LOCUS       NM_024678               2512 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (NARS2),
            transcript variant 1, mRNA.
ACCESSION   NM_024678
VERSION     NM_024678.6
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 2512)
  AUTHORS   Yang,N., Chen,L., Zhang,Y., Wu,X., Hao,Y., Yang,F., Yang,Z. and
            Liang,J.
  TITLE     Novel NARS2 variants in a patient with early-onset status
            epilepticus: case study and literature review
  JOURNAL   BMC Pediatr 24 (1), 96 (2024)
   PUBMED   38310242
  REMARK    GeneRIF: Novel NARS2 variants in a patient with early-onset status
            epilepticus: case study and literature review.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2512)
  AUTHORS   Ait-El-Mkadem Saadi,S., Kaphan,E., Morales Jaurrieta,A.,
            Fragaki,K., Chaussenot,A., Bannwarth,S., Maues De Paula,A.,
            Paquis-Flucklinger,V. and Rouzier,C.
  TITLE     Splicing variants in NARS2 are associated with milder phenotypes
            and intra-familial variability
  JOURNAL   Eur J Med Genet 65 (12), 104643 (2022)
   PUBMED   36252909
  REMARK    GeneRIF: Splicing variants in NARS2 are associated with milder
            phenotypes and intra-familial variability.
REFERENCE   3  (bases 1 to 2512)
  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 2512)
  AUTHORS   Sofou,K., Kollberg,G., Hedberg-Oldfors,C. and Oldfors,A.
  TITLE     The phenotypic variability and natural history of NARS2 associated
            disease
  JOURNAL   Eur J Paediatr Neurol 31, 31-37 (2021)
   PUBMED   33596490
  REMARK    GeneRIF: The phenotypic variability and natural history of NARS2
            associated disease.
REFERENCE   5  (bases 1 to 2512)
  AUTHORS   Liu,G., Wang,T., Tian,R., Hu,Y., Han,Z., Wang,P., Zhou,W., Ren,P.,
            Zong,J., Jin,S. and Jiang,Q.
  TITLE     Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2
            Expression in Human Brain Tissues
  JOURNAL   J Mol Neurosci 66 (1), 37-43 (2018)
   PUBMED   30088171
  REMARK    GeneRIF: NARS2 expression is reduced in AD brain tissue compared
            with controls. NARS2 expression in brain is associated with GAB2 AD
            risk variant rs2373115.
REFERENCE   6  (bases 1 to 2512)
  AUTHORS   Simon,M., Richard,E.M., Wang,X., Shahzad,M., Huang,V.H.,
            Qaiser,T.A., Potluri,P., Mahl,S.E., Davila,A., Nazli,S.,
            Hancock,S., Yu,M., Gargus,J., Chang,R., Al-Sheqaih,N., Newman,W.G.,
            Abdenur,J., Starr,A., Hegde,R., Dorn,T., Busch,A., Park,E., Wu,J.,
            Schwenzer,H., Flierl,A., Florentz,C., Sissler,M., Khan,S.N., Li,R.,
            Guan,M.X., Friedman,T.B., Wu,D.K., Procaccio,V., Riazuddin,S.,
            Wallace,D.C., Ahmed,Z.M., Huang,T. and Riazuddin,S.
  TITLE     Mutations of human NARS2, encoding the mitochondrial
            asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh
            syndrome
  JOURNAL   PLoS Genet 11 (3), e1005097 (2015)
   PUBMED   25807530
  REMARK    GeneRIF: In these cells we show that a decrease in oxygen
            consumption rates (OCR) and electron transport chain (ETC) activity
            can be rescued by overexpression of wild type NARS2
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2512)
  AUTHORS   Vanlander,A.V., Menten,B., Smet,J., De Meirleir,L., Sante,T., De
            Paepe,B., Seneca,S., Pearce,S.F., Powell,C.A., Vergult,S.,
            Michotte,A., De Latter,E., Vantomme,L., Minczuk,M. and Van
            Coster,R.
  TITLE     Two siblings with homozygous pathogenic splice-site variant in
            mitochondrial asparaginyl-tRNA synthetase (NARS2)
  JOURNAL   Hum Mutat 36 (2), 222-231 (2015)
   PUBMED   25385316
  REMARK    GeneRIF: A variant in NARS2 results in a combined OXPHOS complex
            deficiency involving complex I and IV, making NARS2 a new member of
            disease-associated aminoacyl-tRNA synthetases.
REFERENCE   8  (bases 1 to 2512)
  AUTHORS   Sofou,K., Kollberg,G., Holmstrom,M., Davila,M., Darin,N.,
            Gustafsson,C.M., Holme,E., Oldfors,A., Tulinius,M. and
            Asin-Cayuela,J.
  TITLE     Whole exome sequencing reveals mutations in NARS2 and PARS2,
            encoding the mitochondrial asparaginyl-tRNA synthetase and
            prolyl-tRNA synthetase, in patients with Alpers syndrome
  JOURNAL   Mol Genet Genomic Med 3 (1), 59-68 (2015)
   PUBMED   25629079
REFERENCE   9  (bases 1 to 2512)
  AUTHORS   Wang,X., Lopez,O., Sweet,R.A., Becker,J.T., DeKosky,S.T.,
            Barmada,M.M., Feingold,E., Demirci,F.Y. and Kamboh,M.I.
  TITLE     Genetic Determinants of Survival in Patientswith Alzheimer's
            Disease
  JOURNAL   J Alzheimers Dis 45 (2), 651-658 (2015)
   PUBMED   25649651
  REMARK    GeneRIF: Genome-wide SNP analysis identified multiple suggestive
            novel loci and two of them were also significant in gene-based
            analysis (CCDC85C and NARS2) that survived after controlling for
            false-discovery rate at 0.05.
REFERENCE   10 (bases 1 to 2512)
  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 BP199309.1, AW968557.1,
            BC007800.2 and DB565980.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024678.5.
            
            Summary: This gene encodes a putative member of the class II family
            of aminoacyl-tRNA synthetases. These enzymes play a critical role
            in protein biosynthesis by charging tRNAs with their cognate amino
            acids. This protein is encoded by the nuclear genome but is likely
            to be imported to the mitochondrion where it is thought to catalyze
            the ligation of asparagine to tRNA molecules. Mutations in this
            gene have been associated with combined oxidative phosphorylation
            deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR1660809.98083.1,
                                           SRR1660809.173665.1 [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                 :: ENST00000281038.10/
                                                  ENSP00000281038.5
            RefSeq Select criteria             :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-283               BP199309.1         1-283
            284-790             AW968557.1         1-507
            791-2288            BC007800.2         601-2098
            2289-2512           DB565980.1         235-458
FEATURES             Location/Qualifiers
     source          1..2512
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..2512
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /note="asparaginyl-tRNA synthetase 2, mitochondrial"
                     /db_xref="GeneID:79731"
                     /db_xref="HGNC:HGNC:26274"
                     /db_xref="MIM:612803"
     exon            1..517
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             377..1810
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /EC_number="6.1.1.22"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; asparagine tRNA ligase 2, mitochondrial
                     (putative); asparagine--tRNA ligase, mitochondrial;
                     probable asparagine--tRNA ligase, mitochondrial; deafness,
                     autosomal recessive 94; probable asparaginyl-tRNA
                     synthetase, mitochondrial; asparaginyl-tRNA synthetase 2,
                     mitochondrial (putative)"
                     /codon_start=1
                     /product="asparaginyl-tRNA synthetase isoform 1 precursor"
                     /protein_id="NP_078954.4"
                     /db_xref="CCDS:CCDS8261.1"
                     /db_xref="GeneID:79731"
                     /db_xref="HGNC:HGNC:26274"
                     /db_xref="MIM:612803"
                     /translation="MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERI
                     KIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSP
                     SKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRS
                     EATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLT
                     VSGQLHLEVMSGAFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVI
                     EELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLIISYTEAVEILKQAS
                     QNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAV
                     DLLVPGVGELFGGGLREERYHFLEERLARSGLTEVYQWYLDLRRFGSVPHGGFGMGFE
                     RYLQCILGVDNIKDVIPFPRFPHSCLL"
     exon            518..627
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            628..748
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            749..889
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            890..970
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1065
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1198
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1297
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1335
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1402
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1540
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1638
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1665
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1666..2512
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2194..2199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /note="hexamer: AATAAA"
     polyA_site      2215
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /note="major polyA site"
     regulatory      2268..2273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /note="hexamer: ATTAAA"
     polyA_site      2290
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
     regulatory      2487..2492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
                     /note="hexamer: AATAAA"
     polyA_site      2512
                     /gene="NARS2"
                     /gene_synonym="asnRS; DFNB94; SLM5"
ORIGIN      
        1 gtagcgtgat gacgtaagcg gcgttggcgt ggtgtggtag gagtggttgc gcgtgttgcg
       61 gcccgggttc tgttcgtagg tttacaattg tcgcgggtag tggggcgccc cagctgccaa
      121 ctgcacgtgg tttctttctg gcgtttgcct agtgtcctgt ccattccgcc ccgttgggaa
      181 gtgggaagcg gagaggttct gtggggacag agctgggagt cctgaaggag aaagcgcgca
      241 gccgaggggc tctggagtgc cttagagcag agctgcggcc gcggaagggg agcagctgag
      301 aaaggagggc cgctgcaggc ggggttcgaa ccgtggggtc tgggctgctc ccgcggaggg
      361 cctgggcgga cgcgggatgc tgggggtccg ctgcctgctg cggtccgtgc gcttctgttc
      421 ctccgccccc ttccccaagc acaaaccttc agccaaactg agcgtgcggg acgctctcgg
      481 ggctcagaac gcgagtgggg agcgcattaa gatccaggga tggattcgtt ctgtccgatc
      541 ccagaaggaa gtcttgttcc tgcatgtaaa tgatgggtca tctttggaaa gccttcaggt
      601 tgttgcagat tcaggccttg acagtagaga attaaatttt gggagttctg tggaagtaca
      661 agggcagctg ataaaaagtc catccaaaag gcaaaatgtg gaactgaagg cagaaaaaat
      721 taaagttatt ggaaattgtg atgccaagga tttccccatc aaatataaag agaggcatcc
      781 tctggagtat ctgcgacaat atcctcactt taggtgtagg actaacgttc tgggttctat
      841 attgaggatt cgcagtgaag cgacagctgc tattcattct ttctttaagg acagtggctt
      901 tgtacatatt catactccaa taatcacatc caatgactct gagggagctg gagaactttt
      961 tcaacttgaa ccttcaggca aacttaaggt acctgaggag aatttcttca atgttcctgc
     1021 tttcttaact gtctcaggac aacttcatct agaagtgatg tcaggagctt ttactcaagt
     1081 gtttaccttt ggtccgacct tccgagctga aaattctcag agccggaggc acctggcaga
     1141 gttttatatg atagaagcag agatttcttt tgttgacagc cttcaagatc ttatgcaggt
     1201 tatagaggaa ctgttcaagg ctacaacaat gatggttctc tcaaaatgtc ctgaagatgt
     1261 tgaactctgt cacaaattca tagcacctgg ccaaaaggac agattagaac atatgctaaa
     1321 aaacaacttt ttaatcattt cttatactga agcagtggag atcttaaagc aagcatccca
     1381 gaacttcacc tttaccccag agtggggtgc tgacctacgg actgaacatg aaaagtacct
     1441 ggtgaagcac tgtggcaaca tacctgtctt cgttattaat tatccattaa cactcaagcc
     1501 tttctacatg agggataatg aagatggccc tcagcacacg gttgctgctg ttgatcttct
     1561 ggttcctgga gttggggaac tctttggagg aggcctcaga gaagaacgat accatttctt
     1621 agaggagcgc ttagccagat cgggacttac agaagtctac caatggtatc tggaccttcg
     1681 tcgatttgga tctgtgccac atggaggttt tgggatggga tttgaacgct acctgcagtg
     1741 catcttgggt gttgacaata tcaaagatgt tatccctttc ccaaggtttc ctcattcatg
     1801 ccttttatag ctggaagatt ggttaaggaa aagcaccccc catggcagag acactgcaca
     1861 tgattgtgca tacagcagaa tgcatgtttg gattttagaa atgcagattt caatatgtaa
     1921 ttgttgtgcc ataagatatc atagaaaaaa tataagtggt tgtgattttc ttagaaagtt
     1981 gagggtattt cacgtaagga tgagctcccg caagaagagg tacttatagc aaggggactc
     2041 tcaaatccat tacctcaatt aagaaatgaa gaaattgaat tagtctcaaa gtttctttta
     2101 aactctaaaa cagaatgaga taatgtattt tacgttgtct ataatcatta aatcactccc
     2161 tgtgtaattt gtgagaacca tctagtagct cgaaataaaa taatgttgca tcttttctcc
     2221 cttgccatat actttgtgat aaatccttat ctcattttca gtacttcatt aaacattgca
     2281 gaaaaaaata ttccttaagg tcttaattga tttaaagaag tagctattct gaattgaaat
     2341 ctcctttcat tgaactggat gaaaaaatca tgtttaataa ctgttgcttt tcaattttca
     2401 aagctgttga gatattacat taagtatttc aactctttaa tcactgttgt tataatttgt
     2461 ttatatttga tgtttataat ttgtctaata aaatagattt ttttaataga ca
//
