LOCUS       NM_005187               4480 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens CBFA2/RUNX1 partner transcriptional co-repressor 3
            (CBFA2T3), transcript variant 1, mRNA.
ACCESSION   NM_005187
VERSION     NM_005187.6
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 4480)
  AUTHORS   Tauziede-Espariat,A., Lew-Derivry,L., Abbou,S., Metais,A.,
            Pierron,G., Reynaud,S., Masliah-Planchon,J., Mariet,C., Hasty,L.,
            Dangouloff-Ros,V., Boddaert,N., Csanyi,M., Aline-Fardin,A.,
            Lamaison,C., Chretien,F., Beccaria,K., Puget,S. and Varlet,P.
  TITLE     CNS erythroblastic sarcoma: a potential emerging pediatric tumor
            type characterized by NFIA::RUNX1T1/3 fusions
  JOURNAL   Acta Neuropathol Commun 12 (1), 12 (2024)
   PUBMED   38243303
  REMARK    GeneRIF: CNS erythroblastic sarcoma: a potential emerging pediatric
            tumor type characterized by NFIA::RUNX1T1/3 fusions.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4480)
  AUTHORS   Guo,X., Plank-Bazinet,J., Krivega,I., Dale,R.K. and Dean,A.
  TITLE     Embryonic erythropoiesis and hemoglobin switching require
            transcriptional repressor ETO2 to modulate chromatin organization
  JOURNAL   Nucleic Acids Res 48 (18), 10226-10240 (2020)
   PUBMED   32960220
  REMARK    GeneRIF: Embryonic erythropoiesis and hemoglobin switching require
            transcriptional repressor ETO2 to modulate chromatin organization.
REFERENCE   3  (bases 1 to 4480)
  AUTHORS   Steinauer,N., Guo,C. and Zhang,J.
  TITLE     The transcriptional corepressor CBFA2T3 inhibits all-trans-retinoic
            acid-induced myeloid gene expression and differentiation in acute
            myeloid leukemia
  JOURNAL   J Biol Chem 295 (27), 8887-8900 (2020)
   PUBMED   32434928
  REMARK    GeneRIF: The transcriptional corepressor CBFA2T3 inhibits
            all-trans-retinoic acid-induced myeloid gene expression and
            differentiation in acute myeloid leukemia.
REFERENCE   4  (bases 1 to 4480)
  AUTHORS   Dou,K.X., Zhang,C., Tan,C.C., Xu,W., Li,J.Q., Cao,X.P., Tan,L. and
            Yu,J.T.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI)
  TITLE     Genome-wide association study identifies CBFA2T3 affecting the rate
            of CSF Abeta42 decline in non-demented elders
  JOURNAL   Aging (Albany NY) 11 (15), 5433-5444 (2019)
   PUBMED   31370031
  REMARK    GeneRIF: These findings suggest rs13333659 in CBFA2T3 as a risk
            locus to modulate the decline rate of cerebrospinal fluid
            amyloid-beta42 peptide preceding the onset of clinical symptoms
REFERENCE   5  (bases 1 to 4480)
  AUTHORS   Steinauer,N., Guo,C., Huang,C., Wong,M., Tu,Y., Freter,C.E. and
            Zhang,J.
  TITLE     Myeloid translocation gene CBFA2T3 directs a relapse gene program
            and determines patient-specific outcomes in AML
  JOURNAL   Blood Adv 3 (9), 1379-1393 (2019)
   PUBMED   31040112
  REMARK    GeneRIF: CBFA2T3 is functional in t(8;21) acute myeloid leukemia
            cells, a possible RUNX1-RUNX1T1-mediated direct interference of
            CBFA2T3 corepressor function may be compensated by a higher
            threshold level of CBFA2T3 expression that is needed to drive the
            relapse of t(8;21) acute myeloid leukemia.
REFERENCE   6  (bases 1 to 4480)
  AUTHORS   Schillace,R.V., Andrews,S.F., Liberty,G.A., Davey,M.P. and
            Carr,D.W.
  TITLE     Identification and characterization of myeloid translocation gene
            16b as a novel a kinase anchoring protein in T lymphocytes
  JOURNAL   J Immunol 168 (4), 1590-1599 (2002)
   PUBMED   11823486
REFERENCE   7  (bases 1 to 4480)
  AUTHORS   Kondoh,K., Nakata,Y., Furuta,T., Hosoda,F., Gamou,T., Kurosawa,Y.,
            Kinoshita,A., Ohki,M., Tomita,Y. and Mori,T.
  TITLE     A pediatric case of secondary leukemia associated with
            t(16;21)(q24;q22) exhibiting the chimeric AML1-MTG16 gene
  JOURNAL   Leuk Lymphoma 43 (2), 415-420 (2002)
   PUBMED   11999578
  REMARK    GeneRIF: In the first pediatric leukemia case in whom AML1-MTG16
            was identified, the breakpoint of MTG16 was determined, and
            suggested as a possible characteristic of secondary leukemia.
REFERENCE   8  (bases 1 to 4480)
  AUTHORS   Calabi,F. and Cilli,V.
  TITLE     CBFA2T1, a gene rearranged in human leukemia, is a member of a
            multigene family
  JOURNAL   Genomics 52 (3), 332-341 (1998)
   PUBMED   9790752
REFERENCE   9  (bases 1 to 4480)
  AUTHORS   Gamou,T., Kitamura,E., Hosoda,F., Shimizu,K., Shinohara,K.,
            Hayashi,Y., Nagase,T., Yokoyama,Y. and Ohki,M.
  TITLE     The partner gene of AML1 in t(16;21) myeloid malignancies is a
            novel member of the MTG8(ETO) family
  JOURNAL   Blood 91 (11), 4028-4037 (1998)
   PUBMED   9596646
REFERENCE   10 (bases 1 to 4480)
  AUTHORS   Kitabayashi,I., Ida,K., Morohoshi,F., Yokoyama,A., Mitsuhashi,N.,
            Shimizu,K., Nomura,N., Hayashi,Y. and Ohki,M.
  TITLE     The AML1-MTG8 leukemic fusion protein forms a complex with a novel
            member of the MTG8(ETO/CDR) family, MTGR1
  JOURNAL   Mol Cell Biol 18 (2), 846-858 (1998)
   PUBMED   9447981
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092384.5, BP282804.1 and
            BC047019.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005187.5.
            
            Summary: This gene encodes a member of the myeloid translocation
            gene family which interact with DNA-bound transcription factors and
            recruit a range of corepressors to facilitate transcriptional
            repression. The t(16;21)(q24;q22) translocation is one of the less
            common karyotypic abnormalities in acute myeloid leukemia. The
            translocation produces a chimeric gene made up of the 5'-region of
            the runt-related transcription factor 1 gene fused to the 3'-region
            of this gene. This gene is also a putative breast tumor suppressor.
            Alternative splicing results in transcript variants. [provided by
            RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript, encodes the longer isoform (1) and is also known as
            MTG16a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AB010419.1, BC047019.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268679.9/ ENSP00000268679.4
            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
            1-111               AC092384.5         209857-209967       c
            112-261             BP282804.1         1-150
            262-1090            BC047019.1         1-829
            1091-1091           AC092384.5         124662-124662       c
            1092-3104           BC047019.1         831-2843
            3105-4480           AC092384.5         107618-108993       c
FEATURES             Location/Qualifiers
     source          1..4480
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..4480
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /note="CBFA2/RUNX1 partner transcriptional co-repressor 3"
                     /db_xref="GeneID:863"
                     /db_xref="HGNC:HGNC:1537"
                     /db_xref="MIM:603870"
     exon            1..551
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     CDS             401..2362
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     myeloid translocation gene 8 and 16b; MTG8-related gene 2;
                     zinc finger MYND domain-containing protein 4; MTG8-related
                     protein 2; myeloid translocation gene on chromosome 16
                     protein; core-binding factor, runt domain, alpha subunit
                     2; translocated to, 3; CBFA2/RUNX1 translocation partner
                     3"
                     /codon_start=1
                     /product="protein CBFA2T3 isoform 1"
                     /protein_id="NP_005178.4"
                     /db_xref="CCDS:CCDS10972.1"
                     /db_xref="GeneID:863"
                     /db_xref="HGNC:HGNC:1537"
                     /db_xref="MIM:603870"
                     /translation="MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRG
                     PRKGGPAPVDRKAKASAMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTH
                     REDGPATLPHGRFHGCLKWSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASL
                     STQHLPPACGARQLSKLKRFLTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHS
                     KLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQTPAQYLAQHEQLLLDASASS
                     PIDSSELLLEVNENGKRRTPDRTKENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPP
                     QPTPPPHYRLEDIAMAHHFRDAYRHPDPRELRERHRPLVVPGSRQEEVIDHKLTEREW
                     AEEWKHLNNLLNCIMDMVEKTRRSLTVLRRCQEADREELNHWARRYSDAEDTKKGPAP
                     AAARPRSSSAGPEGPQLDVPREFLPRTLTGYVPEDIWRKAEEAVNEVKRQAMSELQKA
                     VSDAERKAHELITTERAKMERALAEAKRQASEDALTVINQQEDSSESCWNCGRKASET
                     CSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPTAVVADPVPGPPEAAHSLGPSLPVG
                     AASPSEAGSAGPSRPGSPSPPGPLDTVPR"
     exon            552..704
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            705..779
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            780..1021
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1111
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1293
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1517
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1603
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1802
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1803..1871
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            1872..2062
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..4480
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4044..4049
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /note="hexamer: AATAAA"
     polyA_site      4061
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
     regulatory      4441..4446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /note="hexamer: AATAAA"
     polyA_site      4480
                     /gene="CBFA2T3"
                     /gene_synonym="ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4"
                     /note="major polyA site"
ORIGIN      
        1 aaaccggaat ggcccgaggg aaggccgcgc agggcagggc cccagatggt tcctgtcagg
       61 gaagtggcgg gcgcagctgc aggcctccgg ccccggcatt atcacgggga cacagctggc
      121 tgcctcaccc gcaggctgca gggagacctt ccccagcctg cagccccagg cccgccccgc
      181 gtcacatgag ccccagggct cccaccccct ccccagggca gaggacaccc agttggtggc
      241 cgggagggcc tcggctttcc agggacagag gcccaactcc aggacgcccc agctggccca
      301 gcccctcctc tttccctcaa ggctgcagga ggtcgggaaa ggcagtcctg gtagaggcct
      361 gtcctgggct ccaggttggc ccctgagggt ggccctcctc atgccggctt caagactgag
      421 ggacagggca gccagttcag cctcgggatc cacctgtggc tccatgtccc agacgcaccc
      481 tgtgctggag agcggcctcc tggcatctgc cggctgctcc gcaccccggg gtcccaggaa
      541 gggcggccca gccccagtgg acaggaaagc taaggcctca gcgatgccgg actccccagc
      601 ggaggtgaag acgcagcccc ggtccacacc ccccagcatg ccgcccccac cgcctgccgc
      661 atcccagggg gccacacgcc ccccctcctt cacgccacac acacatcgag aggacgggcc
      721 tgcgacgctg ccccacggcc gttttcatgg ctgcttaaaa tggtctatgg tctgtctctt
      781 gatgaacggc agcagccact caccaacagc catcaatggt gcaccgtgca cacccaacgg
      841 cttcagcaat ggcccggcca cctcgtccac agcctccttg tccacacagc acctgccccc
      901 agcctgcggg gcccggcagc tcagcaagct caagcgcttc ctcaccacac tgcagcagtt
      961 tggcagcgac atctccccag agattgggga gcgcgtgcgc acactggtgc tgggcctggt
     1021 gaactcgaca ttgacgatcg aggagtttca ttccaagctt caggaggcca ccaacttccc
     1081 tctgcggccg tttgtcattc ccttcctgaa ggcaaacctg cccttgctgc agcgggagct
     1141 cctgcactgt gcacgcctgg ccaagcagac gcccgcccag tacttggccc agcatgagca
     1201 gctcctgctg gacgccagcg cctcctcccc catcgactcc tcagagctgc tactggaagt
     1261 caacgagaac ggcaagagga ggacgcccga caggaccaaa gagaacgggt cagaccgcga
     1321 cccgctgcac cccgagcacc tcagcaaacg gccatgcacc ctgaaccctg cccagcgcta
     1381 cagccccagc aacgggccac cgcagcccac accgccgccg cactaccgcc tggaggacat
     1441 agccatggcc caccacttcc gagatgccta ccgccaccca gacccccggg agctacgaga
     1501 gcgccatcgg ccgcttgtgg tgcctgggtc ccggcaggaa gaagtgatcg accacaagct
     1561 cacagagcgt gagtgggcag aagagtggaa gcacctcaac aacctcctga actgcatcat
     1621 ggacatggtg gagaagacgc ggcgctcgct cacggtgctg cgcaggtgcc aggaggccga
     1681 ccgcgaggag ctcaaccact gggcgcggcg ctacagcgac gccgaggaca caaagaaggg
     1741 ccccgctccc gccgcggccc ggccccgcag cagctccgcc ggtcccgaag ggcctcagct
     1801 agacgtgcct cgcgagttcc tgccgaggac cctcaccggc tacgtgcctg aggacatctg
     1861 gaggaaggct gaagaggccg tgaatgaggt gaagcggcag gccatgtcgg agctgcagaa
     1921 agccgtgtcg gacgcggagc gcaaagcgca cgagctcatc accacggagc gtgccaagat
     1981 ggagcgggcc ctggccgagg cgaagcggca ggcctccgag gacgccctga cggtcatcaa
     2041 ccagcaggag gactccagcg agagctgctg gaactgcggg cggaaagcca gtgagacgtg
     2101 cagcggctgc aacgcggcac gctactgcgg gtccttctgc cagcatcggg actgggagaa
     2161 gcatcaccac gtgtgtggcc agagcctgca gggccccaca gccgtggtgg ccgacccggt
     2221 gcctggaccg cccgaagccg cccacagcct gggcccctcc ctgcctgtgg gtgctgccag
     2281 ccccagcgaa gccggctctg cggggccttc tcgccccggc tcccccagcc cacctggccc
     2341 actggacacc gtgccccgct gaccccactg gcccctggcc tgccggacac agcaccgtgc
     2401 caaccccacc cagctccagg cccaccggat gctgtgcctg gcctccgatg cctggcctgc
     2461 cagacactgc gccccgcctg acctggggga gccgaccaat tagtcactgc tgctactgcc
     2521 cctctccgaa agaagacaca gaaccaacaa aaccgcattc agtgcacctg cctcagctac
     2581 ctaatgattc cgcgcggaga cctcctgaca acgtctcttc aagcatcctc agaagcctcg
     2641 actgagcttt agacagcaga gcagatgccg caggcgcggc ggctctgccc acctctcttt
     2701 tcctctctgt ctgtctctcc ccctctgtct tctctatcct ctctctctct atgactatca
     2761 cacactttct cttcaatgaa aaaatcgaat tggtggctta tattttcagc aaagaatttt
     2821 ggggggtttt gtgtgttggc aaaagagcta ctcagaaatg gacaaagaaa acgggggggt
     2881 tctccccctc ctgattaaaa agggagaaag aaaactgcga ttttatagct ggagatctga
     2941 acccagctgt gcccctcccc caggggcgtg aggctgatca gcgaagacgg gaggaaagat
     3001 ttcgatttct gactcaagat gcatttttgg tttcagattt ttttttcctg taatgttaaa
     3061 ctctttggct ttaagtaaaa atccaaaaag tttttttaaa aaagcaaagg aagcatactt
     3121 gtgaactacc ttgctagcta gccagccaag gataccggac acacctctgc tccaaaggaa
     3181 atccaaaaaa gcaaacacaa gaaatcaaaa tccaaaattt gtttgtcact gccaaagtat
     3241 ttttttcact gtttcacttg ctcttgggtt tgtttggatg tgggtctttt tctcttctgt
     3301 tctgattttg tttgtgggtg tcgggatatt tgggtgcaga gggtttgtgc ccagttagaa
     3361 gcgacttttg ttctcttctg cgtaggcgtt ggtgcgtccg ccgcgtgtgc gtggtccgtg
     3421 tgccgttgct ccggcctgcg tctccatatg tgtaggaaag gacacgccgt ctgtcctcac
     3481 gccccctgtg acttttcata tttccgtttt ccacttgtgg aaaaaaagtg ctaaagtttt
     3541 cttcccagag agagcataat tccgaaacaa aactgtgaca atcttttggg ttgattctcg
     3601 actgcttttc gagcatgcgg agccagcagg cctccctgaa acactgcttc tcggccagcc
     3661 cgtcctcctc tacctctctc ctctccgcgc cctccgacct ctctcggccc cctcacccca
     3721 gctccgacct ctctcagccc catcgcccca actccaacct ctcggcccca tcgccccacc
     3781 gcagctactc ccctttcttc caaacttttg cagaaaaaac aaaaaaacta caaacaaaag
     3841 cagccctctg cctcctcccc agggaagacc ctgaccgtgt acatagccct ggtgctcctg
     3901 cccagccacc cctcagatgc gttcgcctct ggccctgggg tgtgtctcgg tgacgttttc
     3961 tatcagacgt gctccctccc atcctccagc cctgcccacc ctccctccac tcctctcaac
     4021 tgcctcagcg atttcaagaa ggaaataaag ggataaagaa attcatgctt gcaccgagta
     4081 caaggacaga cagcaggcac ggcccgcagc ctggcatctg tgcgtgtggc gtggcccgtg
     4141 gcttggcatc tgtgtgcgtg gtgtggcccg tggcctggca tctgtgtgcg tggcgtggcc
     4201 cgtggcctgg catctgtgtg tgtggcgtgg cccgtggcct ggcatctgtg cgcgtggcgt
     4261 ggcccgtggc ctggcatctg tgtgcgtggc tatcaggagt tctaggaact cagtgcaata
     4321 cgggagtgac ccagctactg aaccagccac gaacagcccg ccagaggcct gaagctgagc
     4381 gtgtacgtta atgtgaatgt atatagtctt tgcagaggtc caaatgatat tcatgatggt
     4441 aataaacgag atgtttgcca aataaaaaac agaaaccgca
//
