LOCUS       NM_020320               2242 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_020320
VERSION     NM_020320.5
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 2242)
  AUTHORS   Zhao,S., Lian,R., Jin,L., Li,M., Jia,T., Xu,F., Du,K., Wang,L.,
            Guo,Q. and Dong,Y.
  TITLE     Clinical and genetic analysis of infants with pontocerebellar
            hypoplasia type 6 caused by RARS2 variations
  JOURNAL   Epilepsia Open 9 (1), 250-257 (2024)
   PUBMED   38009286
  REMARK    GeneRIF: Clinical and genetic analysis of infants with
            pontocerebellar hypoplasia type 6 caused by RARS2 variations.
REFERENCE   2  (bases 1 to 2242)
  AUTHORS   Zhang,Y., Yu,Y., Zhao,X., Xu,Y., Chen,L., Li,N., Yao,R., Wang,J.
            and Yu,T.
  TITLE     Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of
            Pontocerebellar Hypoplasia Type 6
  JOURNAL   Pediatr Neurol 131, 30-41 (2022)
   PUBMED   35468344
  REMARK    GeneRIF: Novel RARS2 Variants: Updating the Diagnosis and
            Pathogenesis of Pontocerebellar Hypoplasia Type 6.
REFERENCE   3  (bases 1 to 2242)
  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   4  (bases 1 to 2242)
  AUTHORS   Minardi,R., Licchetta,L., Baroni,M.C., Pippucci,T., Stipa,C.,
            Mostacci,B., Severi,G., Toni,F., Bergonzini,L., Carelli,V.,
            Seri,M., Tinuper,P. and Bisulli,F.
  TITLE     Whole-exome sequencing in adult patients with developmental and
            epileptic encephalopathy: It is never too late
  JOURNAL   Clin Genet 98 (5), 477-485 (2020)
   PUBMED   32725632
  REMARK    GeneRIF: Whole-exome sequencing in adult patients with
            developmental and epileptic encephalopathy: It is never too late.
REFERENCE   5  (bases 1 to 2242)
  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   6  (bases 1 to 2242)
  AUTHORS   Cassandrini,D., Cilio,M.R., Bianchi,M., Doimo,M., Balestri,M.,
            Tessa,A., Rizza,T., Sartori,G., Meschini,M.C., Nesti,C., Tozzi,G.,
            Petruzzella,V., Piemonte,F., Bisceglia,L., Bruno,C.,
            Dionisi-Vici,C., D'Amico,A., Fattori,F., Carrozzo,R., Salviati,L.,
            Santorelli,F.M. and Bertini,E.
  TITLE     Pontocerebellar hypoplasia type 6 caused by mutations in RARS2:
            definition of the clinical spectrum and molecular findings in five
            patients
  JOURNAL   J Inherit Metab Dis 36 (1), 43-53 (2013)
   PUBMED   22569581
  REMARK    GeneRIF: Molecular investigations of RARS2 disclosed the
            c.25A>G/p.I9V and the c.1586+3A>T in family A.
REFERENCE   7  (bases 1 to 2242)
  AUTHORS   Glamuzina,E., Brown,R., Hogarth,K., Saunders,D., Russell-Eggitt,I.,
            Pitt,M., de Sousa,C., Rahman,S., Brown,G. and Grunewald,S.
  TITLE     Further delineation of pontocerebellar hypoplasia type 6 due to
            mutations in the gene encoding mitochondrial arginyl-tRNA
            synthetase, RARS2
  JOURNAL   J Inherit Metab Dis 35 (3), 459-467 (2012)
   PUBMED   22086604
  REMARK    GeneRIF: mutations in the gene encoding mitochondrial arginyl-tRNA
            synthetase, RARS2, may have a role in pontocerebellar hypoplasia
            type 6 [case report]
REFERENCE   8  (bases 1 to 2242)
  AUTHORS   Rankin,J., Brown,R., Dobyns,W.B., Harington,J., Patel,J., Quinn,M.
            and Brown,G.
  TITLE     Pontocerebellar hypoplasia type 6: A British case with PEHO-like
            features
  JOURNAL   Am J Med Genet A 152A (8), 2079-2084 (2010)
   PUBMED   20635367
REFERENCE   9  (bases 1 to 2242)
  AUTHORS   Edvardson,S., Shaag,A., Kolesnikova,O., Gomori,J.M., Tarassov,I.,
            Einbinder,T., Saada,A. and Elpeleg,O.
  TITLE     Deleterious mutation in the mitochondrial arginyl-transfer RNA
            synthetase gene is associated with pontocerebellar hypoplasia
  JOURNAL   Am J Hum Genet 81 (4), 857-862 (2007)
   PUBMED   17847012
REFERENCE   10 (bases 1 to 2242)
  AUTHORS   Bonnefond,L., Fender,A., Rudinger-Thirion,J., Giege,R., Florentz,C.
            and Sissler,M.
  TITLE     Toward the full set of human mitochondrial aminoacyl-tRNA
            synthetases: characterization of AspRS and TyrRS
  JOURNAL   Biochemistry 44 (12), 4805-4816 (2005)
   PUBMED   15779907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB455377.1, AK315669.1,
            CB177631.1 and CA314872.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020320.4.
            
            Summary: This nuclear gene encodes a protein that localizes to the
            mitochondria, where it catalyzes the transfer of L-arginine to its
            cognate tRNA, an important step in translation of
            mitochondrially-encoded proteins. Defects in this gene are a cause
            of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            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 :: SRR1803614.180283.1,
                                           SRR1660805.153316.1 [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                 :: ENST00000369536.10/
                                                  ENSP00000358549.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DB455377.1         48-65
            19-1767             AK315669.1         1-1749
            1768-1969           CB177631.1         86-287
            1970-2242           CA314872.1         17-289              c
FEATURES             Location/Qualifiers
     source          1..2242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..2242
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /note="arginyl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:57038"
                     /db_xref="HGNC:HGNC:21406"
                     /db_xref="MIM:611524"
     exon            1..66
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1767
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /EC_number="6.1.1.19"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; probable arginyl-tRNA synthetase,
                     mitochondrial; probable arginine--tRNA ligase,
                     mitochondrial"
                     /codon_start=1
                     /product="probable arginine--tRNA ligase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_064716.2"
                     /db_xref="CCDS:CCDS5011.1"
                     /db_xref="GeneID:57038"
                     /db_xref="HGNC:HGNC:21406"
                     /db_xref="MIM:611524"
                     /translation="MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQL
                     SVDSLLEKDNDHSRPDIQVQAKRLAEKLRCDTVVSEISTGQRTVNFKINRELLTKTVL
                     QQVIEDGSKYGLKSELFSGLPQKKIVVEFSSPNVAKKFHVGHLRSTIIGNFIANLKEA
                     LGHQVIRINYLGDWGMQFGLLGTGFQLFGYEEKLQSNPLQHLFEVYVQVNKEAADDKS
                     VAKAAQEFFQRLELGDVQALSLWQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKS
                     QEVLKLLESKGLLLKTIKGTAVVDLSGNGDPSSICTVMRSDGTSLYATRDLAAAIDRM
                     DKYNFDTMIYVTDKGQKKHFQQVFQMLKIMGYDWAERCQHVPFGVVQGMKTRRGDVTF
                     LEDVLNEIQLRMLQNMASIKTTKELKNPQETAERVGLAALIIQDFKGLLLSDYKFSWD
                     RVFQSRGDTGVFLQYTHARLHSLEETFGCGYLNDFNTACLQEPQSVSILQHLLRFDEV
                     LYKSSQDFQPRHIVSYLLTLSHLAAVAHKTLQIKDSPPEVAGARLHLFKAVRSVLANG
                     MKLLGITPVCRM"
     exon            67..140
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            141..243
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            244..327
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            328..425
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            426..481
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            482..565
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            566..642
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            643..801
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            802..908
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1004
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1065
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1142
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1267
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1335
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1445
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..1541
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1542..1616
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1617..1680
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1681..2242
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1773..1778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /note="hexamer: ATTAAA"
     polyA_site      1797
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /note="major polyA site"
     regulatory      2224..2229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
                     /note="hexamer: AATAAA"
     polyA_site      2242
                     /gene="RARS2"
                     /gene_synonym="ArgRS; DALRD2; PCH6; PRO1992; RARSL"
ORIGIN      
        1 ggactgcggc gcacttccgt agaggtggac atggcgtgcg gctttcgccg cgctattgct
       61 tgccagcttt ccagagtgtt gaatcttcca ccagaaaact tgatcacatc aatatctgca
      121 gttccaattt cccaaaaaga agaagtagct gattttcagc tttctgtgga ttctttattg
      181 gaaaaagaca atgaccattc aagaccagat attcaagttc aagccaagag actagcagag
      241 aagctaagat gtgatacagt ggtgagtgaa atcagtactg gtcaaaggac tgtaaatttc
      301 aaaataaaca gagagctctt aacaaagaca gtgctacaac aagtaattga agatggctca
      361 aaatatggat taaaaagtga acttttctct ggacttcccc agaagaagat tgtggttgaa
      421 ttcagttcac ctaatgttgc caaaaaattt catgttggac atttgcgttc taccatcata
      481 ggaaatttta tagcaaatct caaagaagct ttaggacatc aagtaataag aataaattac
      541 cttggcgatt ggggcatgca gtttggtctt ctgggaactg gcttccagct gtttggctat
      601 gaggaaaaac tgcagtccaa tcctctacag catctctttg aagtttatgt acaagttaat
      661 aaagaagcag cagatgataa aagtgtagca aaagcagcac aggagttctt ccaacgattg
      721 gaactgggcg atgtgcaagc actttcactg tggcaaaaat ttcgggactt gagcattgaa
      781 gagtacattc gggtttacaa gcgtctggga gtatattttg atgaatattc aggagaatca
      841 ttttatcgtg aaaaatctca agaggtctta aagttgctgg agagtaaagg actcctactg
      901 aaaacaataa aaggaacggc tgtagtagat ctctctggga atggcgaccc ctcctcaatt
      961 tgtactgtaa tgcgaagtga tgggacttct ctctatgcaa ccagagatct tgcagctgct
     1021 atagatcgaa tggacaagta taattttgat acaatgatat atgtgacaga taaaggacaa
     1081 aaaaagcatt ttcagcaagt attccaaatg ctgaagatca tgggatatga ctgggcagaa
     1141 aggtgccagc acgtgccctt tggagtagta cagggaatga agactcgaag aggagatgtc
     1201 actttcctgg aagatgtttt aaatgagatt caattaagga tgctacagaa catggcttca
     1261 attaagacaa ctaaagaact caagaaccca caagagactg cagagagggt cgggctcgca
     1321 gcactcatta ttcaggactt caaaggttta ctcttatctg actacaagtt cagctgggat
     1381 cgtgttttcc agagtcgcgg ggacacagga gtcttcctac agtacacaca cgcccgcctc
     1441 cacagtttgg aagagacttt tggatgtggg tacctgaatg acttcaacac tgcttgttta
     1501 caagagccac agtctgtttc aattcttcag catcttctca ggttcgacga ggtgctttat
     1561 aaatcatctc aggactttca acccaggcat atcgtcagtt accttctaac tttaagtcat
     1621 cttgcagctg tggcacacaa aacactacaa ataaaagata gtcctcctga agtggctggg
     1681 gccagacttc atcttttcaa agctgtccgt tctgtcctag ccaatggaat gaaacttctt
     1741 ggaataacac ctgtatgtag gatgtaattt ccattaaaat ggcttttaaa atgtcaagtg
     1801 aattctagtt atctattctg agatgccttg ctgttcagaa taaatttaaa tttttttttt
     1861 ttttttttga gatggagttt cgctcttgtt gcccaggctg gagtgcaatg gtgtgatgtt
     1921 ggctcactgc aacctccacc tcccaggttc aagcaattct cctgcctcag cctcctgagt
     1981 agctgggatt acaggcacgt gccatcacgc caggctaatt ttgtattttt agtagagaca
     2041 gggtttctct atgttggtca ggctggtctt gcactcccga cctcaggtta tctgtctgcc
     2101 ttggcctccc aaagtgttgg gattagaggc atgaaccacc acgcccagcc aaagttaaac
     2161 tattattctg tgtcagaatc tgtattaaat gtgacttgtc aagttattca gtctttatcc
     2221 ttaaataaat gagttatctg aa
//
