{
  "url": "https://dantelabs.com/fi/genes/eif2b4",
  "gene": {
    "slug": "eif2b4",
    "symbol": "EIF2B4",
    "name": "eukaryotic translation initiation factor 2B subunit delta",
    "hgnc": "HGNC:3260",
    "summary": null,
    "location": "2p23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "EIF2Bdelta",
      "EIF-2B",
      "DKFZP586J0119",
      "EIF2B"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115211",
    "entrezId": 8890,
    "omim": [
      "606687"
    ],
    "uniprot": [
      "Q9UI10"
    ],
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      "release": "v1.5",
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      "end": 27370338,
      "strand": "-",
      "ensemblTranscript": "ENST00000347454.9",
      "refseqTranscript": "NM_001034116.2",
      "ensemblProtein": "ENSP00000233552.6",
      "refseqProtein": "NP_001029288.1",
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        "end": 27370314
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          "symbol": "DPYSL5",
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          "biotype": "protein_coding",
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        {
          "symbol": "MAPRE3",
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          "symbol": "OST4",
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          "symbol": "EMILIN1",
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          "slug": "emilin1"
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          "symbol": "KHK",
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          "symbol": "CGREF1",
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        {
          "symbol": "ABHD1",
          "ensemblId": "ENSG00000143994",
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        {
          "symbol": "PREB",
          "ensemblId": "ENSG00000138073",
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          "symbol": "PRR30",
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        {
          "symbol": "TCF23",
          "ensemblId": "ENSG00000163792",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "SLC5A6",
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          "biotype": "protein_coding",
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        {
          "symbol": "ATRAID",
          "ensemblId": "ENSG00000138085",
          "biotype": "protein_coding",
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        {
          "symbol": "CAD",
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        {
          "symbol": "SLC30A3",
          "ensemblId": "ENSG00000115194",
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        {
          "symbol": "DNAJC5G",
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          "biotype": "protein_coding",
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        {
          "symbol": "TRIM54",
          "ensemblId": "ENSG00000138100",
          "biotype": "protein_coding",
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          "slug": "trim54"
        },
        {
          "symbol": "UCN",
          "ensemblId": "ENSG00000163794",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ucn"
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        {
          "symbol": "MPV17",
          "ensemblId": "ENSG00000115204",
          "biotype": "protein_coding",
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          "slug": "mpv17"
        },
        {
          "symbol": "GTF3C2",
          "ensemblId": "ENSG00000115207",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "gtf3c2"
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        {
          "symbol": "SNX17",
          "ensemblId": "ENSG00000115234",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "ZNF513",
          "ensemblId": "ENSG00000163795",
          "biotype": "protein_coding",
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          "end": 27380790,
          "strand": "-",
          "slug": "znf513"
        },
        {
          "symbol": "PPM1G",
          "ensemblId": "ENSG00000115241",
          "biotype": "protein_coding",
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          "end": 27409674,
          "strand": "-",
          "slug": "ppm1g"
        },
        {
          "symbol": "NRBP1",
          "ensemblId": "ENSG00000115216",
          "biotype": "protein_coding",
          "start": 27427790,
          "end": 27442260,
          "strand": "+",
          "slug": "nrbp1"
        },
        {
          "symbol": "KRTCAP3",
          "ensemblId": "ENSG00000157992",
          "biotype": "protein_coding",
          "start": 27442337,
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          "strand": "+",
          "slug": "krtcap3"
        },
        {
          "symbol": "IFT172",
          "ensemblId": "ENSG00000138002",
          "biotype": "protein_coding",
          "start": 27444374,
          "end": 27489839,
          "strand": "-",
          "slug": "ift172"
        },
        {
          "symbol": "FNDC4",
          "ensemblId": "ENSG00000115226",
          "biotype": "protein_coding",
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          "end": 27495631,
          "strand": "-",
          "slug": "fndc4"
        },
        {
          "symbol": "GCKR",
          "ensemblId": "ENSG00000084734",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "gckr"
        },
        {
          "symbol": "SPATA31H1",
          "ensemblId": "ENSG00000221843",
          "biotype": "protein_coding",
          "start": 27537386,
          "end": 27582722,
          "strand": "+",
          "slug": "spata31h1"
        },
        {
          "symbol": "ZNF512",
          "ensemblId": "ENSG00000243943",
          "biotype": "protein_coding",
          "start": 27582969,
          "end": 27623217,
          "strand": "+",
          "slug": "znf512"
        },
        {
          "symbol": "CCDC121",
          "ensemblId": "ENSG00000176714",
          "biotype": "protein_coding",
          "start": 27625535,
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          "strand": "-",
          "slug": "ccdc121"
        },
        {
          "symbol": "GPN1",
          "ensemblId": "ENSG00000198522",
          "biotype": "protein_coding",
          "start": 27628247,
          "end": 27652152,
          "strand": "+",
          "slug": "gpn1"
        },
        {
          "symbol": "SUPT7L",
          "ensemblId": "ENSG00000119760",
          "biotype": "protein_coding",
          "start": 27642568,
          "end": 27663847,
          "strand": "-",
          "slug": "supt7l"
        },
        {
          "symbol": "SLC4A1AP",
          "ensemblId": "ENSG00000163798",
          "biotype": "protein_coding",
          "start": 27663426,
          "end": 27695756,
          "strand": "+",
          "slug": "slc4a1ap"
        },
        {
          "symbol": "MRPL33",
          "ensemblId": "ENSG00000243147",
          "biotype": "protein_coding",
          "start": 27771683,
          "end": 27781484,
          "strand": "+",
          "slug": "mrpl33"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000310603",
          "biotype": "protein_coding",
          "start": 27771739,
          "end": 27988087,
          "strand": "+"
        },
        {
          "symbol": "RBKS",
          "ensemblId": "ENSG00000171174",
          "biotype": "protein_coding",
          "start": 27780857,
          "end": 27890681,
          "strand": "-",
          "slug": "rbks"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "vanishing-white-matter-disease",
        "name": "Katoavan valkean aineen tauti",
        "diseases": [
          {
            "mondoId": "MONDO:0800448",
            "name": "Leukoenkefalopatia katoavan valkean aineen kanssa (EIF2B1–EIF2B5)",
            "genes": 6,
            "inheritance": "autosomal-recessive",
            "description": "Aiheuttaa etenevää ataksiaa ja spastisuutta, ja toimintakyky heikkenee portaittain kuumeen tai päävamman kaltaisten rasitusten jälkeen. Oireet voivat alkaa jo ennen syntymää tai aikuisiällä, ja osalla naisista esiintyy myös varhaista munasarjojen vajaatoimintaa.",
            "management": "Diagnoosin tunteminen auttaa perheitä ehkäisemään ja hoitamaan kuumetta ja infektioita nopeasti sekä välttämään päävammoja, jotka voivat laukaista toimintakyvyn heikkenemisjaksoja.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/vanishing-white-matter-disease"
      },
      {
        "slug": "leukodystrophy",
        "name": "Muut perinnölliset leukodystrofiat",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofia (muut ja määrittelemättömät tyypit)",
            "genes": 80,
            "inheritance": null,
            "description": "Perinnölliset sairaudet, jotka vahingoittavat myeliinituppea eli aivojen ja selkäytimen valkeaa ainetta tai estävät sen normaalin muodostumisen. Eri tyypit periytyvät autosomaalisesti resessiivisesti, autosomaalisesti dominantisti tai X-kromosomaalisesti sen mukaan, mikä geeni on kyseessä.",
            "management": "Tiedossa oleva geneettinen syy voi lopettaa diagnoosin etsimisen, ohjata tukihoitoa ja seurantaa, osoittaa, onko olemassa tiettyä hoitoa, sekä mahdollistaa sukulaisten testauksen.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "corpus-callosum-atrophy",
        "name": "Corpus callosum atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corpus-callosum-atrophy"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-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": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/aars2"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/eif2b1"
      },
      {
        "slug": "eif2b2",
        "symbol": "EIF2B2",
        "name": "eukaryotic translation initiation factor 2B subunit beta",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/eif2b2"
      },
      {
        "slug": "eif2b3",
        "symbol": "EIF2B3",
        "name": "eukaryotic translation initiation factor 2B subunit gamma",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/eif2b3"
      },
      {
        "slug": "eif2b5",
        "symbol": "EIF2B5",
        "name": "eukaryotic translation initiation factor 2B subunit epsilon",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/eif2b5"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aars1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aldh3a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}