EIF2B2

EIF2B2
Identifiers
Aliases	EIF2B2,EIF-2Bbeta, EIF2B, eukaryotic translation initiation factor 2B subunit beta, EIF2Bbeta
External IDs	OMIM:606454;MGI:2145118;HomoloGene:6507;GeneCards:EIF2B2;OMA:EIF2B2 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) Band 14q24.3 Start 75,002,921bp End 75,012,366bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 D1 Start 85,266,255bp End 85,273,402bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in left lobe of thyroid gland right lobe of thyroid gland right adrenal cortex gastrocnemius muscle left adrenal gland muscle of thigh left adrenal cortex popliteal artery tibial arteries mucosa of transverse colon Top expressed in condyle fossa renal corpuscle internal carotid artery external carotid artery endocardial cushion saccule yolk sac substantia nigra medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function translation initiation factor activity guanyl-nucleotide exchange factor activity GTP binding protein binding ATP binding Cellular component cytoplasm cytosol eukaryotic translation initiation factor 2B complex Biological process response to peptide hormone response to heat response to glucose central nervous system development cell metabolism ovarian follicle development myelination oligodendrocyte development regulation of translational initiation protein biosynthesis translational initiation T cell receptor signaling pathway Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 8892 217715 Ensembl ENSG00000119718 ENSMUSG00000004788 UniProt P49770 Q99LD9 RefSeq (mRNA) NM_014239 NM_145445 RefSeq (protein) NP_055054 NP_663420 Location (UCSC) Chr 14: 75 – 75.01 Mb Chr 12: 85.27 – 85.27 Mb PubMedsearch
Wikidata
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Translation initiation factor eIF-2B subunit betais aproteinthat in humans is encoded by theEIF2B2gene.

Function

Eukaryotic initiation factor-2B (EIF2B) is a GTP exchange protein essential for protein synthesis. It consists of Alpha (EIF2B1; MIM 606686), beta (EIF2B2), gamma (EIF2B3; MIM 606273), delta (EIF2B4; MIM 606687), and epsilon (EIF2B5; MIM 603945) subunits. EIF2B activates its EIF2 (see MIM 603907) substrate by exchanging EIF2-bound GDP for GTP.

Interactions

EIF2B2 has been shown tointeractwithEIF2B5andNCK1.

Further reading

• Labauge P, Fogli A, Niel F, Rodriguez D, Boespflug-Tanguy O (2007). "[CACH/VWM syndrome and leucodystrophies related to EIF2B mutations]".Rev. Neurol. (Paris).163(8–9): 793–9.doi:10.1016/s0035-3787(07)91461-7.PMID17878805.
• Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease".Nature.375(6534): 754–760.Bibcode:1995Natur.375..754S.doi:10.1038/375754a0.PMID7596406.S2CID4308372.
• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A" double adaptor "method for improved shotgun library construction".Anal. Biochem.236(1): 107–113.doi:10.1006/abio.1996.0138.PMID8619474.
• Welsh GI, Miyamoto S, Price NT, Safer B, Proud CG (1996)."T-cell activation leads to rapid stimulation of translation initiation factor eIF2B and inactivation of glycogen synthase kinase-3".J. Biol. Chem.271(19): 11410–11413.doi:10.1074/jbc.271.19.11410.PMID8626696.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997)."Large-scale concatenation cDNA sequencing".Genome Res.7(4): 353–8.doi:10.1101/gr.7.4.353.PMC139146.PMID9110174.
• Kimball SR, Heinzinger NK, Horetsky RL, Jefferson LS (1998)."Identification of interprotein interactions between the subunits of eukaryotic initiation factors eIF2 and eIF2B".J. Biol. Chem.273(5): 3039–3044.doi:10.1074/jbc.273.5.3039.PMID9446619.
• Gomez E, Pavitt GD (2000)."Identification of domains and residues within the epsilon subunit of eukaryotic translation initiation factor 2B (eIF2Bepsilon) required for guanine nucleotide exchange reveals a novel activation function promoted by eIF2B complex formation".Mol. Cell. Biol.20(11): 3965–3976.doi:10.1128/MCB.20.11.3965-3976.2000.PMC85753.PMID10805739.
• Anthony TG, Fabian JR, Kimball SR, Jefferson LS (2000). "Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation".Biochim. Biophys. Acta.1492(1): 56–62.doi:10.1016/S0167-4781(00)00062-2.PMID10858531.
• Williams DD, Price NT, Loughlin AJ, Proud CG (2001)."Characterization of the mammalian initiation factor eIF2B complex as a GDP dissociation stimulator protein".J. Biol. Chem.276(27): 24697–24703.doi:10.1074/jbc.M011788200.PMID11323413.
• Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS (2001). "Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter".Nat. Genet.29(4): 383–388.doi:10.1038/ng764.PMID11704758.S2CID20313523.
• Kebache S, Zuo D, Chevet E, Larose L (2002)."Modulation of protein translation by Nck-1".Proc. Natl. Acad. Sci. U.S.A.99(8): 5406–5411.Bibcode:2002PNAS...99.5406K.doi:10.1073/pnas.082483399.PMC122782.PMID11959995.
• Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Boespflug-Tanguy O, Bertini E (2003). "A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation".Neurology.59(12): 1966–8.doi:10.1212/01.wnl.0000041666.76863.47.PMID12499492.S2CID13129517.
• Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O (2003)."Ovarian failure related to eukaryotic initiation factor 2B mutations".Am. J. Hum. Genet.72(6): 1544–1550.doi:10.1086/375404.PMC1180314.PMID12707859.
• van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC (2004)."eIF2B-related disorders: antenatal onset and involvement of multiple organs".Am. J. Hum. Genet.73(5): 1199–1207.doi:10.1086/379524.PMC1180499.PMID14566705.
• Richardson JP, Mohammad SS, Pavitt GD (2004)."Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity".Mol. Cell. Biol.24(6): 2352–2363.doi:10.1128/MCB.24.6.2352-2363.2004.PMC355856.PMID14993275.
• Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O (2005)."Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients".Eur. J. Hum. Genet.12(7): 561–566.doi:10.1038/sj.ejhg.5201189.PMID15054402.
• Li W, Wang X, Van Der Knaap MS, Proud CG (2004)."Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways".Mol. Cell. Biol.24(8): 3295–3306.doi:10.1128/MCB.24.8.3295-3306.2004.PMC381664.PMID15060152.