LOCUS       NM_002509               2095 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.
ACCESSION   NM_002509
VERSION     NM_002509.3  GI:317008590
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 2095)
  AUTHORS   Yoshida,A., Sekine,S., Tsuta,K., Fukayama,M., Furuta,K. and
            Tsuda,H.
  TITLE     NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma
  JOURNAL   Am. J. Surg. Pathol. 36 (7), 993-999 (2012)
   PUBMED   22446943
  REMARK    GeneRIF: NKX2.2 is a valuable marker for Ewing sarcoma, with a
            sensitivity of 93% and a specificity of 89%, and aids in the
            differential diagnosis of small round cell tumors.
REFERENCE   2  (bases 1 to 2095)
  AUTHORS   Panman,L., Andersson,E., Alekseenko,Z., Hedlund,E., Kee,N.,
            Mong,J., Uhde,C.W., Deng,Q., Sandberg,R., Stanton,L.W., Ericson,J.
            and Perlmann,T.
  TITLE     Transcription factor-induced lineage selection of stem-cell-derived
            neural progenitor cells
  JOURNAL   Cell Stem Cell 8 (6), 663-675 (2011)
   PUBMED   21624811
  REMARK    GeneRIF: The NKX2-2 can induce desired neuronal lineages from most
            expressing neural progenitor cells by a mechanism resembling
            developmental binary cell-fate switching.
REFERENCE   3  (bases 1 to 2095)
  AUTHORS   Homminga,I., Pieters,R., Langerak,A.W., de Rooi,J.J., Stubbs,A.,
            Verstegen,M., Vuerhard,M., Buijs-Gladdines,J., Kooi,C., Klous,P.,
            van Vlierberghe,P., Ferrando,A.A., Cayuela,J.M., Verhaaf,B.,
            Beverloo,H.B., Horstmann,M., de Haas,V., Wiekmeijer,A.S.,
            Pike-Overzet,K., Staal,F.J., de Laat,W., Soulier,J., Sigaux,F. and
            Meijerink,J.P.
  TITLE     Integrated transcript and genome analyses reveal NKX2-1 and MEF2C
            as potential oncogenes in T cell acute lymphoblastic leukemia
  JOURNAL   Cancer Cell 19 (4), 484-497 (2011)
   PUBMED   21481790
  REMARK    GeneRIF: NKX2-1, NKX2-2, and MEF2C define oncogenic pathways in T
            cell acute lymphoblastic leukemia (T-ALL).
REFERENCE   4  (bases 1 to 2095)
  AUTHORS   Wang,Y.C., Iezza,G., Zuraek,M.B., Jablons,D.M., Theodore,P.R.,
            Bergsland,E.K., Donner,D.B., Warren,R.S. and Nakakura,E.K.
  TITLE     Lack of NKX2.2 expression in bronchopulmonary typical carcinoid
            tumors: implications for patients with neuroendocrine tumor
            metastases and unknown primary site
  JOURNAL   J. Surg. Res. 163 (1), 47-51 (2010)
   PUBMED   20599218
  REMARK    GeneRIF: expression may assist in the determination of the primary
            tumor site in patients with neuroendocrine tumor metastases of
            unknown origin: negative would suggest a bronchopulmonary primary,
            whereas positive would suggest a gastrointestinal primary
REFERENCE   5  (bases 1 to 2095)
  AUTHORS   Chen,M., Sinha,M., Luxon,B.A., Bresnick,A.R. and O'Connor,K.L.
  TITLE     Integrin alpha6beta4 controls the expression of genes associated
            with cell motility, invasion, and metastasis, including
            S100A4/metastasin
  JOURNAL   J. Biol. Chem. 284 (3), 1484-1494 (2009)
   PUBMED   19011242
  REMARK    GeneRIF: several genes that are known to be regulated by DNA
            methylation were up-regulated dramatically by integrin alpha6beta4
            expression, including S100A4, FST, PDLIM4, CAPG, and Nkx2.2.
REFERENCE   6  (bases 1 to 2095)
  AUTHORS   Sun,T., Dong,H., Wu,L., Kane,M., Rowitch,D.H. and Stiles,C.D.
  TITLE     Cross-repressive interaction of the Olig2 and Nkx2.2 transcription
            factors in developing neural tube associated with formation of a
            specific physical complex
  JOURNAL   J. Neurosci. 23 (29), 9547-9556 (2003)
   PUBMED   14573534
REFERENCE   7  (bases 1 to 2095)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   8  (bases 1 to 2095)
  AUTHORS   Wang,C.C., Brodnicki,T., Copeland,N.G., Jenkins,N.A. and
            Harvey,R.P.
  TITLE     Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and
            Nkx2-1/2-9 in mammals
  JOURNAL   Mamm. Genome 11 (6), 466-468 (2000)
   PUBMED   10818213
REFERENCE   9  (bases 1 to 2095)
  AUTHORS   Hessabi,B., Schmidt,I. and Walther,R.
  TITLE     The homeodomain of Nkx2.2 carries two cooperatively acting nuclear
            localization signals
  JOURNAL   Biochem. Biophys. Res. Commun. 270 (3), 695-700 (2000)
   PUBMED   10772886
REFERENCE   10 (bases 1 to 2095)
  AUTHORS   Price,M., Lazzaro,D., Pohl,T., Mattei,M.G., Ruther,U., Olivo,J.C.,
            Duboule,D. and Di Lauro,R.
  TITLE     Regional expression of the homeobox gene Nkx-2.2 in the developing
            mammalian forebrain
  JOURNAL   Neuron 8 (2), 241-255 (1992)
   PUBMED   1346742
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133325.20, BC075092.2 and
            BU070383.1.
            On Jan 6, 2011 this sequence version replaced gi:32307133.
            
            Summary: The protein encoded by this gene contains a homeobox
            domain and may be involved in the morphogenesis of the central
            nervous system. This gene is found on chromosome 20 near NKX2-4,
            and these two genes appear to be duplicated on chromosome 14 in the
            form of TITF1 and NKX2-8. The encoded protein is likely to be a
            nuclear transcription factor. [provided by RefSeq, Jul 2008].
            
            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 :: BC075092.2, DA270398.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025082, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-329               AL133325.20        109257-109585       c
            330-1199            BC075092.2         1-870
            1200-1541           AL133325.20        107120-107461       c
            1542-2095           BU070383.1         1-554               c
FEATURES             Location/Qualifiers
     source          1..2095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.22"
     gene            1..2095
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="NK2 homeobox 2"
                     /db_xref="GeneID:4821"
                     /db_xref="HGNC:7835"
                     /db_xref="HPRD:05213"
                     /db_xref="MIM:604612"
     exon            1..616
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /inference="alignment:Splign:1.39.8"
     variation       283
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8192560"
     STS             308..1266
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /db_xref="UniSTS:480511"
     STS             330..1199
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /db_xref="UniSTS:482307"
     misc_feature    337..339
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="upstream in-frame stop codon"
     CDS             358..1179
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="NK-2 homolog B; NK2 transcription factor-like
                     protein B; homeobox protein NK-2 homolog B; NK2
                     transcription factor related, locus 2"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.2"
                     /protein_id="NP_002500.1"
                     /db_xref="GI:4505401"
                     /db_xref="CCDS:CCDS13145.1"
                     /db_xref="GeneID:4821"
                     /db_xref="HGNC:7835"
                     /db_xref="HPRD:05213"
                     /db_xref="MIM:604612"
                     /translation="

MSLTNTKTGFSVKDILDLPDTNDEEGSVAEGPEEENEGPEPAKRAGPLGQGALDAVQSLPLKNPFYDSSDNPYTRWLASTEGLQYSLHGLAAGAPPQDSSSKSPEPSADESPDNDKETPGGGGDAGKKRKRRVLFSKAQTYELERRFRQQRYLSAPEREHLASLIRLTPTQVKIWFQNHRYKMKRARAEKGMEVTPLPSPRRVAVPVLVRDGKPCHALKAQDLAAATFQAGIPFSAYSAQSLQHMQYNAQYSSASTPQYPTAHPLVQAQQWTW

"
     misc_feature    760..912
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /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(760..762,811..813,829..831,868..870,874..879,
                     886..891,895..903,907..912)
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(877..879,886..891,898..900)
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     STS             360..570
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /standard_name="Nkx2-2"
                     /db_xref="UniSTS:516529"
     variation       451
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:8192561"
     variation       478
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34329355"
     variation       481
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8192562"
     STS             515..1026
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /standard_name="Nkx2-2"
                     /db_xref="UniSTS:144023"
     exon            617..2085
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /inference="alignment:Splign:1.39.8"
     variation       722
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:8192563"
     STS             864..1051
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /standard_name="PMC123023P4"
                     /db_xref="UniSTS:270425"
     variation       1818
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201504278"
     polyA_signal    2054..2059
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
     polyA_site      2085
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
ORIGIN      

gcggccgccggagcccgagctgacgccgccttggcacccctcctggagttagaaactaaggccggggcccgcggcgctcggcgcgcaggccgcccggcttcctgcgtccatttccgcgtgctttcaaagaagacagagagaggcactgggttgggcttcatttttttcctccccatccccagtttctttctctttttaaaaataataattatcccaataattaaagccaattcccccctcccctcccccagtccctccccccaactcccccctcccccgcccgccggggcaggggagcgccacgaattgaccaagtgaagctacaactttgcgacataaattttggggtctcgaaccatgtcgctgaccaacacaaagacggggttttcggtcaaggacatcttagacctgccggacaccaacgatgaggagggctctgtggccgaaggtccggaggaagagaacgaggggcccgagccagccaagagggccgggccgctggggcagggcgccctggacgcggtgcagagcctgcccctgaagaaccccttctacgacagcagcgacaacccgtacacgcgctggctggccagcaccgagggccttcagtactccctgcacggtctggctgccggggcgccccctcaggactcaagctccaagtccccggagccctcggccgacgagtcaccggacaatgacaaggagaccccgggcggcgggggggacgccggcaagaagcgaaagcggcgagtgcttttctccaaggcgcagacctacgagctggagcggcgctttcggcagcagcggtacctgtcggcgcccgagcgcgaacacctggccagcctcatccgcctcacgcccacgcaggtcaagatctggttccagaaccaccgctacaagatgaagcgcgcccgggccgagaaaggtatggaggtgacgcccctgccctcgccgcgccgggtggccgtgcccgtcttggtcagggacggcaaaccatgtcacgcgctcaaagcccaggacctggcagccgccaccttccaggcgggcattcccttttctgcctacagcgcgcagtcgctgcagcacatgcagtacaacgcccagtacagctcggccagcaccccccagtacccgacagcacaccccctggtccaggcccagcagtggacttggtgagcgccgccccaacgagactcgcggccccaggcccaggccccaccccggcggcggtggcggcgaggaggcctcggtccttatggtggttattattattattataattattattatggagtcgagttgactctcggctccactagggaggcgccgggaggttgcctgcgtctccttggagtggcagattccacccacccagctctgcccatgcctctccttctgaaccttgggagagggctgaactctacgccgtgtttacagaatgtttgcgcagcttcgcttctttgcctctccccggggggaccaaaccgtcccagcgttaatgtcgtcacttgaaaacgagaaaaagaccgaccccccacccctgctttcgtgcattttgtaaaatatgtttgtgtgagtagcgatattgtcagccgtcttctaaagcaagtggagaacactttaaaaatacagagaatttcttcctttttttaaaaaaaaataagaaaatgctaaatatttatggccatgtaaacgttctgacaactggtggcagatttcgcttttcgttgtaaatatcggtggtgattgttgccaaaatgaccttcaggaccggcctgtttcccgtctgggtccaactcctttctttgtggcttgtttgggtttgttttttgttttgtttttgtttttgcgttttcccctgctttcttcctttctctttttattttattgtgcaaacatttctcaaatatggaaaagaaaaccctgtaggcagggagccctctgccctgtcctccgggccttcagccccgaacttggagctcagctattcggcgcggttccccaacagcgccgggcgcagaaagctttcgattttttaaataagaattttaataaaaatcctgtgtttaaaaaagaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:4821 -> Molecular function: GO:0001159 [core promoter proximal region DNA binding] evidence: ISS
            GeneID:4821 -> Molecular function: GO:0003682 [chromatin binding] evidence: ISS
            GeneID:4821 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:4821 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: ISS
            GeneID:4821 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IEA
            GeneID:4821 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:4821 -> Biological process: GO:0003323 [type B pancreatic cell development] evidence: IEA
            GeneID:4821 -> Biological process: GO:0003326 [pancreatic A cell fate commitment] evidence: IEA
            GeneID:4821 -> Biological process: GO:0003327 [type B pancreatic cell fate commitment] evidence: IEA
            GeneID:4821 -> Biological process: GO:0003329 [pancreatic PP cell fate commitment] evidence: IEA
            GeneID:4821 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:4821 -> Biological process: GO:0007224 [smoothened signaling pathway] evidence: IEA
            GeneID:4821 -> Biological process: GO:0007420 [brain development] evidence: TAS
            GeneID:4821 -> Biological process: GO:0014003 [oligodendrocyte development] evidence: IEA
            GeneID:4821 -> Biological process: GO:0021522 [spinal cord motor neuron differentiation] evidence: IEA
            GeneID:4821 -> Biological process: GO:0021530 [spinal cord oligodendrocyte cell fate specification] evidence: IEA
            GeneID:4821 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: TAS
            GeneID:4821 -> Biological process: GO:0045665 [negative regulation of neuron differentiation] evidence: IEA
            GeneID:4821 -> Biological process: GO:0045666 [positive regulation of neuron differentiation] evidence: IEA
            GeneID:4821 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:4821 -> Biological process: GO:0048565 [digestive tract development] evidence: IEA
            GeneID:4821 -> Biological process: GO:0048665 [neuron fate specification] evidence: IEA
            GeneID:4821 -> Biological process: GO:0048708 [astrocyte differentiation] evidence: IEA
            GeneID:4821 -> Biological process: GO:0048714 [positive regulation of oligodendrocyte differentiation] evidence: IEA
            GeneID:4821 -> Biological process: GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] evidence: ISS
            GeneID:4821 -> Biological process: GO:0060580 [ventral spinal cord interneuron fate determination] evidence: IEA
            GeneID:4821 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS