LOCUS       NM_001424412            2298 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens NK2 homeobox 2 (NKX2-2), transcript variant 3, mRNA.
ACCESSION   NM_001424412 XM_047440151 XM_054323456
VERSION     NM_001424412.1
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 2298)
  AUTHORS   Kavitha,B., Srikanth,K., Singh,D., Gopi,S., Mohan,V., Chandra,N.
            and Radha,V.
  TITLE     A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal
            diabetes mellitus: molecular characterization and structural
            analysis
  JOURNAL   Acta Diabetol 61 (2), 189-194 (2024)
   PUBMED   37821536
  REMARK    GeneRIF: A novel stop-loss mutation in NKX2-2 gene as a cause of
            neonatal diabetes mellitus: molecular characterization and
            structural analysis.
REFERENCE   2  (bases 1 to 2298)
  AUTHORS   Machado,I., Charville,G.W., Yoshida,A., Navarro,S., Righi,A.,
            Gambarotti,M., Scotlandi,K., Lopez-Guerrero,J.A. and
            Llombart-Bosch,A.
  TITLE     Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have
            prognostic significance?
  JOURNAL   Virchows Arch 480 (4), 909-917 (2022)
   PUBMED   34985580
  REMARK    GeneRIF: Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma
            have prognostic significance?
REFERENCE   3  (bases 1 to 2298)
  AUTHORS   Yun,W., Kim,I.Y., Song,G. and You,S.
  TITLE     Rapid induction of gliogenesis in OLIG2 and NKX2.2-expressing
            progenitors-derived spheroids
  JOURNAL   Stem Cells Transl Med 9 (12), 1643-1650 (2020)
   PUBMED   32716131
  REMARK    GeneRIF: Rapid induction of gliogenesis in OLIG2 and
            NKX2.2-expressing progenitors-derived spheroids.
REFERENCE   4  (bases 1 to 2298)
  AUTHORS   Tanaka,A., Watanabe,A., Nakano,Y., Matsumoto,M., Okazaki,Y. and
            Miyajima,A.
  TITLE     Reversible expansion of pancreatic islet progenitors derived from
            human induced pluripotent stem cells
  JOURNAL   Genes Cells 25 (5), 302-311 (2020)
   PUBMED   32065490
  REMARK    GeneRIF: Reversible expansion of pancreatic islet progenitors
            derived from human induced pluripotent stem cells.
REFERENCE   5  (bases 1 to 2298)
  AUTHORS   Fleming,J.T., Brignola,E., Chen,L., Guo,Y., Zhao,S., Wang,Q.,
            Li,B., Correa,H., Ermilov,A.N., Dlugosz,A.A. and Chiang,C.
  TITLE     Insight into the Etiology of Undifferentiated Soft Tissue Sarcomas
            from a Novel Mouse Model
  JOURNAL   Mol Cancer Res 17 (5), 1024-1035 (2019)
   PUBMED   30683671
  REMARK    GeneRIF: Study found that activation of Gli2 transcription factor
            induces the expression of Nkx2.2. inducing Ewing-like sarcomas.
REFERENCE   6  (bases 1 to 2298)
  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   7  (bases 1 to 2298)
  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   8  (bases 1 to 2298)
  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   9  (bases 1 to 2298)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   10 (bases 1 to 2298)
  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.
            
            On or before Sep 22, 2023 this sequence version replaced
            XM_047440151.1, XM_054323456.1.
            
            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].
            
            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 :: SRR14038193.472265.1,
                                           SRR14038196.105406.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AL133325.20        118124-118248       c
            126-829             AL133325.20        108970-109673       c
            830-2298            AL133325.20        106576-108044       c
FEATURES             Location/Qualifiers
     source          1..2298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.22"
     gene            1..2298
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="NK2 homeobox 2"
                     /db_xref="GeneID:4821"
                     /db_xref="HGNC:HGNC:7835"
                     /db_xref="MIM:604612"
     exon            1..125
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /inference="alignment:Splign:2.1.0"
     exon            126..829
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    550..552
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="upstream in-frame stop codon"
     CDS             571..1392
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="isoform 1 is encoded by transcript variant 3; NK2
                     transcription factor-like protein B; homeobox protein NK-2
                     homolog B; homeobox protein Nkx-2.2; NK2 transcription
                     factor related, locus 2"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.2 isoform 1"
                     /protein_id="NP_001411341.1"
                     /db_xref="GeneID:4821"
                     /db_xref="HGNC:HGNC:7835"
                     /db_xref="MIM:604612"
                     /translation="

MSLTNTKTGFSVKDILDLPDTNDEEGSVAEGPEEENEGPEPAKRAGPLGQGALDAVQSLPLKNPFYDSSDNPYTRWLASTEGLQYSLHGLAAGAPPQDSSSKSPEPSADESPDNDKETPGGGGDAGKKRKRRVLFSKAQTYELERRFRQQRYLSAPEREHLASLIRLTPTQVKIWFQNHRYKMKRARAEKGMEVTPLPSPRRVAVPVLVRDGKPCHALKAQDLAAATFQAGIPFSAYSAQSLQHMQYNAQYSSASTPQYPTAHPLVQAQQWTW"

     misc_feature    571..738
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O95096.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    838..963
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="propagated from UniProtKB/Swiss-Prot (O95096.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    955..1125
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /note="Region: Homeodomain; pfam00046"
                     /db_xref="CDD:459649"
     exon            830..2298
                     /gene="NKX2-2"
                     /gene_synonym="NKX2.2; NKX2B"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      

gccggccgcgtcgagccgccgcccgaccgcccgcgactccgcagccgcccgcgactcgggataaagagcggccgggacctgcgcgctcgcccagccgaggctccagcggcgcagtcgcgctccaggttcgtgagtggagcccagccttatatggactgatcgctcgggcaatggcccattttttcctcgccaccagccgccaccgcgcgccgagcggccgccggagcccgagctgacgccgccttggcacccctcctggagttagaaactaaggccggggcccgcggcgctcggcgcgcaggccgcccggcttcctgcgtccatttccgcgtgctttcaaagaagacagagagaggcactgggttgggcttcatttttttcctccccatccccagtttctttctctttttaaaaataataattatcccaataattaaagccaattcccccctcccctcccccagtccctccccccaactcccccctcccccgcccgccggggcaggggagcgccacgaattgaccaagtgaagctacaactttgcgacataaattttggggtctcgaaccatgtcgctgaccaacacaaagacggggttttcggtcaaggacatcttagacctgccggacaccaacgatgaggagggctctgtggccgaaggtccggaggaagagaacgaggggcccgagccagccaagagggccgggccgctggggcagggcgccctggacgcggtgcagagcctgcccctgaagaaccccttctacgacagcagcgacaacccgtacacgcgctggctggccagcaccgagggccttcagtactccctgcacggtctggctgccggggcgccccctcaggactcaagctccaagtccccggagccctcggccgacgagtcaccggacaatgacaaggagaccccgggcggcgggggggacgccggcaagaagcgaaagcggcgagtgcttttctccaaggcgcagacctacgagctggagcggcgctttcggcagcagcggtacctgtcggcgcccgagcgcgaacacctggccagcctcatccgcctcacgcccacgcaggtcaagatctggttccagaaccaccgctacaagatgaagcgcgcccgggccgagaaaggtatggaggtgacgcccctgccctcgccgcgccgggtggccgtgcccgtcttggtcagggacggcaaaccatgtcacgcgctcaaagcccaggacctggcagccgccaccttccaggcgggcattcccttttctgcctacagcgcgcagtcgctgcagcacatgcagtacaacgcccagtacagctcggccagcaccccccagtacccgacagcacaccccctggtccaggcccagcagtggacttggtgagcgccgccccaacgagactcgcggccccaggcccaggccccaccccggcggcggtggcggcgaggaggcctcggtccttatggtggttattattattattataattattattatggagtcgagttgactctcggctccactagggaggcgccgggaggttgcctgcgtctccttggagtggcagattccacccacccagctctgcccatgcctctccttctgaaccttgggagagggctgaactctacgccgtgtttacagaatgtttgcgcagcttcgcttctttgcctctccccggggggaccaaaccgtcccagcgttaatgtcgtcacttgaaaacgagaaaaagaccgaccccccacccctgctttcgtgcattttgtaaaatatgtttgtgtgagtagcgatattgtcagccgtcttctaaagcaagtggagaacactttaaaaatacagagaatttcttcctttttttaaaaaaaaataagaaaatgctaaatatttatggccatgtaaacgttctgacaactggtggcagatttcgcttttcgttgtaaatatcggtggtgattgttgccaaaatgaccttcaggaccggcctgtttcccgtctgggtccaactcctttctttgtggcttgtttgggtttgttttttgttttgtttttgtttttgcgttttcccctgctttcttcctttctctttttattttattgtgcaaacatttctcaaatatggaaaagaaaaccctgtaggcagggagccctctgccctgtcctccgggccttcagccccgaacttggagctcagctattcggcgcggttccccaacagcgccgggcgcagaaagctttcgattttttaaataagaattttaataaaaatcctgtgtttaaaaaagaaaaaaa

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