LOCUS       NM_001967               1886 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2),
            mRNA.
ACCESSION   NM_001967
VERSION     NM_001967.4
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 1886)
  AUTHORS   Harrer,P., Skorvanek,M., Kittke,V., Dzinovic,I., Borngraber,F.,
            Thomsen,M., Mandel,V., Svorenova,T., Ostrozovicova,M.,
            Kulcsarova,K., Berutti,R., Busch,H., Ott,F., Kopajtich,R.,
            Prokisch,H., Kumar,K.R., Mencacci,N.E., Kurian,M.A., Di Fonzo,A.,
            Boesch,S., Kuhn,A.A., Blumlein,U., Lohmann,K., Haslinger,B.,
            Weise,D., Jech,R., Winkelmann,J. and Zech,M.
  TITLE     Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein
            Translation Dysfunction
  JOURNAL   Mov Disord 38 (10), 1914-1924 (2023)
   PUBMED   37485550
  REMARK    GeneRIF: Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder
            of Protein Translation Dysfunction.
REFERENCE   2  (bases 1 to 1886)
  AUTHORS   O'Sullivan,M.H. and Fraser,C.S.
  TITLE     Monitoring RNA restructuring in a human cell-free extract reveals
            eIF4A-dependent and eIF4A-independent unwinding activity
  JOURNAL   J Biol Chem 299 (7), 104936 (2023)
   PUBMED   37331603
  REMARK    GeneRIF: Monitoring RNA restructuring in a human cell-free extract
            reveals eIF4A-dependent and eIF4A-independent unwinding activity.
REFERENCE   3  (bases 1 to 1886)
  AUTHORS   Paul,M.S., Duncan,A.R., Genetti,C.A., Pan,H., Jackson,A.,
            Grant,P.E., Shi,J., Pinelli,M., Brunetti-Pierri,N.,
            Garza-Flores,A., Shahani,D., Saneto,R.P., Zampino,G., Leoni,C.,
            Agolini,E., Novelli,A., Blumlein,U., Haack,T.B., Heinritz,W.,
            Matzker,E., Alhaddad,B., Abou Jamra,R., Bartolomaeus,T.,
            AlHamdan,S., Carapito,R., Isidor,B., Bahram,S., Ritter,A.,
            Izumi,K., Shakked,B.P., Barel,O., Ben Zeev,B., Begtrup,A.,
            Carere,D.A., Mullegama,S.V., Palculict,T.B., Calame,D.G.,
            Schwan,K., Aycinena,A.R.P., Traberg,R., Douzgou,S., Pirt,H.,
            Ismayilova,N., Banka,S., Chao,H.T. and Agrawal,P.B.
  CONSRTM   Genomics England Research Consortium
  TITLE     Rare EIF4A2 variants are associated with a neurodevelopmental
            disorder characterized by intellectual disability, hypotonia, and
            epilepsy
  JOURNAL   Am J Hum Genet 110 (1), 120-145 (2023)
   PUBMED   36528028
  REMARK    GeneRIF: Rare EIF4A2 variants are associated with a
            neurodevelopmental disorder characterized by intellectual
            disability, hypotonia, and epilepsy.
            Erratum:[Am J Hum Genet. 2023 Mar 2;110(3):548. doi:
            10.1016/j.ajhg.2023.02.010.. PMID: 36868207]
REFERENCE   4  (bases 1 to 1886)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1886)
  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   6  (bases 1 to 1886)
  AUTHORS   Kyono,K., Miyashiro,M. and Taguchi,I.
  TITLE     Human eukaryotic initiation factor 4AII associates with hepatitis C
            virus NS5B protein in vitro
  JOURNAL   Biochem Biophys Res Commun 292 (3), 659-666 (2002)
   PUBMED   11922617
  REMARK    GeneRIF: interacted with NS5B protein, and the two proteins were
            shown to be partially colocalized in the perinuclear region
REFERENCE   7  (bases 1 to 1886)
  AUTHORS   Li,W., Belsham,G.J. and Proud,C.G.
  TITLE     Eukaryotic initiation factors 4A (eIF4A) and 4G (eIF4G) mutually
            interact in a 1:1 ratio in vivo
  JOURNAL   J Biol Chem 276 (31), 29111-29115 (2001)
   PUBMED   11408474
REFERENCE   8  (bases 1 to 1886)
  AUTHORS   Marcotrigiano,J., Lomakin,I.B., Sonenberg,N., Pestova,T.V.,
            Hellen,C.U. and Burley,S.K.
  TITLE     A conserved HEAT domain within eIF4G directs assembly of the
            translation initiation machinery
  JOURNAL   Mol Cell 7 (1), 193-203 (2001)
   PUBMED   11172724
REFERENCE   9  (bases 1 to 1886)
  AUTHORS   Sudo,K., Takahashi,E. and Nakamura,Y.
  TITLE     Isolation and mapping of the human EIF4A2 gene homologous to the
            murine protein synthesis initiation factor 4A-II gene Eif4a2
  JOURNAL   Cytogenet Cell Genet 71 (4), 385-388 (1995)
   PUBMED   8521730
REFERENCE   10 (bases 1 to 1886)
  AUTHORS   Yoder-Hill,J., Pause,A., Sonenberg,N. and Merrick,W.C.
  TITLE     The p46 subunit of eukaryotic initiation factor (eIF)-4F exchanges
            with eIF-4A
  JOURNAL   J Biol Chem 268 (8), 5566-5573 (1993)
   PUBMED   8449919
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from AL556981.3, D30655.1, BC015842.1 and BC013708.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001967.3.
            
            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 :: SRR3476690.451881.1,
                                           SRR3476690.1008.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323963.10/ ENSP00000326381.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AL556981.3         6-24
            20-669              D30655.1           1-650
            670-1880            BC015842.1         674-1884
            1881-1886           BC013708.1         1867-1872
FEATURES             Location/Qualifiers
     source          1..1886
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..1886
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /note="eukaryotic translation initiation factor 4A2"
                     /db_xref="GeneID:1974"
                     /db_xref="HGNC:HGNC:3284"
                     /db_xref="MIM:601102"
     exon            1..63
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..1258
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /EC_number="3.6.4.13"
                     /note="ATP-dependent RNA helicase eIF4A-2"
                     /codon_start=1
                     /product="eukaryotic initiation factor 4A-II"
                     /protein_id="NP_001958.2"
                     /db_xref="CCDS:CCDS3282.1"
                     /db_xref="GeneID:1974"
                     /db_xref="HGNC:HGNC:3284"
                     /db_xref="MIM:601102"
                     /translation="MSGGSADYNREHGGPEGMDPDGVIESNWNEIVDNFDDMNLKESL
                     LRGIYAYGFEKPSAIQQRAIIPCIKGYDVIAQAQSGTGKTATFAISILQQLEIEFKET
                     QALVLAPTRELAQQIQKVILALGDYMGATCHACIGGTNVRNEMQKLQAEAPHIVVGTP
                     GRVFDMLNRRYLSPKWIKMFVLDEADEMLSRGFKDQIYEIFQKLNTSIQVVLLSATMP
                     TDVLEVTKKFMRDPIRILVKKEELTLEGIKQFYINVEREEWKLDTLCDLYETLTITQA
                     VIFLNTRRKVDWLTEKMHARDFTVSALHGDMDQKERDVIMREFRSGSSRVLITTDLLA
                     RGIDVQQVSLVINYDLPTNRENYIHRIGRGGRFGRKGVAINFVTEEDKRILRDIETFY
                     NTTVEEMPMNVADLI"
     exon            64..109
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            110..242
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            243..382
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            383..551
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            552..661
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            662..805
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            806..943
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1033
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1113
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1886
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1863..1868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /note="hexamer: AATAAA"
     polyA_site      1886
                     /gene="EIF4A2"
                     /gene_synonym="BM-010; DDX2B; eIF-4A-II; EIF4A; eIF4A-II;
                     EIF4F; NEDHSS"
                     /note="major polyA site"
ORIGIN      
        1 cttttcagtc gggcgctgag tggtttttcg gatcatgtct ggtggctccg cggattataa
       61 cagagaacat ggcggcccag agggaatgga ccccgatggt gtcatcgaga gcaactggaa
      121 tgagattgtt gataactttg atgatatgaa tttaaaggag tctctccttc gtggcatcta
      181 tgcttacggt tttgagaagc cttccgctat tcagcagaga gctattattc cctgtattaa
      241 agggtatgat gtgattgctc aagctcagtc aggtactggc aagacagcca catttgctat
      301 ttccatcctg caacagttgg agattgagtt caaggagacc caagcactag tattggcccc
      361 caccagagaa ctggctcaac agatccaaaa ggtaattctg gcacttggag actatatggg
      421 agccacttgt catgcctgca ttggtggaac aaatgttcga aatgaaatgc aaaaactgca
      481 ggctgaagca ccacatattg ttgttggtac acccgggaga gtgtttgata tgttaaacag
      541 aagatacctt tctccaaaat ggatcaaaat gtttgttttg gatgaagcag atgaaatgtt
      601 gagccgtggt tttaaggatc aaatctatga gattttccaa aaactaaaca caagtattca
      661 ggttgtgttg ctttctgcca caatgccaac tgatgtgttg gaagtgacca aaaaattcat
      721 gagagatcca attcgaattc tggtgaaaaa ggaagaattg acccttgaag gaatcaaaca
      781 gttttatatt aatgttgaga gagaggaatg gaagttggat acactttgtg acttgtacga
      841 gacactgacc attacacagg ctgttatttt tctcaatacg aggcgcaagg tggactggct
      901 gactgagaag atgcatgcca gagacttcac agtttctgct ctgcatggtg acatggacca
      961 gaaggagaga gatgttatca tgagggaatt ccggtcaggg tcaagtcgtg ttctgatcac
     1021 tactgacttg ttggctcgcg ggattgatgt gcaacaagtg tctttggtta taaattatga
     1081 tctacctacc aatcgtgaaa actatattca cagaattggc agagggggtc gatttgggag
     1141 gaaaggtgtg gctataaact ttgttactga agaagacaag aggattcttc gtgacattga
     1201 gactttctac aatactacag tggaggagat gcccatgaat gtggctgacc ttatttaatt
     1261 cctgggatga gagttttgga tgcagtgctc gctgttgctg aataggcgat cacaacgtgc
     1321 attgtgcttc tttctttggg aatatttgaa tcttgtctca atgctcataa cggatcagaa
     1381 atacagattt tgatagcaaa gcgacgttag tcgtgagctc ttgtgaggaa agtcattggc
     1441 tttatcctct ttagagttag actgttgggg tgggtataaa agatggggtc tgtaaaatct
     1501 ttctttctta gaaatttatt tcctagttct gtagaaatgg ttgtattaga tgttctctat
     1561 catttaataa tatacttgtg gactaaaaga tataagtgct gtataaaatc agccaattat
     1621 gttaaactag catatctgcc tttattgtgt ttgtcattag cctgagtaga aaggccttta
     1681 aaattttttt agaaagcatt tgaatgcatt ttgtttggta ttgtatttat tcaataaagt
     1741 atttaattag tgctaagtgt gaactggacc ctgttgctaa gccccagcaa gcaatcctag
     1801 gtagggttta atccccagta aaattgccat attgcacatg tcttaatgaa gtttgaatgt
     1861 taaataaatt gtatattcac tttaaa
//
