{ "url": "https://dantelabs.com/no/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" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 27364352, "end": 27370338, "strand": "-", "ensemblTranscript": "ENST00000347454.9", "refseqTranscript": "NM_001034116.2", "ensemblProtein": "ENSP00000233552.6", "refseqProtein": "NP_001029288.1", "exons": [ { "start": 27364352, "end": 27364599 }, { "start": 27364718, "end": 27364898 }, { "start": 27366759, "end": 27366936 }, { "start": 27367074, "end": 27367201 }, { "start": 27367457, "end": 27367559 }, { "start": 27367746, "end": 27367822 }, { "start": 27368025, "end": 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"ENSG00000084693", "biotype": "protein_coding", "start": 27042364, "end": 27070622, "strand": "+", "slug": "agbl5" }, { "symbol": "OST4", "ensemblId": "ENSG00000228474", "biotype": "protein_coding", "start": 27058735, "end": 27073830, "strand": "-", "slug": "ost4" }, { "symbol": "EMILIN1", "ensemblId": "ENSG00000138080", "biotype": "protein_coding", "start": 27078044, "end": 27086408, "strand": "+", "slug": "emilin1" }, { "symbol": "KHK", "ensemblId": "ENSG00000138030", "biotype": "protein_coding", "start": 27086723, "end": 27100777, "strand": "+", "slug": "khk" }, { "symbol": "CGREF1", "ensemblId": "ENSG00000138028", "biotype": "protein_coding", "start": 27098853, "end": 27119139, "strand": "-", "slug": "cgref1" }, { "symbol": "ABHD1", "ensemblId": "ENSG00000143994", "biotype": "protein_coding", "start": 27123789, "end": 27130812, "strand": "+", "slug": "abhd1" }, { "symbol": "PREB", "ensemblId": "ENSG00000138073", "biotype": "protein_coding", "start": 27129153, "end": 27134689, "strand": "-", "slug": "preb" }, { "symbol": "PRR30", "ensemblId": "ENSG00000186143", "biotype": "protein_coding", "start": 27136848, "end": 27139410, "strand": "-", "slug": "prr30" }, { "symbol": "TCF23", "ensemblId": "ENSG00000163792", "biotype": "protein_coding", "start": 27148999, "end": 27156974, "strand": "+", "slug": "tcf23" }, { "symbol": "SLC5A6", "ensemblId": "ENSG00000138074", "biotype": "protein_coding", "start": 27199587, "end": 27212958, "strand": "-", "slug": "slc5a6" }, { "symbol": "ATRAID", "ensemblId": "ENSG00000138085", "biotype": "protein_coding", "start": 27212012, "end": 27217178, "strand": "+", "slug": "atraid" }, { "symbol": "CAD", "ensemblId": "ENSG00000084774", "biotype": "protein_coding", "start": 27217345, "end": 27245683, "strand": "+", "slug": "cad" }, { "symbol": "SLC30A3", "ensemblId": "ENSG00000115194", "biotype": "protein_coding", "start": 27253509, "end": 27275817, "strand": "-", "slug": "slc30a3" }, { "symbol": "DNAJC5G", "ensemblId": "ENSG00000163793", "biotype": "protein_coding", "start": 27275430, "end": 27281499, "strand": "+", "slug": "dnajc5g" }, { "symbol": "TRIM54", "ensemblId": "ENSG00000138100", "biotype": "protein_coding", "start": 27282366, "end": 27309400, "strand": "+", "slug": "trim54" }, { "symbol": "UCN", "ensemblId": "ENSG00000163794", "biotype": "protein_coding", "start": 27307400, "end": 27308445, "strand": "-", "slug": "ucn" }, { "symbol": "MPV17", "ensemblId": "ENSG00000115204", "biotype": "protein_coding", "start": 27309486, "end": 27325680, "strand": "-", "slug": "mpv17" }, { "symbol": "GTF3C2", "ensemblId": "ENSG00000115207", "biotype": "protein_coding", "start": 27324198, "end": 27357566, "strand": "-", "slug": "gtf3c2" }, { "symbol": "SNX17", "ensemblId": "ENSG00000115234", "biotype": "protein_coding", "start": 27370496, "end": 27377535, "strand": "+", "slug": "snx17" }, { "symbol": "ZNF513", "ensemblId": "ENSG00000163795", "biotype": "protein_coding", "start": 27377235, "end": 27380790, "strand": "-", "slug": "znf513" }, { "symbol": "PPM1G", "ensemblId": "ENSG00000115241", "biotype": "protein_coding", "start": 27381194, "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, "end": 27446486, "strand": "+", "slug": "krtcap3" }, { "symbol": "IFT172", "ensemblId": "ENSG00000138002", "biotype": "protein_coding", "start": 27444374, "end": 27489839, "strand": "-", "slug": "ift172" }, { "symbol": "FNDC4", "ensemblId": "ENSG00000115226", "biotype": "protein_coding", "start": 27491260, "end": 27495631, "strand": "-", "slug": "fndc4" }, { "symbol": "GCKR", "ensemblId": "ENSG00000084734", "biotype": "protein_coding", "start": 27496055, "end": 27523688, "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, "end": 27629018, "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": "Vanishing White Matter-sykdom", "diseases": [ { "mondoId": "MONDO:0800448", "name": "Leukoencefalopati med vanishing white matter (EIF2B1 til EIF2B5)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Gir progressiv ataksi og spastisitet med trinnvis forverring etter belastninger som feber eller hodetraume. Debut kan variere fra før fødselen til voksen alder, og noen kvinner har også tidlig ovarie­svikt.", "management": "Å kjenne diagnosen gjør det mulig for familier å forebygge og raskt behandle feber og infeksjoner, og å unngå hodeskader, som kan utløse perioder med forverring.", "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/no/conditions/vanishing-white-matter-disease" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Arvelige nevrodegenerative sykdommer", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A-relatert nevrodegenerativ sykdom", "genes": 372, "inheritance": "autosomal-dominant", "description": "Forårsaket av endringer i én kopi av KIF5A, som koder for et motorprotein med en halevedel som binder last. Ulike typer endringer fører til ulike tilstander: hereditær spastisk paraplegi type 10, en aksonal form av Charcot-Marie-Tooths sykdom og amyotrofisk lateralsklerose (ALS).", "management": "Behandlingen er symptomatisk og avhenger av sykdomsbildet, og omfatter fysioterapi, legemidler mot spastisitet og tverrfaglig ALS-oppfølging. Hvert barn av en berørt person har 1 av 2 sjanse for å arve endringen; genetisk veiledning hjelper familier å forstå dette.", "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/no/conditions/inherited-neurodegenerative-disorders-selected-genes" }, { "slug": "leukodystrophy", "name": "Andre arvelige leukodystrofier", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofi (andre og uspesifiserte typer)", "genes": 80, "inheritance": null, "description": "Arvelige tilstander som skader eller hindrer normal dannelse av myelin, den hvite substansen i hjernen og ryggmargen. De ulike typene arves autosomalt recessivt, autosomalt dominant eller X-bundet, avhengig av genet som er involvert.", "management": "Kjennskap til den spesifikke genetiske årsaken kan avslutte en diagnostisk leting, veilede støttende behandling og oppfølging, vise om en spesifikk behandling finnes, og gjøre det mulig å teste slektninger.", "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/no/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": 3, "url": "https://dantelabs.com/no/genes/aars2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 3, "url": "https://dantelabs.com/no/genes/eif2b1" }, { "slug": "eif2b2", "symbol": "EIF2B2", "name": "eukaryotic translation initiation factor 2B subunit beta", "shared": 3, "url": "https://dantelabs.com/no/genes/eif2b2" }, { "slug": "eif2b3", "symbol": "EIF2B3", "name": "eukaryotic translation initiation factor 2B subunit gamma", "shared": 3, "url": "https://dantelabs.com/no/genes/eif2b3" }, { "slug": "eif2b5", "symbol": "EIF2B5", "name": "eukaryotic translation initiation factor 2B subunit epsilon", "shared": 3, "url": "https://dantelabs.com/no/genes/eif2b5" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 2, "url": "https://dantelabs.com/no/genes/aars1" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/no/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 2, "url": "https://dantelabs.com/no/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 2, "url": "https://dantelabs.com/no/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/no/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 2, "url": "https://dantelabs.com/no/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 2, "url": "https://dantelabs.com/no/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }