LOCUS       NM_181872               2428 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens doublesex and mab-3 related transcription factor 2
            (DMRT2), transcript variant 3, mRNA.
ACCESSION   NM_181872
VERSION     NM_181872.6
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 2428)
  AUTHORS   Sui,J.D., Tang,Z., Chen,B.P.C., Huang,P., Yang,M.Q., Wang,N.H.,
            Yang,H.N., Tu,H.L., Jiang,Q.M., Zhang,J., Wang,Y. and Wu,Y.Z.
  TITLE     Protein Phosphatase 2A-Dependent Mitotic hnRNPA1 Dephosphorylation
            and TERRA Formation Facilitate Telomere Capping
  JOURNAL   Mol Cancer Res 20 (4), 583-595 (2022)
   PUBMED   34933911
  REMARK    GeneRIF: Protein Phosphatase 2A-Dependent Mitotic hnRNPA1
            Dephosphorylation and TERRA Formation Facilitate Telomere Capping.
REFERENCE   2  (bases 1 to 2428)
  AUTHORS   Nie,X., Xiao,D., Ge,Y., Xie,Y., Zhou,H., Zheng,T., Li,X., Liu,H.,
            Huang,H. and Zhao,Y.
  TITLE     TRF2 recruits nucleolar protein TCOF1 to coordinate telomere
            transcription and replication
  JOURNAL   Cell Death Differ 28 (3), 1062-1075 (2021)
   PUBMED   33082515
  REMARK    GeneRIF: TRF2 recruits nucleolar protein TCOF1 to coordinate
            telomere transcription and replication.
REFERENCE   3  (bases 1 to 2428)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2428)
  AUTHORS   Aschacher,T., Wolf,B., Aschacher,O., Enzmann,F., Laszlo,V.,
            Messner,B., Turkcan,A., Weis,S., Spiegl-Kreinecker,S., Holzmann,K.,
            Laufer,G., Ehrlich,M. and Bergmann,M.
  TITLE     Long interspersed element-1 ribonucleoprotein particles protect
            telomeric ends in alternative lengthening of telomeres dependent
            cells
  JOURNAL   Neoplasia 22 (2), 61-75 (2020)
   PUBMED   31846834
  REMARK    GeneRIF: Long interspersed element-1 ribonucleoprotein particles
            protect telomeric ends in alternative lengthening of telomeres
            dependent cells.
REFERENCE   5  (bases 1 to 2428)
  AUTHORS   Feretzaki,M., Renck Nunes,P. and Lingner,J.
  TITLE     Expression and differential regulation of human TERRA at several
            chromosome ends
  JOURNAL   RNA 25 (11), 1470-1480 (2019)
   PUBMED   31350341
  REMARK    GeneRIF: study confirms that TERRA corresponds to a large gene
            family transcribed from multiple chromosome ends where we
            identified two types of TERRA promoters, only one of which is
            regulated by DNA methylation
REFERENCE   6  (bases 1 to 2428)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 2428)
  AUTHORS   Lasky-Su,J., Neale,B.M., Franke,B., Anney,R.J., Zhou,K.,
            Maller,J.B., Vasquez,A.A., Chen,W., Asherson,P., Buitelaar,J.,
            Banaschewski,T., Ebstein,R., Gill,M., Miranda,A., Mulas,F.,
            Oades,R.D., Roeyers,H., Rothenberger,A., Sergeant,J.,
            Sonuga-Barke,E., Steinhausen,H.C., Taylor,E., Daly,M., Laird,N.,
            Lange,C. and Faraone,S.V.
  TITLE     Genome-wide association scan of quantitative traits for attention
            deficit hyperactivity disorder identifies novel associations and
            confirms candidate gene associations
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1345-1354 (2008)
   PUBMED   18821565
REFERENCE   8  (bases 1 to 2428)
  AUTHORS   Calvari,V., Bertini,V., De Grandi,A., Peverali,G., Zuffardi,O.,
            Ferguson-Smith,M., Knudtzon,J., Camerino,G., Borsani,G. and
            Guioli,S.
  TITLE     A new submicroscopic deletion that refines the 9p region for sex
            reversal
  JOURNAL   Genomics 65 (3), 203-212 (2000)
   PUBMED   10857744
REFERENCE   9  (bases 1 to 2428)
  AUTHORS   Ottolenghi,C., Veitia,R., Barbieri,M., Fellous,M. and McElreavey,K.
  TITLE     The human doublesex-related gene, DMRT2, is homologous to a gene
            involved in somitogenesis and encodes a potential bicistronic
            transcript
  JOURNAL   Genomics 64 (2), 179-186 (2000)
   PUBMED   10729224
REFERENCE   10 (bases 1 to 2428)
  AUTHORS   Raymond,C.S., Parker,E.D., Kettlewell,J.R., Brown,L.G., Page,D.C.,
            Kusz,K., Jaruzelska,J., Reinberg,Y., Flejter,W.L., Bardwell,V.J.,
            Hirsch,B. and Zarkower,D.
  TITLE     A region of human chromosome 9p required for testis development
            contains two genes related to known sexual regulators
  JOURNAL   Hum Mol Genet 8 (6), 989-996 (1999)
   PUBMED   10332030
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL358976.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 27, 2019 this sequence version replaced NM_181872.5.
            
            Summary: The protein encoded by this gene belongs to the DMRT gene
            family, sharing a DM DNA-binding domain with Drosophila 'doublesex'
            (dsx) and C. elegans mab3, genes involved in sex determination in
            these organisms. Also, this gene is located in a region of the
            human genome (chromosome 9p24.3) associated with gonadal dysgenesis
            and XY sex reversal. Hence this gene is one of the candidates for
            sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010].
            
            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 :: SRR14038196.1352117.1,
                                           SRR14038194.1026115.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358146.7/ ENSP00000350865.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-419               AL358976.11        49305-49723
            420-988             AL358976.11        50518-51086
            989-1091            AL358976.11        52670-52772
            1092-2428           AL358976.11        55164-56500
FEATURES             Location/Qualifiers
     source          1..2428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     gene            1..2428
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /note="doublesex and mab-3 related transcription factor 2"
                     /db_xref="GeneID:10655"
                     /db_xref="HGNC:HGNC:2935"
                     /db_xref="MIM:604935"
     exon            1..419
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            420..988
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             464..2149
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /note="isoform 2 is encoded by transcript variant 3;
                     terra-like protein; doublesex-like 2 protein"
                     /codon_start=1
                     /product="doublesex- and mab-3-related transcription
                     factor 2 isoform 2"
                     /protein_id="NP_870987.2"
                     /db_xref="CCDS:CCDS6444.1"
                     /db_xref="GeneID:10655"
                     /db_xref="HGNC:HGNC:2935"
                     /db_xref="MIM:604935"
                     /translation="MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADG
                     DCEDDEDDDGVDEDAEEEGDGEEAGASPGMPGQPEQRGGPQPRPPLAPQASPAGTGPR
                     ERCTPAGGGAEPRKLSRTPKCARCRNHGVVSCLKGHKRFCRWRDCQCANCLLVVERQR
                     VMAAQVALRRQQATEDKKGLSGKQNNFERKAVYQRQVRAPSLLAKSILEGYRPIPAET
                     YVGGTFPLPPPVSDRMRKRRAFADKELENIMLEREYKEREMLETSQAAALFLPNRMVP
                     GPDYNSYKSAYSPSPVEPPSKDFCNFLPTCLDLTMQYSGSGNMELISSNVSVATTYRQ
                     YPLSSRFLVWPKCGPISDTLLYQQCLLNATTSVQALKPGASWDLKGARVQDGLSAEQD
                     MMPSKLEGSLVLPHTPEIQTTRSDLQGHQAVPERSAFSPPRRNFSPIVDTDSLAAQGH
                     VLTKISKENTRHPLPLRHNPFHSLFQQTLTDKSGPELKTPFVKEAFEETPKKHRECLV
                     KDNQKYTFTIDRCAKDLFVAKQVGTKLSVNEPLSFSVESILKRPSSAITRVSQ"
     exon            989..1091
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..2428
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2396..2401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /note="hexamer: AATAAA"
     polyA_site      2428
                     /gene="DMRT2"
                     /gene_synonym="DSXL-2"
                     /note="major polyA site"
ORIGIN      
        1 agtggcgctg cgctgaatgc aactgcgcgc gcccgccggg tgagccagcg atctgagcca
       61 ggcgggggcg gcccgacctt tcccgcccag cctgggtcag aggaagccga aagcggcctc
      121 agcaaggtga ggcgcccgag gctgcagaag accgagcaga actttgcaga gttcgggatg
      181 tgctgggcta ggtcgctgag gacttgactg gcttcctccc tccttccctc cacctacctt
      241 ctccctcccc ctccaccatc cagtgggttc gttccgggcc tccagctatc agctcccgat
      301 ctcgtgtttg agggtagcga ccccgatttc tgtttgcatg cacagccagc agccctagcg
      361 ccagatccta aagctggata tcttttaact gggctaccag cccgggcctc aaagttttga
      421 gtgagggccg ccaggctcag gccccagcga agccccgagc gccatggccg acccgcaggc
      481 tggctccgcg gccggggact gggagatcga tgtcgagagc ctggagctgg aagaggacgt
      541 ctgcggggcg ccgcggtcca cgccccccgg gcccagcccg ccgccggcgg acggggactg
      601 cgaggacgac gaagatgacg acggggtgga cgaagacgcg gaagaagagg gcgacggcga
      661 ggaggcaggc gcgtcccccg ggatgcccgg ccagccggag cagcgggggg gaccgcagcc
      721 gaggccgccg ctcgcgcctc aggcctcacc cgccggcacc ggtccccgag agcgctgcac
      781 tcccgcgggc ggcggcgcgg agccgcgcaa gctgagccgc acgcccaagt gcgcgcgctg
      841 ccgcaaccac ggcgtggtgt cctgcctgaa gggccacaag cgcttctgtc gctggcgcga
      901 ctgccagtgc gccaactgcc tgctggtggt ggagcggcag cgcgtcatgg ccgcccaggt
      961 ggcgctccgg aggcagcagg ccaccgagga caagaagggg ctttccggga aacagaataa
     1021 tttcgagcgc aaagctgtgt accagaggca agtcagagcc cccagtttgc tggccaaaag
     1081 cattttagaa ggctatcgcc ccattccagc ggagacttat gtaggaggga ccttccctct
     1141 acctccccca gttagtgaca ggatgaggaa aagaagagcc tttgctgata aagagttgga
     1201 gaacattatg ctggagagag aatataaaga aagggagatg ttggaaactt ctcaagctgc
     1261 tgctctgttt ctgcccaacc gcatggtgcc tggacctgac tacaattcct acaaaagtgc
     1321 ctacagcccc agcccagtgg aaccaccaag caaggacttc tgtaattttt tgcccacctg
     1381 ccttgattta accatgcagt attcagggtc tgggaatatg gaactaattt cttctaatgt
     1441 cagcgtggcc acaacttata gacagtatcc cttgtcctca agatttttag tttggcccaa
     1501 gtgtggcccc attagcgaca ccctcctcta ccagcaatgc ctgctaaatg ccaccacctc
     1561 agttcaagcc ctgaagcctg gggccagctg ggacttgaag ggagcacgag tccaggatgg
     1621 actcagtgca gagcaggaca tgatgccatc gaaattggaa ggttccctgg tgctgcctca
     1681 cactcctgag atccagacca cgagaagtga ccttcagggt catcaggctg tcccagagag
     1741 gtccgcgttc tccccacccc gacggaattt ctctcccatt gttgacacgg actccctggc
     1801 agctcaaggg catgtcttaa cgaagatcag caaagaaaac accaggcacc ctctgccact
     1861 tagacataat ccattccact cattattcca gcaaacactt actgacaaat cgggtcctga
     1921 gttgaaaaca ccatttgtca aagaggcctt tgaagagacc cctaagaaac acagagagtg
     1981 tttagttaag gacaaccaga agtacacatt tacaatagat agatgtgcaa aagacctttt
     2041 tgtagccaaa caagttggaa caaaactctc ggtgaatgaa ccactgtcat tttctgttga
     2101 gtctattctt aagaggcctt catctgccat cactcgtgtc tctcagtgaa aggctgctta
     2161 aacagaaagc tggattttct gcagtcttag agcattatag ccatttgcta ctttttttaa
     2221 aagttaagat gtttgtgtaa agaaatttct aatgtaaaga tgatgatttt gaaaaatttt
     2281 atatattcct aatatgcatg tactttttct tatcacatat atttaaactt acagatggaa
     2341 attgcccaat gtgcaaattg ttaagtacca cactttacac agcatttcaa aaagcaataa
     2401 aattgacact gtcttctcaa agacccaa
//
