LOCUS       NM_014239               4304 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens eukaryotic translation initiation factor 2B subunit
            beta (EIF2B2), mRNA.
ACCESSION   NM_014239
VERSION     NM_014239.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4304)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4304)
  AUTHORS   Norris,K., Hodgson,R.E., Dornelles,T., Allen,K.E., Abell,B.M.,
            Ashe,M.P. and Campbell,S.G.
  TITLE     Mutational analysis of the alpha subunit of eIF2B provides insights
            into the role of eIF2B bodies in translational control and VWM
            disease
  JOURNAL   J Biol Chem 296, 100207 (2021)
   PUBMED   33334879
  REMARK    GeneRIF: Mutational analysis of the alpha subunit of eIF2B provides
            insights into the role of eIF2B bodies in translational control and
            VWM disease.
REFERENCE   3  (bases 1 to 4304)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 4304)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4304)
  AUTHORS   Gomez,E. and Pavitt,G.D.
  TITLE     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
  JOURNAL   Mol Cell Biol 20 (11), 3965-3976 (2000)
   PUBMED   10805739
REFERENCE   6  (bases 1 to 4304)
  AUTHORS   Kimball,S.R., Heinzinger,N.K., Horetsky,R.L. and Jefferson,L.S.
  TITLE     Identification of interprotein interactions between the subunits of
            eukaryotic initiation factors eIF2 and eIF2B
  JOURNAL   J Biol Chem 273 (5), 3039-3044 (1998)
   PUBMED   9446619
REFERENCE   7  (bases 1 to 4304)
  AUTHORS   Yang,W. and Hinnebusch,A.G.
  TITLE     Identification of a regulatory subcomplex in the guanine nucleotide
            exchange factor eIF2B that mediates inhibition by phosphorylated
            eIF2
  JOURNAL   Mol Cell Biol 16 (11), 6603-6616 (1996)
   PUBMED   8887689
REFERENCE   8  (bases 1 to 4304)
  AUTHORS   Welsh,G.I., Miyamoto,S., Price,N.T., Safer,B. and Proud,C.G.
  TITLE     T-cell activation leads to rapid stimulation of translation
            initiation factor eIF2B and inactivation of glycogen synthase
            kinase-3
  JOURNAL   J Biol Chem 271 (19), 11410-11413 (1996)
   PUBMED   8626696
REFERENCE   9  (bases 1 to 4304)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 4304)
  AUTHORS   van der Knaap,M.S., Fogli,A., Boespflug-Tanguy,O., Abbink,T.E.M.
            and Schiffmann,R.
  TITLE     Childhood Ataxia with Central Nervous System Hypomyelination /
            Vanishing White Matter
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301435
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL049780.4, BC011750.2 and AI265790.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014239.3.
            
            Summary: This gene encodes the beta subunit of eukaryotic
            initiation factor-2B (EIF2B). EIF2B is involved in protein
            synthesis and exchanges GDP and GTP for its activation and
            deactivation. [provided by RefSeq, Aug 2011].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.384109.1,
                                           SRR1803613.254333.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266126.10/ ENSP00000266126.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AL049780.4         158787-158833       c
            48-1527             BC011750.2         1-1480
            1528-1529           AI265790.1         17-18               c
            1530-4304           AL049780.4         149388-152162       c
FEATURES             Location/Qualifiers
     source          1..4304
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..4304
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /note="eukaryotic translation initiation factor 2B subunit
                     beta"
                     /db_xref="GeneID:8892"
                     /db_xref="HGNC:HGNC:3258"
                     /db_xref="MIM:606454"
     exon            1..233
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1126
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /note="translation initiation factor eIF-2B subunit beta;
                     S20I15; S20III15; eIF-2B GDP-GTP exchange factor subunit
                     beta; eukaryotic translation initiation factor 2B, subunit
                     2 beta, 39kDa; eIF2B GDP-GTP exchange factor subunit beta"
                     /codon_start=1
                     /product="translation initiation factor eIF2B subunit
                     beta"
                     /protein_id="NP_055054.1"
                     /db_xref="CCDS:CCDS9836.1"
                     /db_xref="GeneID:8892"
                     /db_xref="HGNC:HGNC:3258"
                     /db_xref="MIM:606454"
                     /translation="MPGSAAKGSELSERIESFVETLKRGGGPRSSEEMARETLGLLRQ
                     IITDHRWSNAGELMELIRREGRRMTAAQPSETTVGNMVRRVLKIIREEYGRLHGRSDE
                     SDQQESLHKLLTSGGLNEDFSFHYAQLQSNIIEAINELLVELEGTMENIAAQALEHIH
                     SNEVIMTIGFSRTVEAFLKEAARKRKFHVIVAECAPFCQGHEMAVNLSKAGIETTVMT
                     DAAIFAVMSRVNKVIIGTKTILANGALRAVTGTHTLALAAKHHSTPLIVCAPMFKLSP
                     QFPNEEDSFHKFVAPEEVLPFTEGDILEKVSVHCPVFDYVPPELITLFISNIGGNAPS
                     YIYRLMSELYHPDDHVL"
     exon            234..354
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     exon            355..503
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     exon            504..667
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     exon            668..763
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     exon            764..901
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     exon            902..968
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     exon            969..4304
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1506..1511
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /note="hexamer: AATAAA"
     polyA_site      1527
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /note="major polyA site"
     regulatory      4284..4289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
                     /note="hexamer: AATAAA"
     polyA_site      4304
                     /gene="EIF2B2"
                     /gene_synonym="EIF-2Bbeta; EIF2B; EIF2Bbeta; VWM2"
ORIGIN      
        1 ggaagtgcaa actgtgtggt ctggcaggtg tggattccgc cggtgaaggc tgaaggcagc
       61 taccttaaag atgccgggat ccgcagcgaa gggctcggag ttgtcagaga ggatcgagag
      121 cttcgtggag accctgaagc ggggtggtgg gccgcgcagc tccgaggaaa tggctcggga
      181 gaccctaggg ttgctgcgcc agatcatcac ggaccaccgc tggagcaacg cgggggagct
      241 gatggagctg atccgcagag agggcaggag gatgacggcc gctcagccct ccgagaccac
      301 cgtgggcaac atggtgcgga gagtgctcaa gattatccgg gaggagtatg gcagactcca
      361 tggacgcagc gacgagagtg atcagcagga gtccctgcac aaactgttga catccggagg
      421 cctaaacgag gatttcagct tccattatgc ccaactccag tccaacatca ttgaggcgat
      481 taatgagctg ctagtggagc tggaagggac aatggagaac attgcagccc aggctctgga
      541 gcacattcac tccaatgagg tgatcatgac cattggcttc tcccgaacag tagaggcctt
      601 cctcaaagag gctgcccgaa agaggaaatt ccatgtcatt gtagcagagt gtgctccttt
      661 ctgccagggt catgaaatgg ctgtgaattt gtccaaagca ggtattgaga caactgtcat
      721 gactgatgct gccatttttg ccgttatgtc aagagtcaac aaggtgatca ttggcacgaa
      781 gaccatcctg gccaatgggg ccctgagagc tgtgacagga actcacactc tggcactggc
      841 agcaaaacac cattccaccc cactcatcgt ctgtgcacct atgttcaaac tttctccaca
      901 gttccccaat gaagaagact catttcataa gtttgtggct cctgaagaag tcctgccatt
      961 cacagaaggg gacattctgg agaaggtcag cgtgcattgc cctgtgtttg actacgttcc
     1021 cccagagctc attaccctct ttatctccaa cattggtggg aatgcacctt cctacatcta
     1081 ccgcctgatg agtgaactct accatcctga tgatcatgtt ttatgaccga ccacacgtgt
     1141 cctaagcaga ttgcttaggc agatacagaa tgaagaggag acttgagtgt tgctgctgaa
     1201 gcacatcctt gcaatgtggg agtgcacagg agtccaccta aaaaaaaaat ccttgatact
     1261 gttgcctgcc tttttagtca ccccgtaaca agggcacaca tccaggactg tgtcttgcct
     1321 ttcagatctt aacagagcag cagggcttaa cttgttgatt ttggagcctc ttagtgacct
     1381 ggttgcgtct gtgtcaggaa cttaaacttt ctggttcagt agtgtgttaa acataacact
     1441 gaatacctta ctgggataca gatttttgct cagaaatggc tatgacactt tttctaggct
     1501 ctaccaataa aagccacttg aaggttccat agttggttta tttattgtcc tactctgaca
     1561 gaactgcttg aaacagcagc agcagagcct tttttgtgtt tgcatagagg gctgtagtta
     1621 gcgggaaaag tgtacaacat ggtagtactg gccagatgca gtggctccca cttgtaatcc
     1681 tggactttgg gaggctgagg tgggaggctt gtttgaggct tgtttgaggc ctggagtttg
     1741 agattagcct ggcaacatag caagatcctg tctctacaaa aaaatatttt aaaaaattag
     1801 ccagacatgg tggcacatgc ctgtggcctc gctatgctgg aggctgaggt gggaggatca
     1861 cttgagccca tgagttcaag gcttcagtga gctatcattg taccactgca ctcctgcctg
     1921 gatgatagag caagactctg tctctaaaaa aataacaagt acaaatgaaa gtatagtttc
     1981 ctttacaatt cactgctcct ggccccaaag tttgttcata gtctaaaaca gtagttccaa
     2041 aacctcgctg atcatcagaa tcacctgaga gtgattccga tcactcactc acacagtctt
     2101 gggtttcatc tcagtcctac tgcatctgat ctcagggtta ctacctggga atctgtttaa
     2161 agcttcccag aaaaggatag tctcatgtag tgtttatagg actataaatt ggtacagcct
     2221 tttagagggc aatttggaag ctgtatttct agaattattt gtacaagcaa aaagatttat
     2281 acagagtgtt cagtgtagta gttgtaatgt catagcctaa gtgtccagca ataggagaaa
     2341 ggttaagtat tgacagttac accgtggaac attatacatg gcaatagaag tttcaaaagg
     2401 atggctggag gggcagtgtc tggattgaag gcatttgggc tggttcactg catttaatgt
     2461 gaatttgtta ccaatattta aaaatctgga gattgcacat ttcaaaaatt cagatttctt
     2521 gcttttcttg aaaactcaaa tttggcaact ctgggccaac atttccaaat ggcagtagtt
     2581 agtttgtggt tgggtaacat ctgatgccat tggatggaac atctccagtt ttctgcagtt
     2641 cctactggat ccatttaact catttatgtt atctgcctaa cccctgtagg catttgagtt
     2701 gtgatcctgg tgttaaaaga atgggacaga tttgcaagga agtccatttg atactctgtt
     2761 agttaaaaac aagctgggga aaaaaaacac aacaagctgc agagcaatat gcataatacg
     2821 gactcatttc cataaaacaa cactggctgg gcgcaatggc tcacgcctat aatcccagca
     2881 ctttgggagg ctgaggaggg cagatcactt gaggtcagga gtttgagacc agcctggtca
     2941 aaatggcgaa actaaaatac tataataaaa tttttagttc cactaaaaat acaaaaatta
     3001 gccaggtgtg gttgtgggta cctgtagtcc cagctactcg ggaggctgaa cttgggaagt
     3061 agaggttgca gtgagcagtg ccattgggcc actgcacttt agcctgggca acagtgggtg
     3121 agactctgtc tcacaaaaac aaaacaaaat tatatgtaca cgcataggga aacagtatag
     3181 aagtataata ccaagcacag caagcagagg gacatcctct aattttgttg acatgtttat
     3241 gcttacatat tgtttccggt ttttaaccta aaaagtctcc caggtgatcc agattttctg
     3301 ccatgtttag gaactagtgg tccaaagcag ggcctcttgt gcagtgtctg tgtgggtgga
     3361 gggagcacta agaatctgca tgtttaacaa atagcctgtg ggctttgaac aggtgatttg
     3421 aaaccacatt ttggttaaca ctgggcagag gtaggttctg agggaaaggt ctctattctt
     3481 tgatatctct ttgagagcga tctttgcctt aggtcttcca gagaggggaa aaaagtaaga
     3541 cctcagaaag tcggcatttt acactgacct aaaagctgta tgactcagaa gagcctgact
     3601 cactcaggct cagtctttct attatttctt aaagcatcta agaccccacg ctttctcagt
     3661 gaagtggctt gtagctacca attacgagca attgtctcct ccaaaggcac caattctaac
     3721 agcaattcac ttgggtacaa ttgtgtggtt tggagtaaga gcagcagtga ggcaaggaac
     3781 ttaaatctgt tcctggctcc aaaaatgctt tatgatactt gtcctttgtc catcttagtc
     3841 tctgtgtcta aaattagcac caacatcctt cccaggcatg actgagttgg atgaaggtta
     3901 taagggtaga agctctcttt ctggtcagct cttacagtgc ctagaacaga actgcaggaa
     3961 tgcatacttt ttagaatctt tatgacccca attaagtaaa ccctattaag gctcatcttc
     4021 ttatttcccc tctctccgtt tccctatttg aggaggggta agtatcagaa agagagaacc
     4081 tgaactgaac aggaggaaac agaagttcca catcaactca ctacctgtca gccttggtat
     4141 caggggtgcc cacctcccac ccctgccttg ctggcggaac cgagaaactc ggaaaaaaac
     4201 aaacaaaaaa acaactgttg tagcttggag agaattaata gaactaggat tccatggatg
     4261 tgaaagtctt cctcaatatg ctaaataaac caagttagat aaca
//
