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2024-03-29 18:33:16, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_021025               1513 bp    mRNA    linear   PRI 08-JUN-2013
DEFINITION  Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.
ACCESSION   NM_021025
VERSION     NM_021025.2  GI:50355977
KEYWORDS    RefSeq.
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 1513)
  AUTHORS   Dadi,S., Le Noir,S., Payet-Bornet,D., Lhermitte,L.,
            Zacarias-Cabeza,J., Bergeron,J., Villarese,P., Vachez,E., Dik,W.A.,
            Millien,C., Radford,I., Verhoeyen,E., Cosset,F.L., Petit,A.,
            Ifrah,N., Dombret,H., Hermine,O., Spicuglia,S., Langerak,A.W.,
            Macintyre,E.A., Nadel,B., Ferrier,P. and Asnafi,V.
  TITLE     TLX homeodomain oncogenes mediate T cell maturation arrest in T-ALL
            via interaction with ETS1 and suppression of TCRalpha gene
            expression
  JOURNAL   Cancer Cell 21 (4), 563-576 (2012)
   PUBMED   22516263
  REMARK    GeneRIF: The cortical thymic maturation arrest in T-lineage Acute
            lymphoblastic leukemias (ALLs) that overexpress TLX1 or TLX3 is due
            to binding of TLX1/TLX3 to ETS1.
REFERENCE   2  (bases 1 to 1513)
  AUTHORS   Della Gatta,G., Palomero,T., Perez-Garcia,A., Ambesi-Impiombato,A.,
            Bansal,M., Carpenter,Z.W., De Keersmaecker,K., Sole,X., Xu,L.,
            Paietta,E., Racevskis,J., Wiernik,P.H., Rowe,J.M., Meijerink,J.P.,
            Califano,A. and Ferrando,A.A.
  TITLE     Reverse engineering of TLX oncogenic transcriptional networks
            identifies RUNX1 as tumor suppressor in T-ALL
  JOURNAL   Nat. Med. 18 (3), 436-440 (2012)
   PUBMED   22366949
  REMARK    GeneRIF: these results place TLX1 and TLX3 at the top of an
            oncogenic transcriptional network controlling leukemia development,
            and identify RUNX1 as a tumor-suppressor gene in T-ALL
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1513)
  AUTHORS   Tada,Y., Yokomizo,A., Shiota,M., Tsunoda,T., Plass,C. and Naito,S.
  TITLE     Aberrant DNA methylation of T-cell leukemia, homeobox 3 modulates
            cisplatin sensitivity in bladder cancer
  JOURNAL   Int. J. Oncol. 39 (3), 727-733 (2011)
   PUBMED   21617853
  REMARK    GeneRIF: We found that 22 (21%) out of 110 clinical samples of
            bladder cancer showed the methylated pattern using the COBRA assay
            in TLX3. We found a correlation between TLX3 methylation and the
            sensitivity to cisplatin in the clinical samples by SDI test.
REFERENCE   4  (bases 1 to 1513)
  AUTHORS   Kondo,T., Matsuoka,A.J., Shimomura,A., Koehler,K.R., Chan,R.J.,
            Miller,J.M., Srour,E.F. and Hashino,E.
  TITLE     Wnt signaling promotes neuronal differentiation from mesenchymal
            stem cells through activation of Tlx3
  JOURNAL   Stem Cells 29 (5), 836-846 (2011)
   PUBMED   21374761
  REMARK    GeneRIF: Results identify Tlx3 as a novel target for canonical Wnt
            signaling that confers somatic stem cells with a sensory neuron
            phenotype upon neural induction.
REFERENCE   5  (bases 1 to 1513)
  AUTHORS   Oliveira,J.L., Kumar,R., Khan,S.P., Law,M.E., Erickson-Johnson,M.,
            Oliveira,A.M., Ketterling,R.P. and Dogan,A.
  TITLE     Successful treatment of a child with T/myeloid acute bilineal
            leukemia associated with TLX3/BCL11B fusion and 9q deletion
  JOURNAL   Pediatr Blood Cancer 56 (3), 467-469 (2011)
   PUBMED   21225930
  REMARK    GeneRIF: High TLX3/BCL11B fusion protein expression is associated
            with T/myeloid acute bilineal leukemia.
REFERENCE   6  (bases 1 to 1513)
  AUTHORS   Ballerini,P., Blaise,A., Busson-Le Coniat,M., Su,X.Y.,
            Zucman-Rossi,J., Adam,M., van den Akker,J., Perot,C.,
            Pellegrino,B., Landman-Parker,J., Douay,L., Berger,R. and
            Bernard,O.A.
  TITLE     HOX11L2 expression defines a clinical subtype of pediatric T-ALL
            associated with poor prognosis
  JOURNAL   Blood 100 (3), 991-997 (2002)
   PUBMED   12130513
  REMARK    GeneRIF: HOX11L2 expression defines a clinical subtype of pediatric
            T-ALL associated with poor prognosis.
REFERENCE   7  (bases 1 to 1513)
  AUTHORS   Bernard,O.A., Busson-LeConiat,M., Ballerini,P., Mauchauffe,M.,
            Della Valle,V., Monni,R., Nguyen Khac,F., Mercher,T.,
            Penard-Lacronique,V., Pasturaud,P., Gressin,L., Heilig,R.,
            Daniel,M.T., Lessard,M. and Berger,R.
  TITLE     A new recurrent and specific cryptic translocation,
            t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene
            in T acute lymphoblastic leukemia
  JOURNAL   Leukemia 15 (10), 1495-1504 (2001)
   PUBMED   11587205
REFERENCE   8  (bases 1 to 1513)
  AUTHORS   Lee-Kirsch,M.A., Engel,K., Paditz,E., Rosen-Wolff,A., Lee,Y.A. and
            Gahr,M.
  TITLE     Assignment of the human homeobox 11-like 2 gene (HOX11L2) to
            chromosome 5q34-->q35 by radiation hybrid mapping
  JOURNAL   Cytogenet. Cell Genet. 92 (3-4), 358 (2001)
   PUBMED   11435718
REFERENCE   9  (bases 1 to 1513)
  AUTHORS   Cinti,R., Fava,M., Sancandi,M., Matera,I., Ravazzolo,R. and
            Ceccherini,I.
  TITLE     Assignment of the HOX11L2 gene to human chromosome band 5q35.1 and
            of its murine homolog to mouse chromosome bands 11A4-A5 by in situ
            hybridization
  JOURNAL   Cytogenet. Cell Genet. 92 (3-4), 354-355 (2001)
   PUBMED   11435716
REFERENCE   10 (bases 1 to 1513)
  AUTHORS   Dear,T.N., Sanchez-Garcia,I. and Rabbitts,T.H.
  TITLE     The HOX11 gene encodes a DNA-binding nuclear transcription factor
            belonging to a distinct family of homeobox genes
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 90 (10), 4431-4435 (1993)
   PUBMED   8099440
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC017291.2.
            On Jul 18, 2004 this sequence version replaced gi:10440563.
            
            Summary: RNX (HOX11L2, TLX3) belongs to a family of orphan homeobox
            genes that encode DNA-binding nuclear transcription factors.
            Members of the HOX11 gene family are characterized by a
            threonine-47 replacing cytosine in the highly conserved homeodomain
            (Dear et al., 1993 [PubMed 8099440]).[supplied by OMIM, Mar 2008].
            
            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 :: BC017291.2, BG828093.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1513
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..1513
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /note="T-cell leukemia homeobox 3"
                     /db_xref="GeneID:30012"
                     /db_xref="HGNC:13532"
                     /db_xref="MIM:604640"
     exon            1..503
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /inference="alignment:Splign:1.39.8"
     variation       41
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376460561"
     variation       82
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201757280"
     CDS             83..958
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /note="homeo box 11-like 2; T-cell leukemia, homeobox 3;
                     homeobox protein Hox-11L2"
                     /codon_start=1
                     /product="T-cell leukemia homeobox protein 3"
                     /protein_id="NP_066305.2"
                     /db_xref="GI:50355978"
                     /db_xref="CCDS:CCDS34288.1"
                     /db_xref="GeneID:30012"
                     /db_xref="HGNC:13532"
                     /db_xref="MIM:604640"
                     /translation="
MEAPASAQTPHPHEPISFGIDQILNSPDQDSAPAPRGPDGASYLGGPPGGRPGATYPSLPASFAGLGAPFEDAGSYSVNLSLAPAGVIRVPAHRPLPGAVPPPLPSALPAMPSVPTVSSLGGLNFPWMESSRRFVKDRFTAAAALTPFTVTRRIGHPYQNRTPPKRKKPRTSFSRVQICELEKRFHRQKYLASAERAALAKSLKMTDAQVKTWFQNRRTKWRRQTAEEREAERQQASRLMLQLQHDAFQKSLNDSIQPDPLCLHNSSLFALQNLQPWEEDSSKVPAVTSLV
"
     misc_feature    581..745
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:238039"
     misc_feature    order(581..595,599..601,650..652,668..670,707..709,
                     713..718,725..730,734..742)
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:238039"
     misc_feature    order(587..589,596..598,716..718,725..730,737..739)
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:238039"
     variation       102
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376677458"
     variation       108
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370753140"
     variation       118
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373303131"
     variation       179
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199762968"
     variation       187
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2303742"
     variation       234
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200774344"
     variation       239
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200001019"
     variation       278
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146976707"
     variation       283
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:36095128"
     variation       331
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370425875"
     variation       335
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:34255055"
     variation       338
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368190023"
     variation       373
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372536922"
     variation       417
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201883284"
     variation       442
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150863748"
     exon            504..747
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /inference="alignment:Splign:1.39.8"
     variation       571
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200530381"
     variation       639
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199546814"
     variation       673
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201413999"
     variation       724
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182364316"
     exon            748..1493
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /inference="alignment:Splign:1.39.8"
     variation       777
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200588592"
     variation       809
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:142802207"
     variation       861
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377207191"
     variation       905
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369063976"
     variation       924
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146143286"
     variation       927
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140182232"
     variation       935
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149813712"
     variation       941
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201600677"
     variation       952
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145807029"
     variation       1191
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:918472"
     variation       1445
                     /gene="TLX3"
                     /gene_synonym="HOX11L2; RNX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:60850132"
ORIGIN      
gccgggcgctccatggccgcgccgtaacggggacccagccgcctccccgcccagcccagcccagcccttccgcccgcccaggatggaggcgcccgccagcgcgcagaccccgcacccgcacgagcccatcagcttcggcatcgaccagatccttaacagcccggaccaggacagcgcacccgccccgcggggccccgacggcgccagctacctgggagggccccccgggggccgtccgggcgccacatacccgtctctgcccgcctcctttgcgggcctcggcgcgcccttcgaggacgcgggatcttacagtgtgaacctgagcctagcgcccgcaggcgtgatccgggtgccggcgcacaggccgctgcccggggccgtgccaccgcctctgccaagcgcgctacccgccatgccctccgtgcccacggtctccagccttggcggtctcaatttcccctggatggagagcagccgccgcttcgtgaaagaccgcttcacagcggcggccgcactcacgcccttcaccgtgacccggcgcatcggccacccctaccagaaccggacgccgcccaagcgtaagaagccgcgcacgtccttttcccgggtgcagatctgcgagctggaaaagcgcttccatcgccagaagtacctggcctctgccgagagggcggcgctcgccaagtccctcaaaatgacggacgcgcaggtcaagacctggttccaaaaccggaggaccaagtggcggcggcagacggcggaggagcgggaggcggagcggcagcaggcgagccggctcatgctgcagctgcaacacgacgccttccaaaagagcctcaacgactccatccagcctgacccgctctgtctgcacaactcgtcactctttgctctgcagaatctgcagccctgggaggaggatagttccaaggttcccgctgtcacctccctggtgtgagcccaccagcgcgcaccgtcgccacggatcgccgcccccacccagccgggcgccccggaccccccaggagggctgcgggggaaccggcgccgagaggggaaggggccgcctagcccgagtaggccccagggcgcggccacagactggcgggccgcggaagggggtagggcccgagctccgcgcggccgcacaatccgagcccccgccccgcgccccgtcccgccccaggcccgggcctgacaagaaagcgccttacgtttctccgccccccgcccgcaccccccgggccgggcgcctgtattatactttgtacttttgcccaaacgtgtaaataataaaaaagttttggcttttttctttagaaaccggccacctgcttcccccgcgggggccgctggaggaagggcagccgacccggccgctgggggaagtgccaggggcccggggcaccctgcgtttaggctgggtccactcttcttctttttcgttccttttatttaagtctttttatttaataaaaaagttagctatttcaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:30012 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:30012 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:30012 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:30012 -> Biological process: GO:0001764 [neuron migration] evidence: IEA
            GeneID:30012 -> Biological process: GO:0002087 [regulation of respiratory gaseous exchange by neurological system process] evidence: IEA
            GeneID:30012 -> Biological process: GO:0007417 [central nervous system development] evidence: IEA
            GeneID:30012 -> Biological process: GO:0007585 [respiratory gaseous exchange] evidence: IEA
            GeneID:30012 -> Biological process: GO:0045665 [negative regulation of neuron differentiation] evidence: IEA
            GeneID:30012 -> Biological process: GO:0048665 [neuron fate specification] evidence: IEA
            GeneID:30012 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

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