LOCUS       NM_001329990            3610 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens mitoguardin 2 (MIGA2), transcript variant 2, mRNA.
ACCESSION   NM_001329990 NM_001329988 XM_005252282
VERSION     NM_001329990.2
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 3610)
  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   2  (bases 1 to 3610)
  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   3  (bases 1 to 3610)
  AUTHORS   Di Mattia,T., Martinet,A., Ikhlef,S., McEwen,A.G., Nomine,Y.,
            Wendling,C., Poussin-Courmontagne,P., Voilquin,L., Eberling,P.,
            Ruffenach,F., Cavarelli,J., Slee,J., Levine,T.P., Drin,G.,
            Tomasetto,C. and Alpy,F.
  TITLE     FFAT motif phosphorylation controls formation and lipid transfer
            function of inter-organelle contacts
  JOURNAL   EMBO J 39 (23), e104369 (2020)
   PUBMED   33124732
REFERENCE   4  (bases 1 to 3610)
  AUTHORS   Liu,X.M., Zhang,Y.P., Ji,S.Y., Li,B.T., Tian,X., Li,D., Tong,C. and
            Fan,H.Y.
  TITLE     Mitoguardin-1 and -2 promote maturation and the developmental
            potential of mouse oocytes by maintaining mitochondrial dynamics
            and functions
  JOURNAL   Oncotarget 7 (2), 1155-1167 (2016)
   PUBMED   26716412
REFERENCE   5  (bases 1 to 3610)
  AUTHORS   Zhang,Y., Liu,X., Bai,J., Tian,X., Zhao,X., Liu,W., Duan,X.,
            Shang,W., Fan,H.Y. and Tong,C.
  TITLE     Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is
            Required for Neuronal Homeostasis
  JOURNAL   Mol Cell 61 (1), 111-124 (2016)
   PUBMED   26711011
  REMARK    GeneRIF: Propose that MIGA1/2 proteins promote mitochondrial fusion
            by regulating mitochondrial phospholipid metabolism via MitoPLD.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592211.27.
            
            On Jun 2, 2019 this sequence version replaced NM_001329990.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2) is
            shorter at the N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1653076.1,
                                           SRR7346977.1885578.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684074.1/ ENSP00000506871.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AL592211.27        42369-42424
            57-295              AL592211.27        46195-46433
            296-506             AL592211.27        48047-48257
            507-619             AL592211.27        54170-54282
            620-737             AL592211.27        55124-55241
            738-874             AL592211.27        55570-55706
            875-992             AL592211.27        64897-65014
            993-1093            AL592211.27        66293-66393
            1094-1209           AL592211.27        66974-67089
            1210-1282           AL592211.27        68987-69059
            1283-1369           AL592211.27        69288-69374
            1370-1468           AL592211.27        73516-73614
            1469-1603           AL592211.27        73941-74075
            1604-1657           AL592211.27        74819-74872
            1658-1774           AL592211.27        75592-75708
            1775-3610           AL592211.27        75990-77825
FEATURES             Location/Qualifiers
     source          1..3610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3610
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /note="mitoguardin 2"
                     /db_xref="GeneID:84895"
                     /db_xref="HGNC:HGNC:23621"
                     /db_xref="MIM:616774"
     exon            1..56
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            57..295
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..1981
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein FAM73B; family with sequence similarity 73, member
                     B"
                     /codon_start=1
                     /product="mitoguardin 2 isoform 2"
                     /protein_id="NP_001316919.1"
                     /db_xref="CCDS:CCDS6917.1"
                     /db_xref="GeneID:84895"
                     /db_xref="HGNC:HGNC:23621"
                     /db_xref="MIM:616774"
                     /translation="MAFRRAEGTSMIQALAMTVAEIPVFLYTTFGQSAFSQLRLTPGL
                     RKVLFATALGTVALALAAHQLKRRRRRKKQVGPEMGGEQLGTVPLPILLARKVPSVKK
                     GYSSRRVQSPSSKSNDTLSGISSIEPSKHSGSSHSVASMMAVNSSSPTAACSGLWDAR
                     GMEESLTTSDGNAESLYMQGMELFEEALQKWEQALSVGQRGDSGSTPMPRDGLRNPET
                     ASEPLSEPESQRKEFAEKLESLLHRAYHLQEEFGSTFPADSMLLDLERTLMLPLTEGS
                     LRLRADDEDSLTSEDSFFSATELFESLQTGDYPIPLSRPAAAYEEALQLVKEGRVPCR
                     TLRTELLGCYSDQDFLAKLHCVRQAFEGLLEDKSNQLFFGKVGRQMVTGLMTKAEKSP
                     KGFLESYEEMLSYALRPETWATTRLELEGRGVVCMSFFDIVLDFILMDAFEDLENPPA
                     SVLAVLRNRWLSDSFKETALATACWSVLKAKRRLLMVPDGFISHFYSVSEHVSPVLAF
                     GFLGPKPQLAEVCAFFKHQIVQYLRDMFDLDNVRYTSLPALADDILQLSRRRSEILLG
                     YLGVPAASSAGVNGALPRENGPLGELQ"
     exon            296..506
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            507..619
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            620..737
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            738..874
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            875..992
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1093
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1209
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1282
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1369
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1468
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1603
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1657
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1774
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..3610
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3583..3588
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /note="hexamer: AATAAA"
     polyA_site      3610
                     /gene="MIGA2"
                     /gene_synonym="C9orf54; FAM73B"
                     /note="major polyA site"
ORIGIN      
        1 ggttgcgcag ccgccgggga aggagacgct gcccttccgc agcgatggca tcccggctct
       61 gtggaggggc cctctggtat gtgtgtccct gtccttctgg ggcgtggatg gtgcctggga
      121 cccagctggc aaccagttga agacgttctc cttggaagct cttggccctg aggactttgc
      181 ctggggcatt ggccctgcca tggcgttccg gagggccgag ggcacgtcta tgatccaggc
      241 cctggccatg acggtggccg agatccccgt gttcctgtac acgacgtttg ggcagtctgc
      301 attctcccag ctacggttga cgccaggcct gcggaaagtc ctctttgcca cggccctggg
      361 gactgtggcc ctggccctgg ctgcccacca gctgaagagg cgacggagga ggaagaagca
      421 ggttggtccc gagatgggag gggagcagct gggcacggtg cccctcccta tcctcttggc
      481 caggaaggtc ccttcagtga agaaaggata ctccagccgg agagtccaga gccccagcag
      541 caagagcaac gacaccctga gtggcatctc ttccattgag cccagcaagc actcgggctc
      601 ctcccacagt gtggcctcga tgatggcagt gaactcatcc agccccacag ccgcgtgctc
      661 gggactatgg gatgccagag ggatggagga gtctctgacc accagcgacg gcaatgcaga
      721 gagcctgtac atgcaaggca tggagctgtt tgaggaagct ctgcagaagt gggagcaggc
      781 actaagcgtg ggccagcggg gggacagcgg cagcaccccc atgcccaggg acggcctccg
      841 gaacccagag actgcatcag agccactgtc tgagccagag tcacagcgga aggagtttgc
      901 agagaagctg gagtccctgc tgcaccgtgc ctaccacctg caggaggagt tcggctccac
      961 cttccccgca gacagcatgc tgctagacct cgagaggacc ctcatgctgc ccctgaccga
     1021 gggctcgctg cggctgcggg cggacgatga ggacagcctg acttcagagg attccttctt
     1081 ctccgccacc gagctctttg agtccctgca gactggagat tacccgatcc cactctccag
     1141 acccgccgct gcctatgagg aggccctgca gctggtgaag gaggggagag tgccttgccg
     1201 gaccctcagg acggagctgc tgggctgcta cagtgaccag gactttctgg ccaagctgca
     1261 ctgtgtgcgg caggccttcg aggggcttct ggaagacaag agtaaccagc ttttcttcgg
     1321 gaaagtgggc cgacagatgg tgacaggcct gatgaccaag gctgagaaga gccccaaagg
     1381 cttcctggag agctacgagg agatgctgag ctatgccctg cggcccgaga cctgggccac
     1441 aacacggctg gagctggagg gccgaggggt ggtatgcatg agcttcttcg acatcgtgct
     1501 ggacttcatc ctcatggacg ccttcgagga cctggagaac cctccggcct cggtgctcgc
     1561 cgtcctgcgg aaccgctggc tgtcagacag cttcaaggag acggccttgg ccactgcttg
     1621 ctggtcggtc ctgaaagcca agaggaggct gctgatggtg cctgatggct tcatctccca
     1681 tttctactcc gtatcggagc atgtgagccc tgtcctagcc ttcggcttcc ttggacccaa
     1741 gcctcagctt gctgaagtct gtgctttctt caagcaccag attgtgcagt acctgaggga
     1801 catgttcgac ctggacaatg tgcgctacac gtcactgccc gcgctggcag acgacatcct
     1861 gcagctgtcc cggcgccgca gcgagatatt gctggggtac ctgggggtgc ccgcggccag
     1921 cagcgcaggc gtgaatgggg cgctgccccg agagaatggg cccctggggg agctgcagta
     1981 gaggcggcac gggctggggg gtggcagaga gaaggctcct cctcccttcc ctgggttggt
     2041 atctgacagc tgtggtggct gagggccgtt gcccctgact ttgccccacc cccatcatct
     2101 gggagtcccc aaggcccaga ggggacattt ccatggagaa gaacggttcc tgggggaagc
     2161 agaggccagg accagtgggg cctgtgggag agaaaggctg tgagagaggg ggttgttgtg
     2221 gagaattggg acaggcagag ccaggatgcc ccaggtgggg gaccccaaaa cctcccatcg
     2281 ctccagggct gctgacaagg gtgctgggag ggtggaggtg aaggatgggg cctagagccc
     2341 tgtggtgaag gtcacagtgt cctgagctag aagccacctg tggctatatg gtctcagcat
     2401 ccagctggcc tgtcctgatg ccctccccac ctcaaccgcc ttctcagaga gtttgcaact
     2461 ccagagaagg agagtggggc caccttagtg ggcagcaggc ctgggccatc cagagatggg
     2521 gcagaggtgg gcctcccact cctgtgctct cttctgagca ggaactgggc ccttgacagt
     2581 gtcctttgac attccctcgc cctaccaaag atcgtctttt ctcctcccac ctctgtcacc
     2641 accaaagacg ggcggaggtg gggctgggcc ctcctgcccc cgcccatccc ccttccatga
     2701 gcccagacct ccctgggtgg tgctaggctc tgagctgggg gctcagacca gggatcgctc
     2761 aggcccctgt cacctgtggg cccggggacc acttggggga ggtcagagga tgtatgtggc
     2821 cggaccagct tccccacctt cattaggaca agaaactgcc cagcactttg ccttcagttc
     2881 aacgcacaaa cgctcctggg gcctcatggg ggcagagcct cccctgggcc tgcagagagt
     2941 cctgttagca gcgacgtccc cccgccgcgg ggtcctgtca gcccggcagt gtcttctcag
     3001 tgtcttcacc tgagcgagtg tctgtggccc caacgcgttc tgctgtggct ctgccctttc
     3061 caggttgaga ggcctgcagg agaaacacac tcccctcctg ggtttccaca ctcaggaggt
     3121 cagaggactg gctcctgtga ccagggcccc tctcccctga atgggaaagg ggtctgggga
     3181 tgggagggcg caccacagag aggagatgat gctgggtgtg gcccatcttc tgtgggcccc
     3241 ttcccagaca ccggatccat gggcactaac ccgcctccca ggctgatgcc cggaggcagc
     3301 ttcctgggca ggagggttcc atgggcacta acccacctcc caggctgatg cctggaggca
     3361 gcctccaggg caggaaggac cctgtgctcc ccgcccccca tcctgacatc ctgttctttt
     3421 gcacttaccc tgtgctgtga atgtaacagt gggccttggc cccgcccact ctgatttgca
     3481 ttttcatttg tgtttgttta cacatccatg cactgcctgt agcagtcgat tgtcacagct
     3541 tcgacttttg gatggtagag tgtgtgcact gactgtgagt cgaataaaca attgagacga
     3601 tttccttcca
//
