LOCUS       NM_032380               2993 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens GTP dependent ribosome recycling factor mitochondrial
            2 (GFM2), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_032380
VERSION     NM_032380.5
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 2993)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2993)
  AUTHORS   Kummer,E., Schubert,K.N., Schoenhut,T., Scaiola,A. and Ban,N.
  TITLE     Structural basis of translation termination, rescue, and recycling
            in mammalian mitochondria
  JOURNAL   Mol Cell 81 (12), 2566-2582 (2021)
   PUBMED   33878294
REFERENCE   3  (bases 1 to 2993)
  AUTHORS   Fukumura,S., Ohba,C., Watanabe,T., Minagawa,K., Shimura,M.,
            Murayama,K., Ohtake,A., Saitsu,H., Matsumoto,N. and Tsutsumi,H.
  TITLE     Compound heterozygous GFM2 mutations with Leigh syndrome
            complicated by arthrogryposis multiplex congenita
  JOURNAL   J Hum Genet 60 (9), 509-513 (2015)
   PUBMED   26016410
  REMARK    GeneRIF: GFM2 mutations could be causative of a phenotype of Leigh
            syndrome with arthrogryposis multiplex congenita.
REFERENCE   4  (bases 1 to 2993)
  AUTHORS   Callegari,S., Gregory,P.A., Sykes,M.J., Bellon,J., Andrews,S.,
            McKinnon,R.A. and de Barros Lopes,M.A.
  TITLE     Polymorphisms in the mitochondrial ribosome recycling factor
            EF-G2mt/MEF2 compromise cell respiratory function and increase
            atorvastatin toxicity
  JOURNAL   PLoS Genet 8 (6), e1002755 (2012)
   PUBMED   22719265
  REMARK    GeneRIF: These findings constitute the first reported phenotype
            associated with SNPs in the EF-G2mt gene and implicate the human
            EF-G2mt gene as a pharmacogenetic candidate gene for statin
            toxicity in humans
REFERENCE   5  (bases 1 to 2993)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2993)
  AUTHORS   Tsuboi,M., Morita,H., Nozaki,Y., Akama,K., Ueda,T., Ito,K.,
            Nierhaus,K.H. and Takeuchi,N.
  TITLE     EF-G2mt is an exclusive recycling factor in mammalian mitochondrial
            protein synthesis
  JOURNAL   Mol Cell 35 (4), 502-510 (2009)
   PUBMED   19716793
  REMARK    GeneRIF: EF-G2mt is an exclusive recycling factor in mammalian
            mitochondrial protein synthesis.
REFERENCE   7  (bases 1 to 2993)
  AUTHORS   Sasarman,F., Antonicka,H. and Shoubridge,E.A.
  TITLE     The A3243G tRNALeu(UUR) MELAS mutation causes amino acid
            misincorporation and a combined respiratory chain assembly defect
            partially suppressed by overexpression of EFTu and EFG2
  JOURNAL   Hum Mol Genet 17 (23), 3697-3707 (2008)
   PUBMED   18753147
  REMARK    GeneRIF: Myoblasts isolated from the MELAS patients show A3243G
            mutation in tRNALeu(UUR) produces a severe respiratory chain
            deficiency and this phenotype can be partially suppressed by
            overexpression of EFTu and EFG2.
REFERENCE   8  (bases 1 to 2993)
  AUTHORS   Antonicka,H., Sasarman,F., Kennaway,N.G. and Shoubridge,E.A.
  TITLE     The molecular basis for tissue specificity of the oxidative
            phosphorylation deficiencies in patients with mutations in the
            mitochondrial translation factor EFG1
  JOURNAL   Hum Mol Genet 15 (11), 1835-1846 (2006)
   PUBMED   16632485
REFERENCE   9  (bases 1 to 2993)
  AUTHORS   Hammarsund,M., Wilson,W., Corcoran,M., Merup,M., Einhorn,S.,
            Grander,D. and Sangfelt,O.
  TITLE     Identification and characterization of two novel human
            mitochondrial elongation factor genes, hEFG2 and hEFG1,
            phylogenetically conserved through evolution
  JOURNAL   Hum Genet 109 (5), 542-550 (2001)
   PUBMED   11735030
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF367997.1, AK315705.1,
            AY453587.1 and AF111808.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032380.4.
            
            Summary: Eukaryotes contain two protein translational systems, one
            in the cytoplasm and one in the mitochondria. Mitochondrial
            translation is crucial for maintaining mitochondrial function and
            mutations in this system lead to a breakdown in the respiratory
            chain-oxidative phosphorylation system and to impaired maintenance
            of mitochondrial DNA. This gene encodes one of the mitochondrial
            translation elongation factors, which is a GTPase that plays a role
            at the termination of mitochondrial translation by mediating the
            disassembly of ribosomes from messenger RNA . Its role in the
            regulation of normal mitochondrial function and in disease states
            attributed to mitochondrial dysfunction is not known. Alternative
            splicing results in multiple transcript variants encoding distinct
            isoforms. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) lacks an alternate exon in the
            5' coding region and initiates translation at a downstream start
            codon, compared to variant 4. It encodes isoform 1 which is shorter
            at the N-terminus, compared to isoform 4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC030612.1, AF367997.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000296805.8/
                                                  ENSP00000296805.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                AF367997.1         101-161
            62-62               AK315705.1         95-95
            63-2933             AF367997.1         163-3033
            2934-2989           AY453587.1         2792-2847
            2990-2993           AF111808.1         2851-2854
FEATURES             Location/Qualifiers
     source          1..2993
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     gene            1..2993
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /note="GTP dependent ribosome recycling factor
                     mitochondrial 2"
                     /db_xref="GeneID:84340"
                     /db_xref="HGNC:HGNC:29682"
                     /db_xref="MIM:606544"
     exon            1..180
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            181..267
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..2544
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial ribosome recycling factor 2; mitochondrial
                     elongation factor G2; ribosome-releasing factor 2,
                     mitochondrial; G elongation factor mitochondrial 2;
                     ribosome releasing factor 2; mitochondrial
                     ribosome-releasing factor 2"
                     /codon_start=1
                     /product="ribosome-releasing factor 2, mitochondrial
                     isoform 1"
                     /protein_id="NP_115756.2"
                     /db_xref="CCDS:CCDS4023.1"
                     /db_xref="GeneID:84340"
                     /db_xref="HGNC:HGNC:29682"
                     /db_xref="MIM:606544"
                     /translation="MLTNLRIFAMSHQTIPSVYINNICCYKIRASLKRLKPHVPLGRN
                     CSSLPGLIGNDIKSLHSIINPPIAKIRNIGIMAHIDAGKTTTTERILYYSGYTRSLGD
                     VDDGDTVTDFMAQERERGITIQSAAVTFDWKGYRVNLIDTPGHVDFTLEVERCLRVLD
                     GAVAVFDASAGVEAQTLTVWRQADKHNIPRICFLNKMDKTGASFKYAVESIREKLKAK
                     PLLLQLPIGEAKTFKGVVDVVMKEKLLWNCNSNDGKDFERKPLLEMNDPELLKETTEA
                     RNALIEQVADLDDEFADLVLEEFSENFDLLPAEKLQTAIHRVTLAQTAVPVLCGSALK
                     NKGIQPLLDAVTMYLPSPEERNYEFLQWYKDDLCALAFKVLHDKQRGPLVFMRIYSGT
                     IKPQLAIHNINGNCTERISRLLLPFADQHVEIPSLTAGNIALTVGLKHTATGDTIVSS
                     KSSALAAARRAEREGEKKHRQNNEAERLLLAGVEIPEPVFFCTIEPPSLSKQPDLEHA
                     LKCLQREDPSLKVRLDPDSGQTVLCGMGELHIEIIHDRIKREYGLETYLGPLQVAYRE
                     TILNSVRATDTLDRTLGDKRHLVTVEVEARPIETSSVMPVIEFEYAESINEGLLKVSQ
                     EAIENGIHSACLQGPLLGSPIQDVAITLHSLTIHPGTSTTMISACVSRCVQKALKKAD
                     KQVLEPLMNLEVTVARDYLSPVLADLAQRRGNIQEIQTRQDNKVVIGFVPLAEIMGYS
                     TVLRTLTSGSATFALELSTYQAMNPQDQNTLLNRRSGLT"
     exon            268..352
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            353..410
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            411..508
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            509..634
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            635..723
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            724..812
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            813..873
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1053
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1134
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..1283
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1424
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1524
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1714
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1791
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1792..1930
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..2116
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2232
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            2233..2415
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     exon            2416..2993
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2918..2923
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /note="hexamer: AATAAA"
     polyA_site      2941
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /note="major polyA site"
     regulatory      2973..2978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
                     /note="hexamer: AATAAA"
     polyA_site      2993
                     /gene="GFM2"
                     /gene_synonym="EF-G2mt; EFG2; hEFG2; mEF-G 2; MRRF2;
                     MST027; MSTP027; RRF; RRF2; RRF2mt"
ORIGIN      
        1 ggtgtggctg cccgaggcgg tagagcggag aaagcctatt ttcttttcgt ttagatacat
       61 tgccttttgc ctaggctggc gtcgagactt gaggccgttg cagactttgg cgcggctcgc
      121 gcctcctgct tcaagagccc agcggtgaga gctggcctgc ggcacgcggc ctaatgccag
      181 acagtaacag tttggaggat caagatgttg accaacttga ggatatttgc aatgagtcat
      241 cagacaatac ccagtgtgta tattaataat atatgctgct ataaaataag agcaagttta
      301 aaaagattaa agccacatgt gccgcttgga agaaattgca gttctctacc aggcttaata
      361 ggaaatgata tcaaatccct tcattccatc atcaatcctc ccatagctaa aatccgtaat
      421 attggaatta tggctcatat tgatgcaggc aaaactacca ccacagaaag aatattgtac
      481 tattccggat atacaagatc actgggagat gttgatgatg gagacacagt gacagatttc
      541 atggcccaag agcgagaaag aggcattact attcaatcag ctgctgttac atttgattgg
      601 aaaggttata gagtcaatct aattgataca ccaggtcatg tggactttac cttggaggtt
      661 gagcggtgcc taagagtgtt ggatggtgca gtggctgtat ttgatgcctc tgctggtgta
      721 gaggcccaga ctctcacagt atggaggcaa gctgataaac acaatatacc tcgaatctgt
      781 tttttaaaca agatggacaa aactggagca agctttaagt atgcagttga aagcatcaga
      841 gagaagttaa aggcaaagcc tttgctttta cagttaccaa ttggtgaagc caaaactttc
      901 aaaggagtgg tggatgtagt aatgaaagaa aaacttcttt ggaattgcaa ttcaaatgat
      961 ggaaaagact ttgagagaaa gcccctcttg gaaatgaatg atcctgaatt gctgaaggaa
     1021 acaactgaag caaggaatgc cttaattgaa caagttgcag atttggatga tgaatttgct
     1081 gacttggttt tagaagaatt tagtgagaat tttgatttgt taccagctga aaagctacag
     1141 actgcaatac atagagtgac actagctcag acagcagtgc ctgtgctttg tggaagtgcc
     1201 ctgaaaaaca aagggataca gcccttgtta gatgctgtta ctatgtactt accttcacct
     1261 gaagagcgta actatgaatt tctgcagtgg tataaggatg acttatgtgc attggcattt
     1321 aaagttctcc atgacaagca gcgaggacca ctggttttta tgcgcattta ctcaggcact
     1381 ataaaacccc agttggccat tcataatatt aatggaaact gcacggagag aataagtcgt
     1441 ctgcttttgc cgtttgctga ccaacatgta gaaatccctt cattgactgc tggtaacatt
     1501 gctttgactg ttgggcttaa acatactgcc actggagaca ccattgtctc atccaagtcc
     1561 agtgcattag ctgcagctcg tagagccgaa cgggagggag aaaagaagca cagacaaaac
     1621 aatgaagcag agagactttt attggctgga gtggagattc cagaacctgt tttcttctgt
     1681 accatagaac ccccatcact gtctaagcag ccagatttgg aacatgcgtt gaaatgtctt
     1741 cagcgtgaag atcccagttt gaaagtgagg ctagatcctg actctggaca aactgttctg
     1801 tgtggtatgg gggagttaca tatagagatt attcatgatc gaatcaagag ggaatatgga
     1861 ctggagacct atctcgggcc tctccaggtg gcatatcgag agaccatcct aaactcagtt
     1921 cgtgccacag ataccttaga tagaacttta ggagacaaaa ggcatcttgt gactgtagaa
     1981 gtggaagcaa ggccaattga aacatcatct gttatgcctg tgattgagtt tgagtatgct
     2041 gaaagtatca atgaaggcct tttgaaggtc tcccaagagg ccattgaaaa tggaattcac
     2101 agcgcatgtc tccaaggacc attgcttgga tccccaattc aggatgtagc aattacttta
     2161 cattccctga caattcatcc tggcacctcc acaactatga tttctgcctg tgtctcaaga
     2221 tgcgtgcaaa aggctctgaa gaaagctgat aagcaagttt tggagcctct gatgaatctt
     2281 gaggttacag tagctagaga ttatctcagc cctgtcctgg cagatctggc acaaagaaga
     2341 ggaaacattc aggaaattca gactcgccag gacaacaaag ttgttattgg atttgttccc
     2401 ttagcagaaa ttatgggtta ttcaactgtg cttcgaacgc taacatcagg ctcagctact
     2461 tttgccttag aactatctac ttatcaagcc atgaatcctc aagatcaaaa tacactgctc
     2521 aaccggagaa gtggtttgac ctaaatgttt tagtttttgg agagaaattc aggagcacct
     2581 agctacttca ttttcagtaa gaacaatttt tattgcttta tttattggac gaataaagta
     2641 ctgtttcagt acattcagag aactagataa aagatataac ttaagctttg atagtggcac
     2701 tggagccacc cgttttaatt tatataatga gaaatgtgct ttgatgttta aagccactgt
     2761 acctgaatca tgctgttcat ctatgaagtt attactataa gtagccttca gaagagtggt
     2821 atcacaaagt tgtgtttctt ttgtgtcctt aagcttgtct cacaagaaag atgccaggcc
     2881 tctaaatgta ataagataga gggtcaaagg ttcaatcaat aaaaatattt tattcaaaaa
     2941 acagtctaat atcttatttt acatgatttc aaaataaagt tgattgtagt aca
//
