LOCUS       NM_014874               4407 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens mitofusin 2 (MFN2), transcript variant 1, mRNA.
ACCESSION   NM_014874
VERSION     NM_014874.4
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 4407)
  AUTHORS   Lu,L., Ning,Y., Gu,F., Lin,Z., Qin,Y., Feng,L., Tang,M. and Cao,Y.
  TITLE     The circular RNA circSLC16A10 alleviates diabetic retinopathy by
            improving mitochondrial function via the miR-761-5p/MFN2 axis
  JOURNAL   Cell Signal 121, 111283 (2024)
   PUBMED   38960059
  REMARK    GeneRIF: The circular RNA circSLC16A10 alleviates diabetic
            retinopathy by improving mitochondrial function via the
            miR-761-5p/MFN2 axis.
REFERENCE   2  (bases 1 to 4407)
  AUTHORS   Wang,Y., Lun,J., Zhang,Y., Yu,M., Liu,X., Guo,J., Zhang,H., Qiu,W.
            and Fang,J.
  TITLE     miR-373-3p promotes aerobic glycolysis in colon cancer cells by
            targeting MFN2
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 56 (10), 1498-1508 (2024)
   PUBMED   38946424
  REMARK    GeneRIF: miR-373-3p promotes aerobic glycolysis in colon cancer
            cells by targeting MFN2.
REFERENCE   3  (bases 1 to 4407)
  AUTHORS   Zhou,C., Li,Z., Li,Y., Li,Y., Wang,W., Shang,W., Liu,J.P., Wang,L.
            and Tong,C.
  TITLE     TRABD modulates mitochondrial homeostasis and tissue integrity
  JOURNAL   Cell Rep 43 (6), 114304 (2024)
   PUBMED   38843396
REFERENCE   4  (bases 1 to 4407)
  AUTHORS   Nie,X., Fan,J., Wang,Y., Xie,R., Chen,C., Li,H. and Wang,D.W.
  TITLE     lncRNA ZNF593-AS inhibits cardiac hypertrophy and myocardial
            remodeling by upregulating Mfn2 expression
  JOURNAL   Front Med 18 (3), 484-498 (2024)
   PUBMED   38743133
  REMARK    GeneRIF: lncRNA ZNF593-AS inhibits cardiac hypertrophy and
            myocardial remodeling by upregulating Mfn2 expression.
REFERENCE   5  (bases 1 to 4407)
  AUTHORS   Karbowski,M., Lee,Y.J., Gaume,B., Jeong,S.Y., Frank,S.,
            Nechushtan,A., Santel,A., Fuller,M., Smith,C.L. and Youle,R.J.
  TITLE     Spatial and temporal association of Bax with mitochondrial fission
            sites, Drp1, and Mfn2 during apoptosis
  JOURNAL   J Cell Biol 159 (6), 931-938 (2002)
   PUBMED   12499352
  REMARK    GeneRIF: Drp1 and Mfn2, but not other proteins implicated in the
            regulation of mitochondrial morphology, colocalize with Bax in
            apoptotic foci
REFERENCE   6  (bases 1 to 4407)
  AUTHORS   Rojo,M., Legros,F., Chateau,D. and Lombes,A.
  TITLE     Membrane topology and mitochondrial targeting of mitofusins,
            ubiquitous mammalian homologs of the transmembrane GTPase Fzo
  JOURNAL   J Cell Sci 115 (Pt 8), 1663-1674 (2002)
   PUBMED   11950885
  REMARK    GeneRIF: Results show that Fzo homologs mitofusin 1 and 2 are
            ubiquitous mitochondrial membrane proteins that interact with each
            other to facilitate mitochondrial targeting.
REFERENCE   7  (bases 1 to 4407)
  AUTHORS   Santel,A. and Fuller,M.T.
  TITLE     Control of mitochondrial morphology by a human mitofusin
  JOURNAL   J Cell Sci 114 (Pt 5), 867-874 (2001)
   PUBMED   11181170
REFERENCE   8  (bases 1 to 4407)
  AUTHORS   Zuchner,S.
  TITLE     MFN2 Hereditary Motor and Sensory Neuropathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301684
REFERENCE   9  (bases 1 to 4407)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   10 (bases 1 to 4407)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC401346.1, BC017061.1,
            AL137666.1 and AI857365.1.
            
            On Aug 31, 2019 this sequence version replaced NM_014874.3.
            
            Summary: This gene encodes a mitochondrial membrane protein that
            participates in mitochondrial fusion and contributes to the
            maintenance and operation of the mitochondrial network. This
            protein is involved in the regulation of vascular smooth muscle
            cell proliferation, and it may play a role in the pathophysiology
            of obesity. Mutations in this gene cause Charcot-Marie-Tooth
            disease type 2A2, and hereditary motor and sensory neuropathy VI,
            which are both disorders of the peripheral nervous system. Defects
            in this gene have also been associated with early-onset stroke. Two
            transcript variants encoding the same protein have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: D86987.1, AF036536.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000235329.10/
                                                  ENSP00000235329.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DC401346.1         264-270
            8-2521              BC017061.1         1-2514
            2522-4404           AL137666.1         673-2555
            4405-4407           AI857365.1         16-18               c
FEATURES             Location/Qualifiers
     source          1..4407
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..4407
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /note="mitofusin 2"
                     /db_xref="GeneID:9927"
                     /db_xref="HGNC:HGNC:16877"
                     /db_xref="MIM:608507"
     exon            1..41
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            42..186
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            187..365
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..2464
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /note="hyperplasia suppressor; mitochondrial assembly
                     regulatory factor; transmembrane GTPase MFN2"
                     /codon_start=1
                     /product="mitofusin-2"
                     /protein_id="NP_055689.1"
                     /db_xref="CCDS:CCDS30587.1"
                     /db_xref="GeneID:9927"
                     /db_xref="HGNC:HGNC:16877"
                     /db_xref="MIM:608507"
                     /translation="MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFE
                     QLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFF
                     GRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTV
                     NQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCL
                     DADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQ
                     HMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVR
                     MFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEE
                     MREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQM
                     DFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVS
                     VRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRAL
                     MGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGV
                     VWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGS
                     NCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGW
                     LDSELNMFTHQYLQPSR"
     exon            366..501
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            502..664
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            665..789
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            790..898
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1006
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1160
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1228
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1350
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1477
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1582
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1685
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..1906
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            1907..2062
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2259
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            2260..2394
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..4407
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4386..4391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /note="hexamer: AATAAA"
     polyA_site      4407
                     /gene="MFN2"
                     /gene_synonym="CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1;
                     HMSN6A; HSG; MARF; MSL"
                     /note="major polyA site"
ORIGIN      
        1 gtagtgagtg tgatggccgc cgcgaggccg ggaaggtgaa gtcaggactg gtggagtcaa
       61 cacagtcaat caatagccaa cctcaacctg agacaggaca gaagagaact cagaatcttt
      121 ttgtcttttg gacttcagcc atgtccatga tgcctaccct gtgaagatct ctcaccatcc
      181 aaaaaacgca atgtccctgc tcttctctcg atgcaactct atcgtcacag tcaagaaaaa
      241 taagagacac atggctgagg tgaatgcatc cccacttaag cactttgtca ctgccaagaa
      301 gaagatcaat ggcatttttg agcagctggg ggcctacatc caggagagcg ccaccttcct
      361 tgaagacacg tacaggaatg cagaactgga ccccgttacc acagaagaac aggttctgga
      421 cgtcaaaggt tacctatcca aagtgagagg catcagtgag gtgctggctc ggaggcacat
      481 gaaagtggct ttttttggcc ggacgagcaa tgggaagagc accgtgatca atgccatgct
      541 ctgggacaaa gttctgccct ctgggattgg ccacaccacc aattgcttcc tgcgggtaga
      601 gggcacagat ggccatgagg cctttctcct taccgagggc tcagaggaaa agaggagtgc
      661 caagactgtg aaccagctgg cccatgccct ccaccaggac aagcagctcc atgccggcag
      721 cctagtgagt gtgatgtggc ccaactctaa gtgcccactt ctgaaggatg acctcgtttt
      781 gatggacagc cctggtattg atgtcaccac agagctggac agctggattg acaagttttg
      841 tctggatgct gatgtgtttg tgctggtggc caactcagag tccaccctga tgcagacgga
      901 aaagcacttc ttccacaagg tgagtgagcg tctctcccgg ccaaacatct tcatcctgaa
      961 caaccgctgg gatgcatctg cctcagagcc cgagtacatg gaggaggtgc ggcggcagca
     1021 catggagcgt tgtaccagct tcctggtgga tgagctgggc gtggtggatc gatcccaggc
     1081 cggggaccgc atcttctttg tgtctgctaa ggaggtgctc aacgccagga ttcagaaagc
     1141 ccagggcatg cctgaaggag ggggcgctct cgcagaaggc tttcaagtga ggatgtttga
     1201 gtttcagaat tttgagagga gatttgagga gtgcatctcc cagtctgcag tgaagaccaa
     1261 gtttgagcag cacacggtcc gggccaagca gattgcagag gcggttcgac tcatcatgga
     1321 ctccctgcac atggcggctc gggagcagca ggtttactgc gaggaaatgc gtgaagagcg
     1381 gcaagaccga ctgaaattta ttgacaaaca gctggagctc ttggctcaag actataagct
     1441 gcgaattaag cagattacgg aggaagtgga gaggcaggtg tcgactgcaa tggccgagga
     1501 gatcaggcgc ctctctgtac tggtggacga ttaccagatg gacttccacc cttctccagt
     1561 agtcctcaag gtttataaga atgagctgca ccgccacata gaggaaggac tgggtcgaaa
     1621 catgtctgac cgctgctcca cggccatcac caactccctg cagaccatgc agcaggacat
     1681 gatagatggc ttgaaacccc tccttcctgt gtctgtgcgg agtcagatag acatgctggt
     1741 cccacgccag tgcttctccc tcaactatga cctaaactgt gacaagctgt gtgctgactt
     1801 ccaggaagac attgagttcc atttctctct cggatggacc atgctggtga ataggttcct
     1861 gggccccaag aacagccgtc gggccttgat gggctacaat gaccaggtcc agcgtcccat
     1921 ccctctgacg ccagccaacc ccagcatgcc cccactgcca cagggctcgc tcacccagga
     1981 ggagttcatg gtttccatgg ttaccggcct ggcctccttg acatccagga cctccatggg
     2041 cattcttgtt gttggaggag tggtgtggaa ggcagtgggc tggcggctca ttgccctctc
     2101 ctttgggctc tatggcctcc tctacgtcta tgagcgtctg acctggacca ccaaggccaa
     2161 ggagagggcc ttcaagcgcc agtttgtgga gcatgccagc gagaagctgc agcttgtcat
     2221 cagctacact ggctccaact gcagccacca agtccagcag gaactgtctg ggacctttgc
     2281 tcatctgtgt cagcaagttg acgtcacccg ggagaacctg gagcaggaaa ttgccgccat
     2341 gaacaagaaa attgaggttc ttgactcact tcagagcaaa gcaaagctgc tcaggaataa
     2401 agccggttgg ttggacagtg agctcaacat gttcacacac cagtacctgc agcccagcag
     2461 atagtgggca cctgaggcgg agtctgcgtg gagaggggcg gtgctgccag ccctaagtgc
     2521 catgtgggct cccccagggg cacgtgtggc tcctgccccc tggccactgc caagagaatg
     2581 aagcacccag tctcgtacca ttttgagccc tccagcacta cttattttcc cccacctttg
     2641 cctgctgttg ctggaagagc tggctcatac ccccaaagga cactttcagc gacagctatg
     2701 gacagcatgg taccaaggag ttaagttgag gctttttcca gctttctctg gttcatttga
     2761 ttgcttgata aggcctcagg atctcagcat tgcacaatgc ctcatggaag cctttgaggg
     2821 tatcacacag acacccccac cttcctccag cctgtgcgca cctgccctcc ttgcagccca
     2881 gcacacctgc aggtgtaagg gacgattgga gtttcttccc agagagtctg tcccagaagg
     2941 actgtggctt gtgtgtgtcc atctcgcctg ttggctcagt gcttcatccc atttgcagag
     3001 cctcagacac gtcttggtgg tgaggctcag ttacccctgg gcttaggctg aggcgggccc
     3061 tgtgctgggg gtggtagaaa ggatgctgct gaggcagctg gaggagtggg agtagctcag
     3121 aggggagggc tgttggatgt atggggagct ggcagagcag gtggcagtca ctgggacaag
     3181 gagggacttg cctctcttct cattattgtg tcctttgctt tagtgtcagt cctggacttg
     3241 tgcaggcctg ttttgtgtag atctgttttg gaagatggca tggtctaggt ggttgaagga
     3301 tgtagtagaa ggatggatgg tggaaggtgg ggacgttggt ggctggctga ggtgcatggg
     3361 ccccacacag gacagctgga gaatgggccg tccacttggc ctcgttctgc gaggggctca
     3421 tgggtctgag agcccccacc cactaggctt gattgcatcc ctgttgtgcc ctttaagaga
     3481 catgtttcca ccccaccccc aaccttgtcc caagtgccct ggactaaatt tcctgtgcca
     3541 gtgactgcag ttggccaagg gacaatgtgg aaaacccagt gtccatcttt ccaccctccc
     3601 tgatctccag aaccttcgac tgaccccctt gtctttatgc tgatgttgag ttttgggatt
     3661 gttactggtt gaagtggggg cagatgcctg tcaccaaggt gttgactgtg tgagaaaagc
     3721 agtttgggtg acaaatcctg tgtggcacaa gttggatcgc ttcctagaaa taagcaacac
     3781 ctctcccaaa aagcagccca caaggcaggg gcccagcagc ccagccatca ctcatctttg
     3841 aggaaatgag ttggtagcct ctgtgcactg tttggtggcc acatcacagg tgatgtcctg
     3901 ttcacatacc tgcttgtatt taaagccctc agtctgtcct gttgtgtggg gcgaagtgat
     3961 ggactctgcc aggtggacat gctgtgggtg gatgttcccg gcgtgtgccg ggcctgaatg
     4021 gacaggggcc acttcacagc atgtcaggga aaatcactgt cacacaattc caatggattt
     4081 tgtgctcttt ttgaaaaaaa aaaattcttt agcgtaaaca tgaatttttt ttcaatgtag
     4141 cccctgggga atgaatgaaa ttttgagctt cttcaatacg taaaattaaa tttataccac
     4201 tgagggagag accctttctg aaagaagtat ggccaaaagc actttaatgc tgctgacatt
     4261 gttgttttta tgttcatttg ctggagcgca agacgtgctg acacagtgag ttttctctga
     4321 tgtatttaag gtgatgtatt tgcttgagtt actcctgtat cattgctcat aatattggaa
     4381 actaaaataa aacctagttg gaaatcc
//
