LOCUS       NM_016170               2171 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens T cell leukemia homeobox 2 (TLX2), mRNA.
ACCESSION   NM_016170
VERSION     NM_016170.5
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 2171)
  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   2  (bases 1 to 2171)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (bases 1 to 2171)
  AUTHORS   Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M.,
            Toyama,S., Usami,R., Ohtoko,K. and Kato,S.
  TITLE     Full-length transcriptome analysis of human retina-derived cell
            lines ARPE-19 and Y79 using the vector-capping method
  JOURNAL   Invest Ophthalmol Vis Sci 52 (9), 6662-6670 (2011)
   PUBMED   21697133
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2171)
  AUTHORS   Louhivuori,L.M., Jansson,L., Nordstrom,T., Bart,G., Nasman,J. and
            Akerman,K.E.
  TITLE     Selective interference with TRPC3/6 channels disrupts OX1 receptor
            signalling via NCX and reveals a distinct calcium influx pathway
  JOURNAL   Cell Calcium 48 (2-3), 114-123 (2010)
   PUBMED   20728215
  REMARK    GeneRIF: NCX-TRPC channel interaction constitutes an important
            functional unit in receptor-mediated divalent calcium ion influx in
            neuronal cells.
REFERENCE   5  (bases 1 to 2171)
  AUTHORS   Borghini,S., Bachetti,T., Fava,M., Duca,M.D., Ravazzolo,R. and
            Ceccherini,I.
  TITLE     Functional characterization of a minimal sequence essential for the
            expression of human TLX2 gene
  JOURNAL   BMB Rep 42 (12), 788-793 (2009)
   PUBMED   20044949
  REMARK    GeneRIF: TLX2 is an orphan homeodomain transcription factor whose
            expression is mainly associated with tissues derived from neural
            crest cells.
REFERENCE   6  (bases 1 to 2171)
  AUTHORS   Parisi,M.A., Lipman,N.S., Clarke,C.M., Taylor,B. and Kapur,R.P.
  TITLE     Evaluation of Hox11L1 in the fmc/fmc rat model of chronic
            intestinal pseudo-obstruction
  JOURNAL   J Pediatr Surg 40 (11), 1760-1765 (2005)
   PUBMED   16291166
  REMARK    GeneRIF: Alignment of sequences obtained from rat, human, and mouse
            indicates that putative regulatory elements of the Hox11L1 gene are
            conserved in rat, mice, and humans.
REFERENCE   7  (bases 1 to 2171)
  AUTHORS   Shimizu,H., Kang,M., Iitsuka,Y., Ichinose,M., Tokuhisa,T. and
            Hatano,M.
  TITLE     Identification of an optimal Ncx binding sequence required for
            transcriptional activation
  JOURNAL   FEBS Lett 475 (3), 170-174 (2000)
   PUBMED   10869550
REFERENCE   8  (bases 1 to 2171)
  AUTHORS   Iitsuka,Y., Shimizu,H., Kang,M.M., Sasagawa,K., Sekiya,S.,
            Tokuhisa,T. and Hatano,M.
  TITLE     An enhancer element for expression of the Ncx (Enx, Hox11L1) gene
            in neural crest-derived cells
  JOURNAL   J Biol Chem 274 (34), 24401-24407 (1999)
   PUBMED   10446220
  REMARK    GeneRIF: This paper describes sequencing and comparison of 5'
            flanking regions of the gene, and expression in several
            neuroblastoma cell lines, in both mouse and human.
REFERENCE   9  (bases 1 to 2171)
  AUTHORS   Puliti,A., Cinti,R., Betsos,N., Romeo,G. and Ceccherini,I.
  TITLE     HOX11L1, a gene involved in peripheral nervous system development,
            maps to human chromosome 2p13.1-->p12 and mouse chromosome 6C3-D1
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 115-117 (1999)
   PUBMED   10343123
REFERENCE   10 (bases 1 to 2171)
  AUTHORS   Tang,S.J., Suen,T.C., McInnes,R.R. and Buchwald,M.
  TITLE     Association of the TLX-2 homeodomain and 14-3-3eta signaling
            proteins
  JOURNAL   J Biol Chem 273 (39), 25356-25363 (1998)
   PUBMED   9738002
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005041.2, BC006356.2 and
            BU740503.1.
            
            On Nov 24, 2018 this sequence version replaced NM_016170.4.
            
            Summary: This gene is a member of an orphan homeobox-containing
            transcription factor family. Studies of the mouse ortholog have
            shown that the encoded protein is crucial for the development of
            the enteric nervous system; in humans, loss-of-function may play a
            role in tumorigenesis of gastrointestinal stromal tumors. [provided
            by RefSeq, May 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 :: BC006356.2, AB008501.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000233638.8/ ENSP00000233638.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AC005041.2         20816-20849         c
            35-1786             BC006356.2         1-1752
            1787-2171           BU740503.1         19-403              c
FEATURES             Location/Qualifiers
     source          1..2171
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..2171
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="T cell leukemia homeobox 2"
                     /db_xref="GeneID:3196"
                     /db_xref="HGNC:HGNC:5057"
                     /db_xref="MIM:604240"
     exon            1..757
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /inference="alignment:Splign:2.1.0"
     CDS             358..1212
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="homeo box 11-like 1; neural crest homeobox protein;
                     homeobox protein Hox-11L1"
                     /codon_start=1
                     /product="T-cell leukemia homeobox protein 2"
                     /protein_id="NP_057254.1"
                     /db_xref="CCDS:CCDS1947.1"
                     /db_xref="GeneID:3196"
                     /db_xref="HGNC:HGNC:5057"
                     /db_xref="MIM:604240"
                     /translation="MEPGMLGPHNLPHHEPISFGIDQILSGPETPGGGLGLGRGGQGH
                     GENGAFSGGYHGASGYGPAGSLAPLPGSSGVGPGGVIRVPAHRPLPVPPPAGGAPAVP
                     GPSGLGGAGGLAGLTFPWMDSGRRFAKDRLTAALSPFSGTRRIGHPYQNRTPPKRKKP
                     RTSFSRSQVLELERRFLRQKYLASAERAALAKALRMTDAQVKTWFQNRRTKWRRQTAE
                     EREAERHRAGRLLLHLQQDALPRPLRPPLPPDPLCLHNSSLFALQNLQPWAEDNKVAS
                     VSGLASVV"
     exon            758..995
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /inference="alignment:Splign:2.1.0"
     exon            996..2171
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1760..1765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="hexamer: AATAAT"
     polyA_site      1785
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="major polyA site"
     regulatory      2153..2158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="hexamer: AATAAA"
     polyA_site      2171
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
ORIGIN      
        1 agtcactgcc ccagccggag ctggccaacc ctctccaccc gggacttggg cagcggcgcc
       61 ggcagcccag cgtctatttg cgcttaagag ccagcaagga agctccaggg gccccagctg
      121 gccgtgctcc cccgggatgc aagtccctgc gctgacgccc ggcagcggct ggcacgggcg
      181 cggctgctcc gggtgcacag ggatgctgct gtttcgggga ccccggcgcc ctgccttggc
      241 cagccccgcg ggcccctgag gccactctcc ggagcgcgcc gccgctgggc ttctggcgct
      301 gcctgaggca tcctccccaa ccaccgaacc tccggcggtt ctcctcggcc cagaccgatg
      361 gagccgggga tgctgggtcc acacaacctc ccacaccacg agccaatcag cttcggcatc
      421 gatcagatcc tgagcggccc cgaaacccca gggggcggtc taggcctggg tcgcgggggc
      481 cagggtcatg gggagaatgg ggcgttctcg ggtggatacc acggagcctc gggctacggt
      541 cccgccggct cacttgcccc gctgcccggc agctccggag tgggcccagg cggcgtgatc
      601 cgcgtccctg cgcaccgccc gctgcctgtg ccgccgcccg ctgggggggc gcctgcagtg
      661 cctgggccct cgggtttggg cggcgccgga ggcctagcgg gactcacctt cccctggatg
      721 gacagcggcc gccgctttgc caaggaccgg ctcacggctg cgctctcgcc cttctctggg
      781 acgcgccgca taggccaccc ctaccaaaac cggacccctc cgaagcggaa gaagccgcgc
      841 acgtccttct cccgctcaca ggtgctggag ttggagcggc gcttcctgcg ccagaagtac
      901 ctggcctctg cggagagggc ggcgctggcc aaggccttgc gcatgaccga cgcacaggtc
      961 aaaacgtggt tccagaaccg acgcaccaag tggcggcgcc agacggcgga ggagcgcgag
     1021 gccgagcggc accgcgcggg ccggctgctc ctgcatctgc agcaggacgc gttgccacgg
     1081 ccgctgcggc cgccgctgcc cccggaccct ctctgcctgc acaactcgtc gctcttcgcg
     1141 ctgcagaacc tgcagccctg ggccgaggac aacaaagtgg cttcagtgtc cgggctcgcc
     1201 tcggtggtgt gagcgacgcc cgtccgatcg gcgtggagcg ccgggcccgg agcggtggag
     1261 cgcgcggctg cctgcgtcca tggtctagtg gcagccgggc gcgtgaggag cggcaggcct
     1321 tgaggctgtc gtcgagggct cctccaccac cggccggctc ccaagccagc gttgcgcaga
     1381 tgcacggcca gctcagaggc ggcctttccc gccatttttc acttcactgc cgttacgccc
     1441 tcgctggaac ctgaggcgcc gagagggcgg gacctgcagg acagtagcca atgaggtgcg
     1501 gggagggggc cgggctggcc aatgggagct gctttcctga gggactcgaa attctccggc
     1561 gggtggtcgg gagctggggc tctgaggggc tctagcggcg ttgcgcgcgg tgccggctgg
     1621 gtctgtacca aaggtgtgaa ggaaagaaga caccgaccac ggcgaagcaa tagagggggt
     1681 gctggagcgc gagaggctgg ctgattgtga ccgaaaccag agggttgtcc accccgggca
     1741 tctcatccct caactgtaaa ataatcgcta aggattcctt cctgactttg agcctcacgt
     1801 tgtcatgtgt gttcagcctg ctggccacat cctccggcaa cacgcccggg caggaggcga
     1861 gtcggatact tacacaccca acgaaagaga aaatctggct ccggtgtcac atagggacag
     1921 agaagggaga ggaggaaaca gtggacaaag ttaatgggcc cagtggagtt agggtgaaga
     1981 gaatttggaa aataatttgg aagtgacaag cttaagaaga atcaaaggta attccaagac
     2041 tggaaatgtg cagcatcagg aaatcaatgg tgctgtggat gatgaaaggg aaattgggaa
     2101 gactggagca aaattaactg tataggcaaa actaaatgtt atacctagag agaataaatc
     2161 ctggagaagt g
//
