LOCUS       NM_001286216            2806 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens GTP binding protein 2 (GTPBP2), transcript variant 2,
            mRNA.
ACCESSION   NM_001286216 XM_005249197
VERSION     NM_001286216.2
KEYWORDS    RefSeq.
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 2806)
  AUTHORS   Salpietro,V., Maroofian,R., Zaki,M.S., Wangen,J., Ciolfi,A.,
            Barresi,S., Efthymiou,S., Lamaze,A., Aughey,G.N., Al Mutairi,F.,
            Rad,A., Rocca,C., Cali,E., Accogli,A., Zara,F., Striano,P.,
            Mojarrad,M., Tariq,H., Giacopuzzi,E., Taylor,J.C., Oprea,G.,
            Skrahina,V., Rehman,K.U., Abd Elmaksoud,M., Bassiony,M., El
            Said,H.G., Abdel-Hamid,M.S., Al Shalan,M., Seo,G., Kim,S., Lee,H.,
            Khang,R., Issa,M.Y., Elbendary,H.M., Rafat,K., Marinakis,N.M.,
            Traeger-Synodinos,J., Ververi,A., Sourmpi,M., Eslahi,A., Khadivi
            Zand,F., Beiraghi Toosi,M., Babaei,M., Jackson,A.,
            Bertoli-Avella,A., Pagnamenta,A.T., Niceta,M., Battini,R.,
            Corsello,A., Leoni,C., Chiarelli,F., Dallapiccola,B., Faqeih,E.A.,
            Tallur,K.K., Alfadhel,M., Alobeid,E., Maddirevula,S., Mankad,K.,
            Banka,S., Ghayoor-Karimiani,E., Tartaglia,M., Chung,W.K., Green,R.,
            Alkuraya,F.S., Jepson,J.E.C. and Houlden,H.
  CONSRTM   SYNAPS Study Group
  TITLE     Bi-allelic genetic variants in the translational GTPases GTPBP1 and
            GTPBP2 cause a distinct identical neurodevelopmental syndrome
  JOURNAL   Am J Hum Genet 111 (1), 200-210 (2024)
   PUBMED   38118446
  REMARK    GeneRIF: Bi-allelic genetic variants in the translational GTPases
            GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental
            syndrome.
REFERENCE   2  (bases 1 to 2806)
  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   3  (bases 1 to 2806)
  AUTHORS   Carter,M.T., Venkateswaran,S., Shapira-Zaltsberg,G., Davila,J.,
            Humphreys,P., Kernohan,K.D. and Boycott,K.M.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     Clinical delineation of GTPBP2-associated neuro-ectodermal
            syndrome: Report of two new families and review of the literature
  JOURNAL   Clin Genet 95 (5), 601-606 (2019)
   PUBMED   30790272
  REMARK    GeneRIF: prenatal and neonatal findings as well as the first
            Caucasian and black African families with GTPBP2 biallelic
            variants, are reported.
            Review article
REFERENCE   4  (bases 1 to 2806)
  AUTHORS   Zinoviev,A., Goyal,A., Jindal,S., LaCava,J., Komar,A.A.,
            Rodnina,M.V., Hellen,C.U.T. and Pestova,T.V.
  TITLE     Functions of unconventional mammalian translational GTPases GTPBP1
            and GTPBP2
  JOURNAL   Genes Dev 32 (17-18), 1226-1241 (2018)
   PUBMED   30108131
  REMARK    GeneRIF: GTPBP2 lacked elongation activity and did not stimulate
            exosomal degradation, indicating that GTPBP1 and GTPBP2 have
            different functions.
REFERENCE   5  (bases 1 to 2806)
  AUTHORS   Bertoli-Avella,A.M., Garcia-Aznar,J.M., Brandau,O., Al-Hakami,F.,
            Yuksel,Z., Marais,A., Gruning,N.M., Abbasi Moheb,L., Paknia,O.,
            Alshaikh,N., Alameer,S., Marafi,M.J., Al-Mulla,F., Al-Sannaa,N.,
            Rolfs,A. and Bauer,P.
  TITLE     Biallelic inactivating variants in the GTPBP2 gene cause a
            neurodevelopmental disorder with severe intellectual disability
  JOURNAL   Eur J Hum Genet 26 (4), 592-598 (2018)
   PUBMED   29449720
  REMARK    GeneRIF: Biallelic inactivating variants in the GTPBP2 were
            identified in two patients with severe intellectual disability and
            structural brain abnormalities.
REFERENCE   6  (bases 1 to 2806)
  AUTHORS   Jaberi,E., Rohani,M., Shahidi,G.A., Nafissi,S., Arefian,E.,
            Soleimani,M., Rasooli,P., Ahmadieh,H., Daftarian,N., Carrami,E.M.,
            Klotzle,B., Fan,J.B., Turk,C., Steemers,F. and Elahi,E.
  TITLE     Identification of mutation in GTPBP2 in patients of a family with
            neurodegeneration accompanied by iron deposition in the brain
  JOURNAL   Neurobiol Aging 38, 216 (2016)
   PUBMED   26675814
  REMARK    GeneRIF: It may be a novel neurodegeneration with brain iron
            accumulation gene.
REFERENCE   7  (bases 1 to 2806)
  AUTHORS   Weimann,M., Grossmann,A., Woodsmith,J., Ozkan,Z., Birth,P.,
            Meierhofer,D., Benlasfer,N., Valovka,T., Timmermann,B.,
            Wanker,E.E., Sauer,S. and Stelzl,U.
  TITLE     A Y2H-seq approach defines the human protein methyltransferase
            interactome
  JOURNAL   Nat Methods 10 (4), 339-342 (2013)
   PUBMED   23455924
REFERENCE   8  (bases 1 to 2806)
  AUTHORS   Watanabe,M., Yoshida,K., Hida,M., Kato,H., Uchida,K., Yamaguchi,R.,
            Tateyama,S. and Sugano,S.
  TITLE     Cloning, expression analysis, and chromosomal mapping of GTPBP2, a
            novel member of the G protein family
  JOURNAL   Gene 256 (1-2), 51-58 (2000)
   PUBMED   11054535
REFERENCE   9  (bases 1 to 2806)
  AUTHORS   Kudo,H., Senju,S., Mitsuya,H. and Nishimura,Y.
  TITLE     Mouse and human GTPBP2, newly identified members of the GP-1 family
            of GTPase
  JOURNAL   Biochem Biophys Res Commun 272 (2), 456-465 (2000)
   PUBMED   10833435
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK290267.1 and BC020980.2.
            
            On Aug 13, 2020 this sequence version replaced NM_001286216.1.
            
            Summary: GTP-binding proteins, or G proteins, constitute a
            superfamily capable of binding GTP or GDP. G proteins are activated
            by binding GTP and are inactivated by hydrolyzing GTP to GDP. This
            general mechanism enables G proteins to perform a wide range of
            biologic activities.[supplied by OMIM, Jan 2003].
            
            Transcript Variant: This variant (2) contains an alternate 5' exon
            and it thus differs in the 5' UTR and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (b) is shorter at the N-terminus, compared to isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290267.1, SRR11853562.27356.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-483               AK290267.1         13-495
            484-2806            BC020980.2         107-2429
FEATURES             Location/Qualifiers
     source          1..2806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..2806
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="GTP binding protein 2"
                     /db_xref="GeneID:54676"
                     /db_xref="HGNC:HGNC:4670"
                     /db_xref="MIM:607434"
     exon            1..63
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            64..90
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            91..275
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1686
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="GTP-binding protein 2 isoform b"
                     /protein_id="NP_001273145.1"
                     /db_xref="CCDS:CCDS69124.1"
                     /db_xref="GeneID:54676"
                     /db_xref="HGNC:HGNC:4670"
                     /db_xref="MIM:607434"
                     /translation="MKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEMRASLKTLHRMAE
                     KVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVAVLGNVDSGKSTLLG
                     VLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYSDSRTAEEI
                     CESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREHLGLALA
                     LKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQQFAQ
                     SPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVPEV
                     GTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALG
                     DFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVV
                     EKIHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEA
                     QANMGF"
     exon            276..384
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            385..582
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            583..757
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            758..977
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1113
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1172
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1344
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1509
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..2806
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2787..2792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="hexamer: AATAAA"
     polyA_site      2806
                     /gene="GTPBP2"
                     /gene_synonym="JABELS"
                     /note="major polyA site"
ORIGIN      
        1 agtgacaaag aaaggtttta acagcctggg cacagaggag acatagactt ctgggaaaag
       61 caggctgaag atggaaacat tgaatataaa ttgaagctgg tgaatccatc ccagtaccgc
      121 tttgagcacc tggtgacaca aatgaagtgg cggctccagg agggacgtgg tgaggccgtc
      181 taccagattg gggtagagga caatgggctg ctggtggggc tggctgagga ggaaatgcga
      241 gcttcgctca agaccctgca ccggatggca gagaaggttg gggcagacat aaccgttctt
      301 cgagagcgag aagtggatta tgatagcgac atgccccgga agatcaccga ggtgctagta
      361 cgaaaggtcc ctgacaacca acagttccta gacctccgtg tggccgtcct ggggaatgtg
      421 gactctggga agtcaactct gcttggagtc ctgacccagg gagagctgga caatgggcgg
      481 ggccgggctc ggctcaacct tttccgccac ctgcatgaga ttcagtctgg ccgaacctcc
      541 agcatcagct tcgagatcct gggctttaac agcaagggag aggtggtgaa ttacagcgac
      601 tcacggacag cagaagagat ctgtgagagc agctccaaga tgatcacctt catcgacctg
      661 gcaggccacc ataagtacct acacaccacc atctttggcc tcacatcata ctgccccgac
      721 tgcgccctgc tcctcgtcag tgccaacact gggattgctg gcaccacaag ggaacatctg
      781 gggctggccc tggccctgaa agtgcccttc ttcatcgtgg tcagcaagat cgacctatgt
      841 gccaagacca cagtggagag gacagtacgc cagctggagc gggtcctcaa gcagcctggc
      901 tgccacaagg tccccatgct ggtcacctct gaggatgatg ccgtcactgc tgcccagcag
      961 tttgctcagt cacccaatgt cacccccatc ttcacattgt ccagtgtgtc tggagagagt
     1021 ctggacctcc tcaaagtctt tctgaatatt ctgccgccac tcaccaacag caaagagcag
     1081 gaggaactca tgcagcagct gacggagttc caggtggatg aaatctacac agtaccagag
     1141 gtggggactg ttgttggagg aacactttcc agtgggattt gccgtgaggg ggaccagctg
     1201 gtggtgggcc ccacggatga tggctgcttc ctggagctga gagtatgcag catccagcgc
     1261 aaccgctctg cctgtcgtgt gctgcgagct ggtcaggctg ctacactggc gcttggggac
     1321 tttgaccgtg cactgcttcg caagggcatg gtgatggtga gcccggagat gaatcctacc
     1381 atctgctcgg tgtttgaggc agagatagtc ttactgttcc atgccaccac cttccgacga
     1441 ggattccagg tgacagtaca cgtgggcaac gtacgtcaga cggcagtggt ggaaaagatc
     1501 catgccaagg acaaactgcg gacaggcgag aaggcagtgg tacgtttccg cttcctgaaa
     1561 cacccagagt acctgaaggt gggcgccaaa ctgctgttcc gggagggtgt caccaagggc
     1621 atcggccatg tcactgatgt acaagccatt acagcaggag aagcccaggc caacatgggc
     1681 ttctgaaccc ttcaggcagg gacagttcta ttgctgtccc tacaatatat aaggtgactt
     1741 ctggccatgc tgccctgcca ttggcggctc tgtgtgttaa taggctaggg agagaggggt
     1801 gctgtctgcc acttgctccc tgccaacttt ctggagaggt gccaaacttg gtgtggccag
     1861 gaaagggcag tcctgaggga gaagacagga ttcagggcag tgctccgaag ctgtgtgctc
     1921 acctggttgg ctcatcaaac ctggcaaccc tgtggcctgt ctgccggagc tgactggatc
     1981 cactcatcaa ttcttcgtcc ccactactaa gactgggcat gttttgctgg tgtggtctct
     2041 gcacttcagg aatggtcaca acagggggta gccctcaaaa gcactccttt ttctatacct
     2101 cttctcaagg ccatgtaagt tgcccatctc tacctggctg tggacaaaag gttatctgct
     2161 cttggccatc tggtggtggt ggcggcccag agtctgaaga aatggcacag ggacagtgaa
     2221 tggtagtgtt gccaccctgt gctgaggcct gaggcctctt cctcagcttt atctcccttt
     2281 ccttcactca agggccattt ccccagtccc tatctccccc atcccctccc ggcttatagg
     2341 ccccacaggt gctatttgtt gtgctggccc aggcgtgggg ctaccaagca aaggcttggc
     2401 atataccaaa ggccagctgc atgcccatca gtctggtctt tttcctctgc ggtcatgttg
     2461 gctttcatgc tggatcaaat gttttacttt cccagactgg tggcatctga gttccccatc
     2521 ctaccactct caccccactt tcctgcccca cctaaaccct cgttttagta atttgtagtg
     2581 actgttccct tccctctgtt gcagggaacc aggaggaaag ggaaagatgt tgccatattt
     2641 cctactcttt aggcatggac tctcctttcc ctttgttagt gtcctgggtt cccatggact
     2701 cagggatttg ttggctaagg tttctctgtg catatatata tatatacata tgtatatata
     2761 tttaaataca catatatatt gtacagaata aaaatgtttt attgaa
//
