LOCUS       NM_145285               2088 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens NK2 homeobox 3 (NKX2-3), mRNA.
ACCESSION   NM_145285
VERSION     NM_145285.3
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 2088)
  AUTHORS   Gabris,F., Kajtar,B., Kellermayer,Z. and Balogh,P.
  TITLE     Quantitative Analysis of NKX2-3 Expression in Human Colon: An
            Immunohistochemical Study
  JOURNAL   J Histochem Cytochem 72 (1), 11-23 (2024)
   PUBMED   38063211
  REMARK    GeneRIF: Quantitative Analysis of NKX2-3 Expression in Human Colon:
            An Immunohistochemical Study.
REFERENCE   2  (bases 1 to 2088)
  AUTHORS   Hu,M., Chen,N., Chen,M., Chen,F., Lu,Y., Xu,Y., Yang,L., Zeng,H.,
            Shen,M., Chen,X., Chen,S., Wang,F., Wang,S. and Wang,J.
  TITLE     Transcription factor Nkx2-3 maintains the self-renewal of
            hematopoietic stem cells by regulating mitophagy
  JOURNAL   Leukemia 37 (6), 1361-1374 (2023)
   PUBMED   37095209
  REMARK    GeneRIF: Transcription factor Nkx2-3 maintains the self-renewal of
            hematopoietic stem cells by regulating mitophagy.
REFERENCE   3  (bases 1 to 2088)
  AUTHORS   Nagel,S., Pommerenke,C., Meyer,C. and MacLeod,R.A.F.
  TITLE     NKL Homeobox Genes NKX2-3 and NKX2-4 Deregulate
            Megakaryocytic-Erythroid Cell Differentiation in AML
  JOURNAL   Int J Mol Sci 22 (21), 11434 (2021)
   PUBMED   34768865
  REMARK    GeneRIF: NKL Homeobox Genes NKX2-3 and NKX2-4 Deregulate
            Megakaryocytic-Erythroid Cell Differentiation in AML.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2088)
  AUTHORS   Liu,C., Wu,W., Xu,M., Mi,J., Xu,L. and Wang,R.
  TITLE     Development and Validation of an Autophagy-Related Signature for
            Head and Neck Squamous Cell Carcinoma
  JOURNAL   Biomed Res Int 2021, 1028158 (2021)
   PUBMED   34423028
  REMARK    GeneRIF: Development and Validation of an Autophagy-Related
            Signature for Head and Neck Squamous Cell Carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2088)
  AUTHORS   Burlet,B., Ramla,S., Fournier,C., Abrey-Recalde,M.J., Sauter,C.,
            Chretien,M.L., Rossi,C., Duffourd,Y., Ragot,S., Buriller,C.,
            Tournier,B., Chapusot,C., Nadal,N., Racine,J., Guy,J., Bailly,F.,
            Martin,L., Casasnovas,O., Bastie,J.N., Caillot,D., Albuisson,J.,
            Broccardo,C., Thieblemont,C., Delva,L., Maynadie,M., Aucagne,R. and
            Callanan,M.B.
  TITLE     Identification of novel, clonally stable, somatic mutations
            targeting transcription factors PAX5 and NKX2-3, the epigenetic
            regulator LRIF1, and BRAF in a case of atypical B-cell chronic
            lymphocytic leukemia harboring a t(14;18)(q32;q21)
  JOURNAL   Cold Spring Harb Mol Case Stud 7 (1), a005934 (2021)
   PUBMED   33608382
  REMARK    GeneRIF: Identification of novel, clonally stable, somatic
            mutations targeting transcription factors PAX5 and NKX2-3, the
            epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell
            chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2088)
  AUTHORS   Parkes,M., Barrett,J.C., Prescott,N.J., Tremelling,M.,
            Anderson,C.A., Fisher,S.A., Roberts,R.G., Nimmo,E.R.,
            Cummings,F.R., Soars,D., Drummond,H., Lees,C.W., Khawaja,S.A.,
            Bagnall,R., Burke,D.A., Todhunter,C.E., Ahmad,T., Onnie,C.M.,
            McArdle,W., Strachan,D., Bethel,G., Bryan,C., Lewis,C.M.,
            Deloukas,P., Forbes,A., Sanderson,J., Jewell,D.P., Satsangi,J.,
            Mansfield,J.C., Cardon,L. and Mathew,C.G.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Sequence variants in the autophagy gene IRGM and multiple other
            replicating loci contribute to Crohn's disease susceptibility
  JOURNAL   Nat Genet 39 (7), 830-832 (2007)
   PUBMED   17554261
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2088)
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study of 14,000 cases of seven common
            diseases and 3,000 shared controls
  JOURNAL   Nature 447 (7145), 661-678 (2007)
   PUBMED   17554300
REFERENCE   8  (bases 1 to 2088)
  AUTHORS   Biben,C., Wang,C.C. and Harvey,R.P.
  TITLE     NK-2 class homeobox genes and pharyngeal/oral patterning: Nkx2-3 is
            required for salivary gland and tooth morphogenesis
  JOURNAL   Int J Dev Biol 46 (4), 415-422 (2002)
   PUBMED   12141427
REFERENCE   9  (bases 1 to 2088)
  AUTHORS   Phiel,C.J., Gabbeta,V., Parsons,L.M., Rothblat,D., Harvey,R.P. and
            McHugh,K.M.
  TITLE     Differential binding of an SRF/NK-2/MEF2 transcription factor
            complex in normal versus neoplastic smooth muscle tissues
  JOURNAL   J Biol Chem 276 (37), 34637-34650 (2001)
   PUBMED   11457859
REFERENCE   10 (bases 1 to 2088)
  AUTHORS   Harvey,R.P.
  TITLE     NK-2 homeobox genes and heart development
  JOURNAL   Dev Biol 178 (2), 203-216 (1996)
   PUBMED   8812123
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI764885.1, BC025788.1 and
            AL353719.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_145285.2.
            
            Summary: This gene encodes a homeodomain-containing transcription
            factor. The encoded protein is a member of the NKX family of
            homeodomain transcription factors. Studies of similar proteins in
            mouse and rat have indicated a potential role in cellular
            differentiation.[provided by RefSeq, Mar 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 :: DA935495.1, AK300856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344586.9/ ENSP00000342828.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BI764885.1         10-20
            12-998              BC025788.1         1-987
            999-1095            AL353719.10        7057-7153
            1096-2088           BC025788.1         988-1980
FEATURES             Location/Qualifiers
     source          1..2088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..2088
                     /gene="NKX2-3"
                     /gene_synonym="CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3"
                     /note="NK2 homeobox 3"
                     /db_xref="GeneID:159296"
                     /db_xref="HGNC:HGNC:7836"
                     /db_xref="MIM:606727"
     exon            1..548
                     /gene="NKX2-3"
                     /gene_synonym="CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..1285
                     /gene="NKX2-3"
                     /gene_synonym="CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3"
                     /note="homeobox protein NK-2 homolog C; NK2 transcription
                     factor related, locus 3"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.3"
                     /protein_id="NP_660328.2"
                     /db_xref="CCDS:CCDS41558.1"
                     /db_xref="GeneID:159296"
                     /db_xref="HGNC:HGNC:7836"
                     /db_xref="MIM:606727"
                     /translation="MMLPSPVTSTPFSVKDILNLEQQHQHFHGAHLQADLEHHFHSAP
                     CMLAAAEGTQFSDGGEEDEEDEGEKLSYLNSLAAADGHGDSGLCPQGYVHTVLRDSCS
                     EPKEHEEEPEVVRDRSQKSCQLKKSLETAGDCKAAEESERPKPRSRRKPRVLFSQAQV
                     FELERRFKQQRYLSAPEREHLASSLKLTSTQVKIWFQNRRYKCKRQRQDKSLELGAHA
                     PPPPPRRVAVPVLVRDGKPCVTPSAQAYGAPYSVGASAYSYNSFPAYGYGNSAAAAAA
                     AAAAAAAAAAYSSSYGCAYPAGGGGGGGGTSAATTAMQPACSAAGGGPFVNVSNLGGF
                     GSGGSAQPLHQGTAAGAACAQGTLQGIRAW"
     exon            549..2088
                     /gene="NKX2-3"
                     /gene_synonym="CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2067..2072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX2-3"
                     /gene_synonym="CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3"
                     /note="hexamer: AACAAG"
     polyA_site      2088
                     /gene="NKX2-3"
                     /gene_synonym="CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3"
                     /note="major polyA site"
ORIGIN      
        1 agtggctgta acaaaaccca gacccccagg tcccggccaa tggaggcgat ttagactgga
       61 gtgggaccgc gtctgtcaaa agcccgactc ggcagcagcg gcggagtcca ggaggagagc
      121 tggagccgcc gcgctgcctc cccgcccccg ccgggattta ttatttggac tggacaatta
      181 agtggccctg atgatgttac caagcccggt cacctccacc cctttctcag tcaaagacat
      241 tttgaatctg gagcagcagc accagcactt ccatggtgcg cacttgcagg cggacttgga
      301 gcaccacttc cactctgcgc cctgcatgct ggccgccgct gaggggacgc aattttctga
      361 cggaggggag gaggacgagg aagacgaggg cgagaaattg tcctatttga actcactagc
      421 cgcagcagac ggccacgggg attcagggct gtgtccccag ggctatgtcc acacggtcct
      481 gcgagactcg tgcagcgagc ccaaggaaca tgaagaggag cccgaggtcg tgagggaccg
      541 gagccaaaaa agctgccagc tgaagaagtc tctagagacg gccggagact gcaaggcggc
      601 ggaggagagc gagaggccga agccacgcag ccgccggaag ccccgggtcc tcttctcgca
      661 agcccaggtc ttcgagctgg aacgcaggtt caagcagcag cggtacctgt cggcacccga
      721 gcgcgagcac ctcgccagca gcctgaagct cacatccact caggtgaaaa tctggttcca
      781 gaatcgcagg tacaagtgca agagacagcg gcaggacaag tctctggagc ttggcgcaca
      841 cgcgcccccg ccgccgccgc gccgcgtggc tgtcccggtg ctggtgcggg acggcaagcc
      901 gtgcgtcacg cccagcgcgc aggcctacgg cgcgccctac agcgtgggcg ccagcgccta
      961 ctcctacaac agcttccccg cctacggcta tgggaactcg gccgcggccg ccgccgccgc
     1021 cgccgccgcc gccgcagcag cggcggccta cagcagcagc tatggctgtg cgtacccggc
     1081 gggcggcggc ggcggcggcg gcgggacctc cgcggcgacc actgccatgc agcccgcctg
     1141 cagcgcggcc ggaggcggcc cctttgtgaa cgtgagcaac ctaggaggct tcggcagcgg
     1201 cggcagcgca cagccgttgc accagggtac tgcagccggg gccgcgtgcg ctcagggcac
     1261 cttgcagggc atccgggcct ggtagggacg gggcgggtca cgcggcgggc accccagcgc
     1321 agcctggcgc cgcgggactg aagctcgaga agggcctgac ctaaaggtca ggtcccctcg
     1381 ttaaaaaaat atgtacgtct agctcctcag ggcttcggat cgcagctcac tcgaggcctg
     1441 gggaagggga ctcaggggcg aggaggatga ctgggtccgg tcgccaggac tgtctctgag
     1501 gcagaaacgc cggctgggcg ccggggagga cgatggcccc gaccctggca gcgagaggag
     1561 accaggaggc taggaccctg gccgcgcttg gttcttccaa agcgagaagg gcttctctcc
     1621 ctctgccttt ccgcggcctc cgcgaagcgt tggcggggag cccaaggaca taacaaatta
     1681 aaagcatgaa ggagagaaaa atgggggtcg tggcttgaga aattccaggc cctaccgatc
     1741 ctctgccccc tttgcgggcc tggagcgcca tagcacagtc gatttcgttt cgcagctgtc
     1801 tcccctccgc agcagatacc tcggtccaga tctccggatt gtcgggggac gcaggactct
     1861 tcgaggaaaa ccagccgaat gagatcaaaa gttgggggtg gggggaggct gaacaaactc
     1921 aggacctggt ggcccaccgg aggtgttacc gggtttcctt tctgtttcgt attctgtatt
     1981 cagcacatgt tatctatcta tctatctata taactataac cacacgccgt gtagacaccc
     2041 gctgccacac actacaggag tcaataaaca aggtgcaata ttttcaaa
//
