LOCUS       NM_016170               2170 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens T-cell leukemia homeobox 2 (TLX2), mRNA.
ACCESSION   NM_016170
VERSION     NM_016170.4  GI:295821160
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 2170)
  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   2  (bases 1 to 2170)
  AUTHORS   Fu,J.D., Jiang,P., Rushing,S., Liu,J., Chiamvimonvat,N. and Li,R.A.
  TITLE     Na+/Ca2+ exchanger is a determinant of excitation-contraction
            coupling in human embryonic stem cell-derived ventricular
            cardiomyocytes
  JOURNAL   Stem Cells Dev. 19 (6), 773-782 (2010)
   PUBMED   19719399
  REMARK    GeneRIF: NCX is functionally expressed in developing ventricular
            human embryonic stem cell-derived ventricular cardiomyocytes and
            contributes to their excitation-contraction coupling.
REFERENCE   3  (bases 1 to 2170)
  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   4  (bases 1 to 2170)
  AUTHORS   Kaifi,J.T., Wagner,M., Schurr,P.G., Wachowiak,R., Reichelt,U.,
            Yekebas,E.F., Mann,O., Vashist,Y., Kleinhans,H., Link,B.C.,
            Strate,T., Kalinin,V. and Izbicki,J.R.
  TITLE     Allelic loss of Hox11L1 gene locus predicts outcome of
            gastrointestinal stromal tumors
  JOURNAL   Oncol. Rep. 16 (4), 915-919 (2006)
   PUBMED   16969514
  REMARK    GeneRIF: Hox11L1 has a role in tumorigenesis in gastrointestinal
            stromal tumors
REFERENCE   5  (bases 1 to 2170)
  AUTHORS   Borghini,S., Bachetti,T., Fava,M., Di Duca,M., Cargnin,F.,
            Fornasari,D., Ravazzolo,R. and Ceccherini,I.
  TITLE     The TLX2 homeobox gene is a transcriptional target of PHOX2B in
            neural-crest-derived cells
  JOURNAL   Biochem. J. 395 (2), 355-361 (2006)
   PUBMED   16402914
  REMARK    GeneRIF: These results support the PHOX2B-TLX2 promoter
            interaction, suggesting a physiological role in the
            transcription-factor cascade underlying the differentiation of
            neuronal lineages of the Autonomic Nervous System during human
            embryogenesis.
REFERENCE   6  (bases 1 to 2170)
  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 2170)
  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   8  (bases 1 to 2170)
  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   9  (bases 1 to 2170)
  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 May 6, 2010 this sequence version replaced gi:34013511.
            
            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].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006356.2, AB008501.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025082, ERS025094 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC005041.2         20816-20830         c
            16-1767             BC006356.2         1-1752
            1768-2170           BU740503.1         1-403               c
FEATURES             Location/Qualifiers
     source          1..2170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..2170
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="T-cell leukemia homeobox 2"
                     /db_xref="GeneID:3196"
                     /db_xref="HGNC:5057"
                     /db_xref="HPRD:07254"
                     /db_xref="MIM:604240"
     exon            1..738
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    1
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="transcription initiation site"
     variation       151
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:36079538"
     variation       226
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374363752"
     misc_feature    285..287
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="upstream in-frame stop codon"
     variation       306
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:80002663"
     CDS             339..1193
                     /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="GI:7706621"
                     /db_xref="CCDS:CCDS1947.1"
                     /db_xref="GeneID:3196"
                     /db_xref="HGNC:5057"
                     /db_xref="HPRD:07254"
                     /db_xref="MIM:604240"
                     /translation="

MEPGMLGPHNLPHHEPISFGIDQILSGPETPGGGLGLGRGGQGHGENGAFSGGYHGASGYGPAGSLAPLPGSSGVGPGGVIRVPAHRPLPVPPPAGGAPAVPGPSGLGGAGGLAGLTFPWMDSGRRFAKDRLTAALSPFSGTRRIGHPYQNRTPPKRKKPRTSFSRSQVLELERRFLRQKYLASAERAALAKALRMTDAQVKTWFQNRRTKWRRQTAEEREAERHRAGRLLLHLQQDALPRPLRPPLPPDPLCLHNSSLFALQNLQPWAEDNKVASVSGLASVV

"
     misc_feature    810..983
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /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:28970"
     misc_feature    order(810..824,828..830,879..881,897..899,936..938,
                     942..947,954..959,963..971,975..980)
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(816..818,825..827,945..947,954..959,966..968)
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       345
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372415979"
     variation       347
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:140006219"
     variation       381
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201556359"
     variation       386
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146015962"
     variation       396
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200296220"
     variation       440
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369784132"
     variation       460
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375686840"
     variation       506
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373888069"
     variation       587
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:115897631"
     variation       613
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370913959"
     variation       626
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2233313"
     variation       730
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:192361957"
     variation       736
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375415258"
     exon            739..976
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /inference="alignment:Splign:1.39.8"
     variation       760
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2233314"
     variation       824
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369779468"
     variation       858
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:142188865"
     variation       860
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2233315"
     variation       901
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370902735"
     variation       921
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:140224606"
     exon            977..2152
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /inference="alignment:Splign:1.39.8"
     variation       1007
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371816740"
     variation       1016
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371068999"
     variation       1170
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141921839"
     variation       1171
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201206879"
     variation       1172
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200814878"
     variation       1190
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371873988"
     variation       1243
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199751543"
     variation       1412
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140437302"
     variation       1476
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:3171884"
     variation       1772
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:73949678"
     variation       1775
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:74994509"
     variation       1914
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190061298"
     variation       2117
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75416134"
     polyA_signal    2134..2139
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
     polyA_site      2152
                     /gene="TLX2"
                     /gene_synonym="HOX11L1; NCX"
ORIGIN      

gctggccaaccctctccacccgggacttgggcagcggcgccggcagcccagcgtctatttgcgcttaagagccagcaaggaagctccaggggccccagctggccgtgctcccccgggatgcaagtccctgcgctgacgcccggcagcggctggcacgggcgcggctgctccgggtgcacagggatgctgctgtttcggggaccccggcgccctgccttggccagccccgcgggcccctgaggccactctccggagcgcgccgccgctgggcttctggcgctgcctgaggcatcctccccaaccaccgaacctccggcggttctcctcggcccagaccgatggagccggggatgctgggtccacacaacctcccacaccacgagccaatcagcttcggcatcgatcagatcctgagcggccccgaaaccccagggggcggtctaggcctgggtcgcgggggccagggtcatggggagaatggggcgttctcgggtggataccacggagcctcgggctacggtcccgccggctcacttgccccgctgcccggcagctccggagtgggcccaggcggcgtgatccgcgtccctgcgcaccgcccgctgcctgtgccgccgcccgctgggggggcgcctgcagtgcctgggccctcgggtttgggcggcgccggaggcctagcgggactcaccttcccctggatggacagcggccgccgctttgccaaggaccggctcacggctgcgctctcgcccttctctgggacgcgccgcataggccacccctaccaaaaccggacccctccgaagcggaagaagccgcgcacgtccttctcccgctcacaggtgctggagttggagcggcgcttcctgcgccagaagtacctggcctctgcggagagggcggcgctggccaaggccttgcgcatgaccgacgcacaggtcaaaacgtggttccagaaccgacgcaccaagtggcggcgccagacggcggaggagcgcgaggccgagcggcaccgcgcgggccggctgctcctgcatctgcagcaggacgcgttgccacggccgctgcggccgccgctgcccccggaccctctctgcctgcacaactcgtcgctcttcgcgctgcagaacctgcagccctgggccgaggacaacaaagtggcttcagtgtccgggctcgcctcggtggtgtgagcgacgcccgtccgatcggcgtggagcgccgggcccggagcggtggagcgcgcggctgcctgcgtccatggtctagtggcagccgggcgcgtgaggagcggcaggccttgaggctgtcgtcgagggctcctccaccaccggccggctcccaagccagcgttgcgcagatgcacggccagctcagaggcggcctttcccgccatttttcacttcactgccgttacgccctcgctggaacctgaggcgccgagagggcgggacctgcaggacagtagccaatgaggtgcggggagggggccgggctggccaatgggagctgctttcctgagggactcgaaattctccggcgggtggtcgggagctggggctctgaggggctctagcggcgttgcgcgcggtgccggctgggtctgtaccaaaggtgtgaaggaaagaagacaccgaccacggcgaagcaatagagggggtgctggagcgcgagaggctggctgattgtgaccgaaaccagagggttgtccaccccgggcatctcatccctcaactgtaaaataatcgctaaggattccttcctgactttgagcctcacgttgtcatgtgtgttcagcctgctggccacatcctccggcaacacgcccgggcaggaggcgagtcggatacttacacacccaacgaaagagaaaatctggctccggtgtcacatagggacagagaagggagaggaggaaacagtggacaaagttaatgggcccagtggagttagggtgaagagaatttggaaaataatttggaagtgacaagcttaagaagaatcaaaggtaattccaagactggaaatgtgcagcatcaggaaatcaatggtgctgtggatgatgaaagggaaattgggaagactggagcaaaattaactgtataggcaaaactaaatgttatacctagagagaataaatcctggagaagtgaaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:3196 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
            GeneID:3196 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:3196 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:3196 -> Biological process: GO:0001707 [mesoderm formation] evidence: IEA
            GeneID:3196 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:3196 -> Biological process: GO:0008150 [biological_process] evidence: ND
            GeneID:3196 -> Biological process: GO:0048484 [enteric nervous system development] evidence: IEA
            GeneID:3196 -> Biological process: GO:0050774 [negative regulation of dendrite morphogenesis] evidence: IEA
            GeneID:3196 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
            GeneID:3196 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
            GeneID:3196 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA