LOCUS       NM_001099286            1789 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens mitochondrial fission regulator 2 (MTFR2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001099286
VERSION     NM_001099286.3
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 1789)
  AUTHORS   Wei,L., Feng,Z., Dou,Q., Tan,L., Zhao,X. and Hao,B.
  TITLE     Dysregulation of MTFR2, ATP5IF1 and BAK1 in Sertoli cells relates
            to idiopathic non-obstructive azoospermia via inhibiting
            mitochondrial fission and inducing mitochondrial dysfunctiondagger
  JOURNAL   Biol Reprod 110 (2), 408-418 (2024)
   PUBMED   37903059
  REMARK    GeneRIF: Dysregulation of MTFR2, ATP5IF1 and BAK1 in Sertoli cells
            relates to idiopathic non-obstructive azoospermia via inhibiting
            mitochondrial fission and inducing mitochondrial dysfunctiondagger.
REFERENCE   2  (bases 1 to 1789)
  AUTHORS   Zhang,L., Zhang,X., Liu,H., Yang,C., Yu,J., Zhao,W., Guo,J.,
            Zhou,B. and Jiang,N.
  TITLE     MTFR2-dependent mitochondrial fission promotes HCC progression
  JOURNAL   J Transl Med 22 (1), 73 (2024)
   PUBMED   38238834
  REMARK    GeneRIF: MTFR2-dependent mitochondrial fission promotes HCC
            progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1789)
  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 1789)
  AUTHORS   Xie,Y., Chen,R., Yan,L., Jia,Z., Liang,G. and Wang,Q.
  TITLE     Transcription factor HOXC10 activates the expression of MTFR2 to
            regulate the proliferation, invasion and migration of colorectal
            cancer cells
  JOURNAL   Mol Med Rep 24 (5) (2021)
   PUBMED   34523692
  REMARK    GeneRIF: Transcription factor HOXC10 activates the expression of
            MTFR2 to regulate the proliferation, invasion and migration of
            colorectal cancer cells.
REFERENCE   5  (bases 1 to 1789)
  AUTHORS   Li,D., Ji,Y., Guo,J. and Guo,Q.
  TITLE     Upregulated expression of MTFR2 as a novel biomarker predicts poor
            prognosis in hepatocellular carcinoma by bioinformatics analysis
  JOURNAL   Future Oncol 17 (24), 3187-3201 (2021)
   PUBMED   34156259
  REMARK    GeneRIF: Upregulated expression of MTFR2 as a novel biomarker
            predicts poor prognosis in hepatocellular carcinoma by
            bioinformatics analysis.
REFERENCE   6  (bases 1 to 1789)
  AUTHORS   Chen,C., Tang,Y., Qu,W.D., Han,X., Zuo,J.B., Cai,Q.Y., Xu,G.,
            Song,Y.X. and Ke,X.X.
  TITLE     Evaluation of clinical value and potential mechanism of MTFR2 in
            lung adenocarcinoma via bioinformatics
  JOURNAL   BMC Cancer 21 (1), 619 (2021)
   PUBMED   34039308
  REMARK    GeneRIF: Evaluation of clinical value and potential mechanism of
            MTFR2 in lung adenocarcinoma via bioinformatics.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1789)
  AUTHORS   Lu,G., Lai,Y., Wang,T., Lin,W., Lu,J., Ma,Y., Chen,Y., Ma,H.,
            Liu,R. and Li,J.
  TITLE     Mitochondrial fission regulator 2 (MTFR2) promotes growth,
            migration, invasion and tumour progression in breast cancer cells
  JOURNAL   Aging (Albany NY) 11 (22), 10203-10219 (2019)
   PUBMED   31740625
  REMARK    GeneRIF: Mitochondrial fission regulator 2 (MTFR2) promotes growth,
            migration, invasion and tumour progression in breast cancer cells.
            Erratum:[Aging (Albany NY). 2020 Jan 8;12(1):1034-1036. doi:
            10.18632/aging.102758.. PMID: 31955153]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB016393.1 and BC063688.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001099286.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            2 encode the same protein (isoform a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.229274.1, AK292303.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2152474 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000420702.6/
                                                  ENSP00000395232.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-571               DB016393.1         1-571
            572-1789            BC063688.1         261-1478
FEATURES             Location/Qualifiers
     source          1..1789
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.3"
     gene            1..1789
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /note="mitochondrial fission regulator 2"
                     /db_xref="GeneID:113115"
                     /db_xref="HGNC:HGNC:21115"
     exon            1..336
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     exon            337..453
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     CDS             391..1548
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /note="isoform a is encoded by transcript variant 1;
                     DUF729 domain-containing protein 1; family with sequence
                     similarity 54, member A"
                     /codon_start=1
                     /product="mitochondrial fission regulator 2 isoform a"
                     /protein_id="NP_001092756.1"
                     /db_xref="CCDS:CCDS5176.1"
                     /db_xref="GeneID:113115"
                     /db_xref="HGNC:HGNC:21115"
                     /translation="MSLILNILREMLEYFGVPVEQVLLIWENKDYGSTRSIVRIIGKM
                     LPLEPCRRPNFELIPLLNSVDSDNCGSMVPSFADILYVANDEEASYLRFRNSIWKNEE
                     EKVEIFHPLRLVRDPLSPAVRQKETVKNDLPVNEAAIRKIAALENELTFLRSQIAAIV
                     EMQELKNSTNSSSFGLSDERISLGQLSSSRAAHLSVDPDQLPGSVLSPPPPPPLPPQF
                     SSLQPPCFPPVQPGSNNICDSDNPATEMSKQNPAANKTNYSHHSKSQRNKDIPNMLDV
                     LKDMNKVKLRAIERSPGGRPIHKRKRQNSHWDPVSLISHALKQKFAFQEDDSFEKENR
                     SWESSPFSSPETSRFGHHISQSEGQRTKEEMVNTKAVDQGISNTSLLNSRI"
     exon            454..558
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     exon            559..671
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     exon            672..904
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1259
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1434
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1789
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1771..1776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /note="hexamer: AATAAA"
     polyA_site      1789
                     /gene="MTFR2"
                     /gene_synonym="DUFD1; FAM54A"
                     /note="major polyA site"
ORIGIN      
        1 agcagtcctg tcatgcggaa gtagcagtcc ggtcctaggg actagcaggt gggttggttg
       61 ggcgcaggag gacgggggcg cgcttcccat aacattaccc tggctgagcg tgaggctcca
      121 gggctgggca ccgggttgac ctcttattcc tcgctgaggg catcgttacc gcctgtggct
      181 gcaagccgag gcgcgcgggt ggaaactggg tcgaggtctg ggtagacgtc tgagcgatct
      241 gcacaaggag tggcgcagtc tggaatttga ttgaggattc ctaacgccct ccgcttgatg
      301 ttctggtgat tcccgggggc tcggcttcgg aggaaggcac caagaaactg ataatgttcc
      361 tttgaattgg cttctgtatt tgcttcatca atgtctctca tactgaatat cttaagagag
      421 atgctggaat attttggcgt tcctgtagaa caggttttgc tgatttggga aaataaagac
      481 tatggatcaa ctaggagtat tgttcgtatt attgggaaaa tgcttccact ggaaccttgt
      541 cgaagaccta attttgagtt gatcccgctc ttgaactctg tagactctga taattgtgga
      601 tctatggttc catcttttgc tgatattttg tatgtggcaa atgatgaaga agccagttat
      661 ctcagatttc gaaatagtat atggaaaaat gaagaagaga aagtggaaat ttttcatcct
      721 ttgcgactag ttcgggatcc actgtcacct gctgtaagac agaaagaaac tgtgaaaaat
      781 gacctgcctg taaatgaagc tgcaattaga aaaatagctg cccttgaaaa tgagctgact
      841 tttcttcgct ctcagattgc agcaattgtg gaaatgcagg aactgaaaaa tagtacaaat
      901 tctagttcct ttggcttgag tgacgagcgc attagtttgg gtcagctgtc atcatcgcgg
      961 gctgcccatc tgagtgtgga cccagatcag cttccaggtt cagtgctttc tcctcctcct
     1021 cctccaccac ttcctcctca gttttcatct ctccagccac cgtgttttcc tcccgtacaa
     1081 ccaggatcta ataatatttg tgactcagat aatccagcaa ctgaaatgag caaacagaac
     1141 ccggctgcta ataagaccaa ttatagtcat cattcaaaaa gccagagaaa taaagatatt
     1201 ccaaacatgt tggacgttct aaaggatatg aataaggtta agcttcgtgc aattgagcgg
     1261 tcacctggcg gtagacccat tcataagagg aaaagacaga attcacattg ggatccagtt
     1321 tctttaatat ctcatgcact taaacagaaa tttgcatttc aagaagatga ttcttttgag
     1381 aaagagaata gatcttggga atcttcccca ttttctagtc cagaaacttc aaggtttgga
     1441 catcacattt cacagtcaga aggacagcga actaaagaag aaatggtcaa cacaaaagct
     1501 gttgaccaag gtatcagcaa cacaagcctt ctaaactcaa ggatttaaac tcaacttaag
     1561 gttgagcttt aaacttccaa aacttcttcc tggatgataa attattctta gaaactgatt
     1621 tggactgtta aaggctaaaa gtagatgtat ttaaagactc ttcttgacac attttgccta
     1681 cacttgctat gtaaatatgt atgcctgtca tttttgtttc ctttgttcct ttttacgttt
     1741 atactctgtt cttctgtaca tagagcttaa aataaacatt ctttttgaa
//
