arvelig medfødt og juvenil katarakt",
        "diseases": [
          {
            "mondoId": "MONDO:0011060",
            "name": "Ikke-syndromisk katarakt med tidlig debut",
            "genes": 22,
            "inheritance": null,
            "description": "Katarakt som oppstår ved fødselen eller tidlig i livet uten andre trekk, forårsaket av endringer i linsegener som krystallinene (CRYAA, CRYBB2, CRYGD og andre), GJA3, GJA8 og MIP.",
            "management": "Tidlig oppdagelse og operasjon hos barn bidrar til å forhindre varig synstap på grunn av amblyopi, og familiemedlemmer kan tilbys øyekontroller.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hereditary-congenital-and-juvenile-cataract"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anterior-subcapsular-cataract",
        "name": "Anterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/anterior-subcapsular-cataract"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "nuclear-cataract",
        "name": "Yellowish cloudy center of lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nuclear-cataract"
      }
    ],
    "related": [
      {
        "slug": "bfsp1",
        "symbol": "BFSP1",
        "name": "beaded filament structural protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/bfsp1"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "name": "crystallin alpha B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cryab"
      },
      {
        "slug": "cryba1",
        "symbol": "CRYBA1",
        "name": "crystallin beta A1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cryba1"
      },
      {
        "slug": "cryba2",
        "symbol": "CRYBA2",
        "name": "crystallin beta A2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cryba2"
      },
      {
        "slug": "cryba4",
        "symbol": "CRYBA4",
        "name": "crystallin beta A4",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cryba4"
      },
      {
        "slug": "crybb1",
        "symbol": "CRYBB1",
        "name": "crystallin beta B1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/crybb1"
      },
      {
        "slug": "crybb3",
        "symbol": "CRYBB3",
        "name": "crystallin beta B3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/crybb3"
      },
      {
        "slug": "crygs",
        "symbol": "CRYGS",
        "name": "crystallin gamma S",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/crygs"
      },
      {
        "slug": "epha2",
        "symbol": "EPHA2",
        "name": "EPH receptor A2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/epha2"
      },
      {
        "slug": "gcnt2",
        "symbol": "GCNT2",
        "name": "glucosaminyl (N-acetyl) transferase 2 (I blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gcnt2"
      },
      {
        "slug": "gja3",
        "symbol": "GJA3",
        "name": "gap junction protein alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gja3"
      },
      {
        "slug": "hsf4",
        "symbol": "HSF4",
        "name": "heat shock transcription factor 4",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/hsf4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}