LOCUS       NM_199047               1368 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens TATA-box binding protein like 2 (TBPL2), mRNA.
ACCESSION   NM_199047
VERSION     NM_199047.3
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 1368)
  AUTHORS   Wang,Y., Xiang,M., Yu,Z., Hao,Y., Xu,Q., Kong,S., Wang,F., Shi,X.,
            Song,G., Cao,Y., Huang,L. and Zhu,F.
  TITLE     A homozygous missense mutation in TBPL2 is associated with oocyte
            maturation arrest and degeneration
  JOURNAL   Clin Genet 100 (3), 324-328 (2021)
   PUBMED   33966269
  REMARK    GeneRIF: A homozygous missense mutation in TBPL2 is associated with
            oocyte maturation arrest and degeneration.
REFERENCE   2  (bases 1 to 1368)
  AUTHORS   He,W.B., Zhang,Y.X., Tan,C., Meng,L.L., Liu,G., Li,Y., Gong,F.,
            Wu,B.L., Lu,G.X., Lin,G., Du,J. and Tan,Y.Q.
  TITLE     A recurrent mutation in TBPL2 causes diminished ovarian reserve and
            female infertility
  JOURNAL   J Genet Genomics 47 (12), 785-788 (2020)
   PUBMED   33541821
  REMARK    GeneRIF: A recurrent mutation in TBPL2 causes diminished ovarian
            reserve and female infertility.
REFERENCE   3  (bases 1 to 1368)
  AUTHORS   Liang,H., Zhang,P., Bai,H.J., Huang,J. and Yang,H.T.
  TITLE     TATA box-binding protein-related factor 3 drives the mesendoderm
            specification of human embryonic stem cells by globally interacting
            with the TATA box of key mesendodermal genes
  JOURNAL   Stem Cell Res Ther 11 (1), 196 (2020)
   PUBMED   32448362
  REMARK    GeneRIF: TATA box-binding protein-related factor 3 drives the
            mesendoderm specification of human embryonic stem cells by globally
            interacting with the TATA box of key mesendodermal genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1368)
  AUTHORS   Wang,C., Cao,J., Xing,Y., Pu,D., Liu,J. and Wu,J.
  TITLE     TBP2 gene may not be associated with primary ovarian insufficiency
  JOURNAL   Climacteric 19 (6), 565-567 (2016)
   PUBMED   27642674
  REMARK    GeneRIF: study indicates that the TBP2 gene is not responsible for
            idiopathic primary ovarian insufficiency in the Chinese Han
            population
REFERENCE   5  (bases 1 to 1368)
  AUTHORS   Deato,M.D. and Tjian,R.
  TITLE     Switching of the core transcription machinery during myogenesis
  JOURNAL   Genes Dev 21 (17), 2137-2149 (2007)
   PUBMED   17704303
  REMARK    GeneRIF: Here we report that differentiation of myoblast to
            myotubes involves the disruption of the canonical holo-TFIID and
            replacement by a novel TRF3/TAF3 (TBP-related factor 3/TATA-binding
            protein-associated factor 3) complex.
REFERENCE   6  (bases 1 to 1368)
  AUTHORS   Di Pietro,C., Ragusa,M., Duro,L., Guglielmino,M.R., Barbagallo,D.,
            Carnemolla,A., Lagana,A., Buffa,P., Angelica,R., Rinaldi,A.,
            Calafato,M.S., Milicia,I., Caserta,C., Giugno,R., Pulvirenti,A.,
            Giunta,V., Rapisarda,A., Di Pietro,V., Grillo,A., Messina,A.,
            Ferro,A., Grzeschik,K.H. and Purrello,M.
  TITLE     Genomics, evolution, and expression of TBPL2, a member of the TBP
            family
  JOURNAL   DNA Cell Biol 26 (6), 369-385 (2007)
   PUBMED   17570761
REFERENCE   7  (bases 1 to 1368)
  AUTHORS   Persengiev,S.P., Zhu,X., Dixit,B.L., Maston,G.A., Kittler,E.L. and
            Green,M.R.
  TITLE     TRF3, a TATA-box-binding protein-related factor, is
            vertebrate-specific and widely expressed
  JOURNAL   Proc Natl Acad Sci U S A 100 (25), 14887-14891 (2003)
   PUBMED   14634207
  REMARK    GeneRIF: TRF3 is a nuclear protein that is present in all human and
            mouse tissues and cell lines examined
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356801.5.
            
            On Jun 3, 2021 this sequence version replaced NM_199047.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC117159.1, DQ448593.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000247219.6/
                                                ENSP00000247219.6
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-221               AL356801.5         72888-73108
            222-679             AL356801.5         76486-76943
            680-767             AL356801.5         77570-77657
            768-859             AL356801.5         79783-79874
            860-1027            AL356801.5         84530-84697
            1028-1122           AL356801.5         89251-89345
            1123-1368           AL356801.5         99049-99294
FEATURES             Location/Qualifiers
     source          1..1368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.3"
     gene            1..1368
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /note="TATA-box binding protein like 2"
                     /db_xref="GeneID:387332"
                     /db_xref="HGNC:HGNC:19841"
                     /db_xref="MIM:608964"
     exon            1..221
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1199
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /note="TBP-related factor 3; TATA box-binding protein-like
                     protein 2; TBP-like protein 2; TATA box-binding
                     protein-related factor 3; TBP-like 2"
                     /codon_start=1
                     /product="TATA box-binding protein-like 2"
                     /protein_id="NP_950248.2"
                     /db_xref="CCDS:CCDS9724.2"
                     /db_xref="GeneID:387332"
                     /db_xref="HGNC:HGNC:19841"
                     /db_xref="MIM:608964"
                     /translation="MEQEETYLELYLDQCAAQDGLAPPRSPLFSPVVPYDMYILNASN
                     PDTAFNSNPEVKETSGDFSSVDLSFLPDEVTQENKDQPVISKHETEENSESQSPQSRL
                     PSPSEQDVGLGLNSSSLSNSHSQLHPGDTDSVQPSPEKPNSDSLSLASITPMTPMTPI
                     SECCGIVPQLQNIVSTVNLACKLDLKKIALHAKNAEYNPKRFAAVIMRIREPRTTALI
                     FSSGKMVCTGAKSEEQSRLAARKYARVVQKLGFPARFLDFKIQNMVGSCDVRFPIRLE
                     GLVLTHQQFSSYEPELFPGLIYRMVKPRIVLLIFVSGKVVLTGAKERSEIYEAFENIY
                     PILKGFKKA"
     exon            222..679
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
     exon            680..767
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
     exon            768..859
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
     exon            860..1027
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1122
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1368
                     /gene="TBPL2"
                     /gene_synonym="TBP2; TRF3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 acgcttctct cgcgccctct gcaggaacct gggccgaggg ccgccccgcc tcgctgcccc
       61 caggctcata aatggcctct gcgccctggc cggagcgggt tccgaggctg ctcgctccgc
      121 gcttaccctc ttacccgccc ccacccccaa cagtgggatt acggtccatg gagcaggagg
      181 agacctacct ggagctctac ctggaccagt gcgccgctca ggatggcctt gccccaccca
      241 ggtctcccct gttcagccca gttgtacctt atgatatgta catactgaat gcatccaatc
      301 cggatactgc atttaattcg aaccctgaag tcaaagaaac atctggtgat ttctcatctg
      361 tggatcttag cttcctacca gatgaagtta cccaggaaaa taaagaccag cctgtcatta
      421 gcaaacacga aactgaagaa aattctgaaa gccaaagtcc acaaagtagg ttgccatcac
      481 ccagcgaaca ggacgttggg ctgggcttaa acagcagcag tttgtcaaat tcccattcac
      541 agctgcaccc tggtgatact gactcagtcc agccctctcc tgagaaacca aactccgact
      601 ccttgtctct ggcatccata actcccatga caccaatgac ccctatttca gaatgttgtg
      661 gaattgtacc tcaactacag aatatagttt ccactgtaaa cctggcctgt aagttggatc
      721 tgaagaaaat agctttgcat gcaaaaaatg cagaatataa cccaaagagg tttgctgctg
      781 tcataatgag gatccgagag cccaggacaa cagcccttat atttagctct gggaagatgg
      841 tctgcacggg agccaaaagt gaagagcagt ctcgacttgc agcaagaaaa tatgctcgtg
      901 tggtgcagaa gcttgggttc cctgccagat tcctcgattt taaaattcag aacatggttg
      961 gaagctgtga tgtgagattt cccatcaggc tggaaggttt ggtgctaacc catcagcagt
     1021 tcagtagtta cgagcctgaa ctgtttcctg gtcttattta tagaatggta aaaccacgaa
     1081 ttgtgttgct tatctttgta tctggaaaag ttgtgttgac aggtgccaaa gaacgttctg
     1141 agatctatga agcatttgaa aacatctatc ctattctaaa aggttttaaa aaagcctgag
     1201 catatcattc agcatctcac attattctgg tttgaatatg tccataagcc cagcacagaa
     1261 acagctggat tcttctacgt ttaattgtag atgttacaag tacgttactt attaaagggc
     1321 gactctgtgt aagtaaccta agaaacgaag aaaaattctt attcaaaa
//
