{ "url": "https://dantelabs.com/lt/genes/eif2b2", "gene": { "slug": "eif2b2", "symbol": "EIF2B2", "name": "eukaryotic translation initiation factor 2B subunit beta", "hgnc": "HGNC:3258", "summary": null, "location": "14q24.3", "locusType": "gene with protein product", "aliases": [ "EIF2B", "EIF-2Bbeta", "EIF2Bbeta" ], "previousSymbols": [], "ensemblId": "ENSG00000119718", "entrezId": 8892, "omim": [ "606454" ], "uniprot": [ "P49770" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 75002921, "end": 75012366, "strand": "+", "ensemblTranscript": "ENST00000266126.10", "refseqTranscript": "NM_014239.4", "ensemblProtein": "ENSP00000266126.5", "refseqProtein": "NP_055054.1", "exons": [ { "start": 75002921, "end": 75003153 }, { "start": 75003275, "end": 75003395 }, { "start": 75003551, "end": 75003699 }, { "start": 75004737, "end": 75004900 }, { "start": 75005866, "end": 75005961 }, { "start": 75006577, "end": 75006714 }, { "start": 75007722, "end": 75007788 }, { "start": 75009031, "end": 75012366 } ], "cds": { "start": 75002991, "end": 75009188 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "14", "start": 75469614, "end": 75476292, "strand": "+" }, "neighbourhood": { "release": "116", "start": 74507644, "end": 75507643, "genes": [ { "symbol": "LTBP2", "ensemblId": "ENSG00000119681", "biotype": "protein_coding", "start": 74498163, "end": 74612378, "strand": "-", "slug": "ltbp2" }, { "symbol": "AREL1", "ensemblId": "ENSG00000119682", "biotype": "protein_coding", "start": 74653437, "end": 74713117, "strand": "-", "slug": "arel1" }, { "symbol": "FCF1", "ensemblId": "ENSG00000119616", "biotype": "protein_coding", "start": 74713144, "end": 74750706, "strand": "+", "slug": "fcf1" }, { "symbol": "YLPM1", "ensemblId": "ENSG00000119596", "biotype": "protein_coding", "start": 74763289, "end": 74859435, "strand": "+", "slug": "ylpm1" }, { "symbol": "PROX2", "ensemblId": "ENSG00000119608", "biotype": "protein_coding", "start": 74852871, "end": 74876154, "strand": "-", "slug": "prox2" }, { "symbol": "DLST", "ensemblId": "ENSG00000119689", "biotype": "protein_coding", "start": 74881891, "end": 74903966, "strand": "+", "slug": "dlst" }, { "symbol": "RPS6KL1", "ensemblId": "ENSG00000198208", "biotype": "protein_coding", "start": 74903951, "end": 74923308, "strand": "-", "slug": "rps6kl1" }, { "symbol": "PGF", "ensemblId": "ENSG00000119630", "biotype": "protein_coding", "start": 74940965, "end": 74955626, "strand": "-", "slug": "pgf" }, { "symbol": "MLH3", "ensemblId": "ENSG00000119684", "biotype": "protein_coding", "start": 75013224, "end": 75051532, "strand": "-", "slug": "mlh3" }, { "symbol": "ACYP1", "ensemblId": "ENSG00000119640", "biotype": "protein_coding", "start": 75052937, "end": 75069486, "strand": "-", "slug": "acyp1" }, { "symbol": "ZC2HC1C", "ensemblId": "ENSG00000119703", "biotype": "protein_coding", "start": 75064109, "end": 75119502, "strand": "+", "slug": "zc2hc1c" }, { "symbol": "NEK9", "ensemblId": "ENSG00000119638", "biotype": "protein_coding", "start": 75079353, "end": 75127344, "strand": "-", "slug": "nek9" }, { "symbol": "TMED10", "ensemblId": "ENSG00000170348", "biotype": "protein_coding", "start": 75131106, "end": 75176652, "strand": "-", "slug": "tmed10" }, { "symbol": "FOS", "ensemblId": "ENSG00000170345", "biotype": "protein_coding", "start": 75278821, "end": 75283190, "strand": "+", "slug": "fos" }, { "symbol": "JDP2", "ensemblId": "ENSG00000140044", "biotype": "protein_coding", "start": 75427716, "end": 75474111, "strand": "+", "slug": "jdp2" } ], "truncated": false }, "reports": [ { "slug": "vanishing-white-matter-disease", "name": "Išnykstančios baltosios medžiagos liga", "diseases": [ { "mondoId": "MONDO:0800448", "name": "Leukoencefalopatija su išnykstančia baltąja medžiaga (EIF2B1–EIF2B5)", "genes": 6, "inheritance": "autosomal-recessive", "description": "Sukelia progresuojančią ataksiją ir spastiškumą, o po tokių stresinių veiksnių kaip karščiavimas ar galvos trauma būna laipsniškas pablogėjimas. Ligos pradžia gali būti nuo gimimo iki suaugusio amžiaus, o kai kurioms moterims taip pat pasireiškia ankstyvas kiaušidžių nepakankamumas.", "management": "Žinodamos diagnozę, šeimos gali užkirsti kelią karščiavimui ir infekcijoms, laiku juos gydyti bei vengti galvos traumų, kurios gali sukelti pablogėjimo epizodus.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/vanishing-white-matter-disease" }, { "slug": "leukodystrophy", "name": "Ostatinės paveldimos leukodistrofijos", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodistrofija (kiti ir nenurodyti tipai)", "genes": 80, "inheritance": null, "description": "Paveldimos ligos, kurios pažeidžia mielino apvalkalą arba trukdo jam tinkamai susidaryti – smegenų ir nugaros smegenų baltąją medžiagą. Skirtingi tipai paveldimi autosominiu recesyviniu, autosominiu dominantiniu arba X chromosomos būdu, priklausomai nuo susijusio geno.", "management": "Žinodami konkrečią genetinę priežastį, galite nutraukti diagnostinę paiešką, gauti tinkamesnę palaikomąją priežiūrą ir stebėseną, sužinoti, ar yra konkretus gydymas, ir įvertinti giminaičių tikrinimo galimybes.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "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": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "secondary-amenorrhea", "name": "Previous menstrual periods stop", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/secondary-amenorrhea" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unsteady-gait" } ], "related": [ { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 2, "url": "https://dantelabs.com/lt/genes/aars2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/lt/genes/eif2b1" }, { "slug": "eif2b3", "symbol": "EIF2B3", "name": "eukaryotic translation initiation factor 2B subunit gamma", "shared": 2, "url": "https://dantelabs.com/lt/genes/eif2b3" }, { "slug": "eif2b4", "symbol": "EIF2B4", "name": "eukaryotic translation initiation factor 2B subunit delta", "shared": 2, "url": "https://dantelabs.com/lt/genes/eif2b4" }, { "slug": "eif2b5", "symbol": "EIF2B5", "name": "eukaryotic translation initiation factor 2B subunit epsilon", "shared": 2, "url": "https://dantelabs.com/lt/genes/eif2b5" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars1" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/lt/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/lt/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }