LOCUS       NM_014342               2522 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens mitochondrial carrier 2 (MTCH2), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014342
VERSION     NM_014342.4
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 2522)
  AUTHORS   Ulupinar,P., Caglayan,E., Rayaman,E., Nagata,K. and Turan,K.
  TITLE     The mitochondrial carrier homolog 2 is involved in down-regulation
            of influenza A virus replication
  JOURNAL   Mol Biol Rep 51 (1), 642 (2024)
   PUBMED   38727866
  REMARK    GeneRIF: The mitochondrial carrier homolog 2 is involved in
            down-regulation of influenza A virus replication.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2522)
  AUTHORS   Zheng,X. and Chu,B.
  TITLE     The biology of mitochondrial carrier homolog 2
  JOURNAL   Mitochondrion 75, 101837 (2024)
   PUBMED   38158152
  REMARK    GeneRIF: The biology of mitochondrial carrier homolog 2.
            Review article
REFERENCE   3  (bases 1 to 2522)
  AUTHORS   Goldman,A., Mullokandov,M., Zaltsman,Y., Regev,L., Levin-Zaidman,S.
            and Gross,A.
  TITLE     MTCH2 cooperates with MFN2 and lysophosphatidic acid synthesis to
            sustain mitochondrial fusion
  JOURNAL   EMBO Rep 25 (1), 45-67 (2024)
   PUBMED   38177900
  REMARK    GeneRIF: MTCH2 cooperates with MFN2 and lysophosphatidic acid
            synthesis to sustain mitochondrial fusion.
REFERENCE   4  (bases 1 to 2522)
  AUTHORS   Guna,A., Stevens,T.A., Inglis,A.J., Replogle,J.M., Esantsi,T.K.,
            Muthukumar,G., Shaffer,K.C.L., Wang,M.L., Pogson,A.N., Jones,J.J.,
            Lomenick,B., Chou,T.F., Weissman,J.S. and Voorhees,R.M.
  TITLE     MTCH2 is a mitochondrial outer membrane protein insertase
  JOURNAL   Science 378 (6617), 317-322 (2022)
   PUBMED   36264797
REFERENCE   5  (bases 1 to 2522)
  AUTHORS   Eswarappa,S.M., Potdar,A.A., Koch,W.J., Fan,Y., Vasu,K.,
            Lindner,D., Willard,B., Graham,L.M., DiCorleto,P.E. and Fox,P.L.
  TITLE     Programmed translational readthrough generates antiangiogenic
            VEGF-Ax
  JOURNAL   Cell 157 (7), 1605-1618 (2014)
   PUBMED   24949972
REFERENCE   6  (bases 1 to 2522)
  AUTHORS   Renstrom,F., Payne,F., Nordstrom,A., Brito,E.C., Rolandsson,O.,
            Hallmans,G., Barroso,I., Nordstrom,P. and Franks,P.W.
  CONSRTM   GIANT Consortium
  TITLE     Replication and extension of genome-wide association study results
            for obesity in 4923 adults from northern Sweden
  JOURNAL   Hum Mol Genet 18 (8), 1489-1496 (2009)
   PUBMED   19164386
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2522)
  AUTHORS   Willer,C.J., Speliotes,E.K., Loos,R.J., Li,S., Lindgren,C.M.,
            Heid,I.M., Berndt,S.I., Elliott,A.L., Jackson,A.U., Lamina,C.,
            Lettre,G., Lim,N., Lyon,H.N., McCarroll,S.A., Papadakis,K., Qi,L.,
            Randall,J.C., Roccasecca,R.M., Sanna,S., Scheet,P., Weedon,M.N.,
            Wheeler,E., Zhao,J.H., Jacobs,L.C., Prokopenko,I., Soranzo,N.,
            Tanaka,T., Timpson,N.J., Almgren,P., Bennett,A., Bergman,R.N.,
            Bingham,S.A., Bonnycastle,L.L., Brown,M., Burtt,N.P., Chines,P.,
            Coin,L., Collins,F.S., Connell,J.M., Cooper,C., Smith,G.D.,
            Dennison,E.M., Deodhar,P., Elliott,P., Erdos,M.R., Estrada,K.,
            Evans,D.M., Gianniny,L., Gieger,C., Gillson,C.J., Guiducci,C.,
            Hackett,R., Hadley,D., Hall,A.S., Havulinna,A.S., Hebebrand,J.,
            Hofman,A., Isomaa,B., Jacobs,K.B., Johnson,T., Jousilahti,P.,
            Jovanovic,Z., Khaw,K.T., Kraft,P., Kuokkanen,M., Kuusisto,J.,
            Laitinen,J., Lakatta,E.G., Luan,J., Luben,R.N., Mangino,M.,
            McArdle,W.L., Meitinger,T., Mulas,A., Munroe,P.B., Narisu,N.,
            Ness,A.R., Northstone,K., O'Rahilly,S., Purmann,C., Rees,M.G.,
            Ridderstrale,M., Ring,S.M., Rivadeneira,F., Ruokonen,A.,
            Sandhu,M.S., Saramies,J., Scott,L.J., Scuteri,A., Silander,K.,
            Sims,M.A., Song,K., Stephens,J., Stevens,S., Stringham,H.M.,
            Tung,Y.C., Valle,T.T., Van Duijn,C.M., Vimaleswaran,K.S.,
            Vollenweider,P., Waeber,G., Wallace,C., Watanabe,R.M.,
            Waterworth,D.M., Watkins,N., Witteman,J.C., Zeggini,E., Zhai,G.,
            Zillikens,M.C., Altshuler,D., Caulfield,M.J., Chanock,S.J.,
            Farooqi,I.S., Ferrucci,L., Guralnik,J.M., Hattersley,A.T., Hu,F.B.,
            Jarvelin,M.R., Laakso,M., Mooser,V., Ong,K.K., Ouwehand,W.H.,
            Salomaa,V., Samani,N.J., Spector,T.D., Tuomi,T., Tuomilehto,J.,
            Uda,M., Uitterlinden,A.G., Wareham,N.J., Deloukas,P.,
            Frayling,T.M., Groop,L.C., Hayes,R.B., Hunter,D.J., Mohlke,K.L.,
            Peltonen,L., Schlessinger,D., Strachan,D.P., Wichmann,H.E.,
            McCarthy,M.I., Boehnke,M., Barroso,I., Abecasis,G.R. and
            Hirschhorn,J.N.
  CONSRTM   Wellcome Trust Case Control Consortium; Genetic Investigation of
            ANthropometric Traits Consortium
  TITLE     Six new loci associated with body mass index highlight a neuronal
            influence on body weight regulation
  JOURNAL   Nat Genet 41 (1), 25-34 (2009)
   PUBMED   19079261
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2522)
  AUTHORS   Grinberg,M., Schwarz,M., Zaltsman,Y., Eini,T., Niv,H.,
            Pietrokovski,S. and Gross,A.
  TITLE     Mitochondrial carrier homolog 2 is a target of tBID in cells
            signaled to die by tumor necrosis factor alpha
  JOURNAL   Mol Cell Biol 25 (11), 4579-4590 (2005)
   PUBMED   15899861
  REMARK    GeneRIF: Mtch2 is a mitochondrial target of tBID and possibly
            participates in the mitochondrial apoptotic program.
REFERENCE   9  (bases 1 to 2522)
  AUTHORS   Yerushalmi,G.M., Leibowitz-Amit,R., Shaharabany,M. and Tsarfaty,I.
  TITLE     Met-HGF/SF signal transduction induces mimp, a novel mitochondrial
            carrier homologue, which leads to mitochondrial depolarization
  JOURNAL   Neoplasia 4 (6), 510-522 (2002)
   PUBMED   12407445
REFERENCE   10 (bases 1 to 2522)
  AUTHORS   Beier,H. and Grimm,M.
  TITLE     Misreading of termination codons in eukaryotes by natural nonsense
            suppressor tRNAs
  JOURNAL   Nucleic Acids Res 29 (23), 4767-4782 (2001)
   PUBMED   11726686
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313032.1, AY380792.1 and
            AC104942.5.
            
            On Nov 23, 2018 this sequence version replaced NM_014342.3.
            
            Summary: This gene encodes a member of the SLC25 family of
            nuclear-encoded transporters that are localized in the inner
            mitochondrial membrane. Members of this superfamily are involved in
            many metabolic pathways and cell functions. Genome-wide association
            studies in human have identified single-nucleotide polymorphisms in
            several loci associated with obesity. This gene is one such locus,
            which is highly expressed in white adipose tissue and adipocytes,
            and thought to play a regulatory role in adipocyte differentiation
            and biology. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. A recent study
            showed this gene to be an authentic stop codon readthrough target
            that can produce two isoforms from the same mRNA by use of
            alternative in-frame translation termination codons. [provided by
            RefSeq, Dec 2017].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes two isoforms, which result from the use of
            alternative in-frame translation termination codons. The shorter
            isoform (1) results from translation termination at the upstream
            UGA stop codon, while the longer isoform (1x) results from UGA stop
            codon readthrough to the downstream UAG termination codon. This
            RefSeq represents the shorter isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803616.269157.1,
                                           SRR1803614.157346.1 [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                 :: ENST00000302503.8/
                                                  ENSP00000303222.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1006              AK313032.1         39-1044
            1007-1780           AY380792.1         960-1733
            1781-2522           AC104942.5         113883-114624
FEATURES             Location/Qualifiers
     source          1..2522
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..2522
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /note="mitochondrial carrier 2"
                     /db_xref="GeneID:23788"
                     /db_xref="HGNC:HGNC:17587"
                     /db_xref="MIM:613221"
     exon            1..181
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1006
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /note="isoform 1 is encoded by transcript variant 1;
                     met-induced mitochondrial protein; mitochondrial carrier
                     homolog 2; solute carrier family 25, member 50"
                     /codon_start=1
                     /product="mitochondrial carrier homolog 2 isoform 1"
                     /protein_id="NP_055157.1"
                     /db_xref="CCDS:CCDS7943.1"
                     /db_xref="GeneID:23788"
                     /db_xref="HGNC:HGNC:17587"
                     /db_xref="MIM:613221"
                     /translation="MADAASQVLLGSGLTILSQPLMYVKVLIQVGYEPLPPTIGRNIF
                     GRQVCQLPGLFSYAQHIASIDGRRGLFTGLTPRLCSGVLGTVVHGKVLQHYQESDKGE
                     ELGPGNVQKEVSSSFDHVIKETTREMIARSAATLITHPFHVITLRSMVQFIGRESKYC
                     GLCDSIITIYREEGILGFFAGLVPRLLGDILSLWLCNSLAYLVNTYALDSGVSTMNEM
                     KSYSQAVTGFFASMLTYPFVLVSNLMAVNNCGLAGGCPPYSPIYTSWIDCWCMLQKEG
                     NMSRGNSLFFRKVPFGKTYCCDLKMLI"
     exon            182..266
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            267..373
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            374..400
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            401..463
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            464..521
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            522..573
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            574..633
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            634..727
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            728..775
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            776..843
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            844..919
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     exon            920..2522
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1102..1107
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /note="hexamer: AATAAT"
     polyA_site      1129
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /note="major polyA site"
     regulatory      2500..2505
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
                     /note="hexamer: AGTAAA"
     polyA_site      2522
                     /gene="MTCH2"
                     /gene_synonym="HSPC032; MIMP; SLC25A50"
ORIGIN      
        1 agtgaaaccg gcggccctgg cacgtgacct aggaccggct caccgggtcg cttggtggct
       61 ccgtctgtct gtccgtccgc ccgcgggtgc catcatggcg gacgcggcca gtcaggtgct
      121 cctgggctcc ggtctcacca tcctgtccca gccgctcatg tacgtgaaag tgctcatcca
      181 ggtgggatat gagcctcttc ctccaacaat aggacgaaat atttttgggc ggcaagtgtg
      241 tcagcttcct ggtctcttta gttatgctca gcacattgcc agtatcgatg ggaggcgcgg
      301 gttgttcaca ggcttaactc caagactgtg ttcgggagtc cttggaactg tggtccatgg
      361 taaagtttta cagcattacc aggagagtga caagggtgag gagttaggac ctggaaatgt
      421 acagaaagaa gtctcatctt cctttgacca cgttatcaag gagacaactc gagagatgat
      481 cgctcgttct gctgctaccc tcatcacaca tcccttccat gtgatcactc tgagatctat
      541 ggtacagttc attggcagag aatccaagta ctgtggactt tgtgattcca taataaccat
      601 ctatcgggaa gagggcattc taggattttt cgcgggtctt gttcctcgcc ttctaggtga
      661 catcctttct ttgtggctgt gtaactcact ggcctacctc gtcaatacct atgcactgga
      721 cagtggggtt tctaccatga atgaaatgaa gagttattct caagctgtca caggattttt
      781 tgcgagtatg ttgacctatc cctttgtgct tgtctccaat cttatggctg tcaacaactg
      841 tggtcttgct ggtggatgcc ctccttactc cccaatatat acgtcttgga tagactgttg
      901 gtgcatgcta caaaaagagg ggaatatgag ccgaggaaat agcttatttt tccggaaggt
      961 cccctttggg aagacttatt gttgtgacct gaaaatgtta atttgaagat gtggggcagg
     1021 gacagtgaca tttctgtagt cccagatgca cagaattatg ggagagaatg ttgatttcta
     1081 tacagtgtgg cgcgcttttt taataatcat ttaatcttgg gaaaattcag gtgtttggtg
     1141 tctgcctttt ttgttctttt ttccagcaca acataactta ccactgatac tcccccttta
     1201 gttattctga attaggatat ttttgctcca aattcttatt ttacttaacc agaagggaaa
     1261 aaaagttgta ttttcctgaa gctacaggca ctttgtcatg tgatttttga gtctcaattt
     1321 aaggctttgt aaaatgaaga gtagaattcc aagaaaaatg agaaataatt ttgtaaaact
     1381 taacaaaatc actaaattaa actatatggg aggttatgaa ttactttttc ttgggtagac
     1441 cctaaaatgt cagtagcatg caccagaatc tgactcccat tatgcttcta agcacatttc
     1501 attgaccttg tctctcatac ttcaagaaaa ggacagtaca ttgctacatt accctagaaa
     1561 gtctgtgtga ggatctgccc cttcagtctg ttattgcaaa gtaataaaat gtcacctaca
     1621 gggagcctct gagcctactc tagttcaaga ggctacctga aaaaaaataa ataagataaa
     1681 gggtcagcaa caacaaagaa aaagacaatt acagaaaata agcaagattt ggaaaggaag
     1741 tataatggca cttttttcct caaaggaagt tcttgttttc acataaaata tgaaaagcag
     1801 atcctgcagg agtaaccccc ttctttaaga gccaagtatt tgccagtgct taaattacac
     1861 catacagttc taattatata taatcttttg ttcttcagtt ttttgttttg tttccttttt
     1921 gttattgttg ccgaaggtga gtagttttgc atttctgatg acagccttgg aaagtatatt
     1981 tgtaactcca tgtctggtaa tgccaaccca agtcgacatg ggtcttagga cactgaccac
     2041 ctcacatgcc ataccctcag ttaagcatgt taacatttat aggaggaaaa aaatcacttt
     2101 gggagaaaat aaaattcaac tcaagcataa agcttctgtt tactcaggcc ttctaaaaag
     2161 caggttaaaa tgctctaaaa tgagaaagcc tgtggtttca cttatttata taactcactg
     2221 ggacattgcc aaatgagtaa gcacttaatt cgctgcttct gagacttctc tgtcaaaaca
     2281 gccccactga taatattaga cagaacgaga atgcaggggt ctcttccctc ccctggggtt
     2341 taggaagctc atgaggagct cggcttaaaa tgtctttgat gtctcttcct ttgtctcaaa
     2401 aagtaatgtc aattttatat actatttcaa tattactatc tgcatttgtt ttaatataaa
     2461 aatgtttgct gcctaccttt ttctcccaaa aaatctttaa gtaaagatga tctgggaaaa
     2521 tg
//
