LOCUS       NM_025264               2205 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens THUMP domain 2 tRNA and snRNA guanosine
            methyltransferase (THUMPD2), transcript variant 1, mRNA.
ACCESSION   NM_025264
VERSION     NM_025264.5
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 2205)
  AUTHORS   Yang,W.Q., Ge,J.Y., Zhang,X., Zhu,W.Y., Lin,L., Shi,Y., Xu,B. and
            Liu,R.J.
  TITLE     THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome
            catalytic center and regulates pre-mRNA splicing and retinal
            degeneration
  JOURNAL   Nucleic Acids Res 52 (6), 3291-3309 (2024)
   PUBMED   38165050
  REMARK    GeneRIF: THUMPD2 catalyzes the N2-methylation of U6 snRNA of the
            spliceosome catalytic center and regulates pre-mRNA splicing and
            retinal degeneration.
REFERENCE   2  (bases 1 to 2205)
  AUTHORS   Wang,C., Ulryck,N., Herzel,L., Pythoud,N., Kleiber,N.,
            Guerineau,V., Jactel,V., Moritz,C., Bohnsack,M.T., Carapito,C.,
            Touboul,D., Bohnsack,K.E. and Graille,M.
  TITLE     N 2-methylguanosine modifications on human tRNAs and snRNA U6 are
            important for cell proliferation, protein translation and pre-mRNA
            splicing
  JOURNAL   Nucleic Acids Res 51 (14), 7496-7519 (2023)
   PUBMED   37283053
  REMARK    Erratum:[Nucleic Acids Res. 2024 Jul 22;52(13):8033. doi:
            10.1093/nar/gkae524.. PMID: 38888115]
REFERENCE   3  (bases 1 to 2205)
  AUTHORS   Brumele,B., Mutso,M., Telanne,L., Ounap,K., Spunde,K., Abroi,A. and
            Kurg,R.
  TITLE     Human TRMT112-Methyltransferase Network Consists of Seven Partners
            Interacting with a Common Co-Factor
  JOURNAL   Int J Mol Sci 22 (24), 13593 (2021)
   PUBMED   34948388
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2205)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2205)
  AUTHORS   Terracciano,A., Sanna,S., Uda,M., Deiana,B., Usala,G., Busonero,F.,
            Maschio,A., Scally,M., Patriciu,N., Chen,W.M., Distel,M.A.,
            Slagboom,E.P., Boomsma,D.I., Villafuerte,S., Sliwerska,E.,
            Burmeister,M., Amin,N., Janssens,A.C., van Duijn,C.M.,
            Schlessinger,D., Abecasis,G.R. and Costa,P.T. Jr.
  TITLE     Genome-wide association scan for five major dimensions of
            personality
  JOURNAL   Mol Psychiatry 15 (6), 647-656 (2010)
   PUBMED   18957941
REFERENCE   6  (bases 1 to 2205)
  AUTHORS   Zhang,Y., Gorry,M.C., Hart,P.S., Pettenati,M.J., Wang,L.,
            Marks,J.J., Lu,X. and Hart,T.C.
  TITLE     Localization, genomic organization, and alternative transcription
            of a novel human SAM-dependent methyltransferase gene on chromosome
            2p22-->p21
  JOURNAL   Cytogenet Cell Genet 95 (3-4), 146-152 (2001)
   PUBMED   12063391
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC379776.1, BC004163.2, AK226034.1 and AF380578.1.
            
            On Nov 23, 2018 this sequence version replaced NM_025264.4.
            
            Transcript Variant: This variant (1) encodes the functional protein
            (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ891427.1, BC013299.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000505747.6/ ENSP00000423933.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DC379776.1         19-39
            22-1738             BC004163.2         1-1717
            1739-1961           AK226034.1         1709-1931
            1962-2205           AF380578.1         2905-3148
FEATURES             Location/Qualifiers
     source          1..2205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.1"
     gene            1..2205
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="THUMP domain 2 tRNA and snRNA guanosine
                     methyltransferase"
                     /db_xref="GeneID:80745"
                     /db_xref="HGNC:HGNC:14890"
                     /db_xref="MIM:611751"
     exon            1..145
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1531
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     SAM-dependent methyltransferase; THUMP domain-containing
                     protein 2; epididymis secretory sperm binding protein;
                     THUMP domain containing 2"
                     /codon_start=1
                     /product="THUMP domain-containing protein 2 isoform 1"
                     /protein_id="NP_079540.2"
                     /db_xref="CCDS:CCDS1805.2"
                     /db_xref="GeneID:80745"
                     /db_xref="HGNC:HGNC:14890"
                     /db_xref="MIM:611751"
                     /translation="MSEARGEPGSGPEAGARFFCTAGRGLEPFVMREVRARLAATQVE
                     YISGKVFFTTCSDLNMLKKLKSAERLFLLIKKQFPLIISSVSKGKIFNEMQRLINEDP
                     GSWLNAISIWKNLLELDAKKEKLSQRDDNQLKRKVGENEIIAKKLKIEQMQKIEENRD
                     CQLEKQIKEETLEQRDFTTKSEKFQEEEFQNDIEKAIDTHNQNDLTFRVSCRCSGTIG
                     KAFTAQEVGKVIGIAIMKHFGWKADLRNPQLEIFIHLNDIYSVVGIPVFRVSLASRAY
                     IKTAGLRSTIAWAMASLADIKAGAFVLDPMCGLGTILLEAAKEWPDVYYVGADVSDSQ
                     LLGTWDNLKAAGLEDKIELLKISVIELPLPSESVDIIISDIPFGKKFKLGKDIKSILQ
                     EMERVLHVGGTIVLLLSEDHHRRLTDCKESNIPFNSKDSHTDEPGIKKCLNPEEKTGA
                     FKTASTSFEASNHKFLDRMSPFGSLVPVECYKVSLGKTDAFICKYKKSHSSGL"
     exon            146..281
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            282..691
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            692..769
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            770..822
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            823..910
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            911..982
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1097
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1206
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..2205
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1936..1941
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="hexamer: ATTAAA"
     polyA_site      1961
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="major polyA site"
     regulatory      2039..2044
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="hexamer: AATAAT"
     polyA_site      2074
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
     regulatory      2083..2088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="hexamer: AATGAA"
     polyA_site      2110
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
     regulatory      2182..2187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
                     /note="hexamer: AAGAAA"
     polyA_site      2205
                     /gene="THUMPD2"
                     /gene_synonym="C2orf8"
ORIGIN      
        1 agggcgcgcc tgagccgcca tgtcggaggc gcgtggagag ccagggtccg ggcctgaggc
       61 tggcgcccga ttcttctgca ctgcgggtcg cggcctggag ccgttcgtaa tgcgagaggt
      121 gcgggcgcgg ctggcggcca cgcaggttga atatatttca ggaaaggttt ttttcaccac
      181 ctgttctgat ttgaatatgt tgaagaaatt aaaatctgca gaaagattat ttttgctgat
      241 taaaaagcag tttccactta ttatttcttc tgtaagtaaa ggaaaaatat ttaatgaaat
      301 gcaaagactt ataaatgaag atccaggaag ttggttgaat gccatttcaa tttggaaaaa
      361 tcttcttgaa cttgatgcaa aaaaggaaaa actttctcag agagatgata accaactaaa
      421 aagaaaagtg ggagaaaatg aaatcattgc aaagaaatta aaaatagaac aaatgcaaaa
      481 gatagaagag aatagggact gccagctgga aaaacaaata aaagaagaaa ctctggagca
      541 aagagatttt accactaaaa gcgaaaagtt tcaagaagaa gaatttcaga atgacataga
      601 gaaagcaatt gatactcata atcagaatga cttgactttc agagtatctt gtcgctgcag
      661 tggaactatt ggaaaggcct tcactgcaca ggaggtagga aaagtaattg gaattgctat
      721 tatgaaacac tttggatgga aagcagactt gaggaatcca caattagaga tctttataca
      781 tctaaatgac atttactctg tggtggggat tcctgtgttc agggtttccc tagccagcag
      841 agcttacatc aagacagctg gactgcgatc tacaatagcg tgggcaatgg catctctggc
      901 tgacattaag gctggtgcat ttgttttaga tccaatgtgt ggacttggaa caatactttt
      961 ggaagctgct aaagaatggc cagatgtgta ttatgtaggt gctgatgtca gcgactcaca
     1021 gttactaggt acttgggaca atctgaaagc tgcaggcctt gaggataaaa ttgaattact
     1081 taaaatctct gttatagaat tgccattgcc ttcagaaagt gttgatatta ttatttctga
     1141 cattccattt gggaaaaagt ttaagttagg aaaagacatc aaaagcattc tacaagaaat
     1201 ggaaagagtg cttcatgttg gcggaaccat tgtattgttg cttagtgaag atcaccacag
     1261 gcgccttaca gattgtaaag agagcaacat ccctttcaat tccaaggaca gtcacacaga
     1321 tgaacctgga attaaaaagt gcttgaatcc tgaagaaaaa actggtgcat tcaagacagc
     1381 gtcaacttca ttcgaagcca gtaaccacaa attcttagac agaatgtcac catttggctc
     1441 cttggtacca gtggaatgct acaaagttag ccttggaaag acagatgcgt tcatatgtaa
     1501 atataagaag tcgcactctt ctggactgta gcaggcttgc tgccatcagc cgggttcagg
     1561 cccttgtaag ttagctgtac agcagaagtt tgctgtctct aggattcata tagcacccac
     1621 agagctccaa gtaaccaaat tcccccaaag acaggaggtg tggctgatgg gtacacatgc
     1681 ttggtaagag tttctgcttt atattctaaa gtacttaatg tttttgagaa aaaagttatc
     1741 gaatattttt tagacttaag ttttatcttc tgtcagaatg tgaaaagttc tgcccagttt
     1801 ctgagcaaaa acttcaattt caaaataaag gttttcaggg gttcacttaa gtgtatcaca
     1861 atcaacacca gacgggatat tttaactatc agattttcgg aaatgtaaaa acctttatgt
     1921 gtaacttctt ttgatattaa acttgatttt tgagcctgta attttcttct ccattggaat
     1981 gaaaataatt tgtatttgca atacatttta tatgtttatt atgtaaacca acagtgagaa
     2041 taataactga attaagccag tatccttcaa aacatgatgg aaaatgaaat ttgctttttt
     2101 tctaaaagca ttcatacact gtcacctcgc ccttatttat atagaaagtc agtttgttgc
     2161 ttatgttcac tacctgagaa aaagaaacag taagtttgag gagaa
//
