LOCUS       NM_004387               1558 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA.
ACCESSION   NM_004387
VERSION     NM_004387.4
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 1558)
  AUTHORS   Pena-Martinez,E.G., Pomales-Matos,D.A., Rivera-Madera,A.,
            Messon-Bird,J.L., Medina-Feliciano,J.G., Sanabria-Alberto,L.,
            Barreiro-Rosario,A.C., Rivera-Del Valle,J., Rodriguez-Rios,J.M. and
            Rodriguez-Martinez,J.A.
  TITLE     Prioritizing cardiovascular disease-associated variants altering
            NKX2-5 and TBX5 binding through an integrative computational
            approach
  JOURNAL   J Biol Chem 299 (12), 105423 (2023)
   PUBMED   37926287
  REMARK    GeneRIF: Prioritizing cardiovascular disease-associated variants
            altering NKX2-5 and TBX5 binding through an integrative
            computational approach.
REFERENCE   2  (bases 1 to 1558)
  AUTHORS   Maven,B.E.J., Gifford,C.A., Weilert,M., Gonzalez-Teran,B.,
            Huttenhain,R., Pelonero,A., Ivey,K.N., Samse-Knapp,K., Kwong,W.,
            Gordon,D., McGregor,M., Nishino,T., Okorie,E., Rossman,S.,
            Costa,M.W., Krogan,N.J., Zeitlinger,J. and Srivastava,D.
  TITLE     The multi-lineage transcription factor ISL1 controls cardiomyocyte
            cell fate through interaction with NKX2.5
  JOURNAL   Stem Cell Reports 18 (11), 2138-2153 (2023)
   PUBMED   37863045
  REMARK    GeneRIF: The multi-lineage transcription factor ISL1 controls
            cardiomyocyte cell fate through interaction with NKX2.5.
REFERENCE   3  (bases 1 to 1558)
  AUTHORS   Disse,P., Aymanns,I., Mucher,L., Sandmann,S., Varghese,J.,
            Ritter,N., Strutz-Seebohm,N., Seebohm,G. and Peischard,S.
  TITLE     Knockout of the Cardiac Transcription Factor NKX2-5 Results in Stem
            Cell-Derived Cardiac Cells with Typical Purkinje Cell-like Signal
            Transduction and Extracellular Matrix Formation
  JOURNAL   Int J Mol Sci 24 (17), 13366 (2023)
   PUBMED   37686171
  REMARK    GeneRIF: Knockout of the Cardiac Transcription Factor NKX2-5
            Results in Stem Cell-Derived Cardiac Cells with Typical Purkinje
            Cell-like Signal Transduction and Extracellular Matrix Formation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1558)
  AUTHORS   Ashiq,S. and Sabar,M.F.
  TITLE     Association of maternal hypertension and diabetes with variants of
            the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital
            heart defects: a case-control study from Pakistani Population
  JOURNAL   Mol Biol Rep 50 (6), 5013-5020 (2023)
   PUBMED   37097539
  REMARK    GeneRIF: Association of maternal hypertension and diabetes with
            variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with
            congenital heart defects: a case-control study from Pakistani
            Population.
REFERENCE   5  (bases 1 to 1558)
  AUTHORS   Pena-Martinez,E.G., Rivera-Madera,A., Pomales-Matos,D.A.,
            Sanabria-Alberto,L., Rosario-Canuelas,B.M., Rodriguez-Rios,J.M.,
            Carrasquillo-Dones,E.A. and Rodriguez-Martinez,J.A.
  TITLE     Disease-associated non-coding variants alter NKX2-5 DNA-binding
            affinity
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1866 (1), 194906 (2023)
   PUBMED   36690178
  REMARK    GeneRIF: Disease-associated non-coding variants alter NKX2-5
            DNA-binding affinity.
REFERENCE   6  (bases 1 to 1558)
  AUTHORS   Schott,J.J., Benson,D.W., Basson,C.T., Pease,W., Silberbach,G.M.,
            Moak,J.P., Maron,B.J., Seidman,C.E. and Seidman,J.G.
  TITLE     Congenital heart disease caused by mutations in the transcription
            factor NKX2-5
  JOURNAL   Science 281 (5373), 108-111 (1998)
   PUBMED   9651244
REFERENCE   7  (bases 1 to 1558)
  AUTHORS   Durocher,D., Charron,F., Warren,R., Schwartz,R.J. and Nemer,M.
  TITLE     The cardiac transcription factors Nkx2-5 and GATA-4 are mutual
            cofactors
  JOURNAL   EMBO J 16 (18), 5687-5696 (1997)
   PUBMED   9312027
REFERENCE   8  (bases 1 to 1558)
  AUTHORS   Chen,C.Y. and Schwartz,R.J.
  TITLE     Recruitment of the tinman homolog Nkx-2.5 by serum response factor
            activates cardiac alpha-actin gene transcription
  JOURNAL   Mol Cell Biol 16 (11), 6372-6384 (1996)
   PUBMED   8887666
REFERENCE   9  (bases 1 to 1558)
  AUTHORS   Turbay,D., Wechsler,S.B., Blanchard,K.M. and Izumo,S.
  TITLE     Molecular cloning, chromosomal mapping, and characterization of the
            human cardiac-specific homeobox gene hCsx
  JOURNAL   Mol Med 2 (1), 86-96 (1996)
   PUBMED   8900537
REFERENCE   10 (bases 1 to 1558)
  AUTHORS   Shiojima,I., Komuro,I., Inazawa,J., Nakahori,Y., Matsushita,I.,
            Abe,T., Nagai,R. and Yazaki,Y.
  TITLE     Assignment of cardiac homeobox gene CSX to human chromosome 5q34
  JOURNAL   Genomics 27 (1), 204-206 (1995)
   PUBMED   7665173
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA559427.1 and BC025711.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004387.3.
            
            Summary: This gene encodes a homeobox-containing transcription
            factor. This transcription factor functions in heart formation and
            development. Mutations in this gene cause atrial septal defect with
            atrioventricular conduction defect, and also tetralogy of Fallot,
            which are both heart malformation diseases. Mutations in this gene
            can also cause congenital hypothyroidism non-goitrous type 5, a
            non-autoimmune condition. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript but encodes the longest isoform (1).
            
            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 :: BC025711.1, U34962.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2151741
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329198.5/ ENSP00000327758.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DA559427.1         107-122
            17-1558             BC025711.1         1-1542
FEATURES             Location/Qualifiers
     source          1..1558
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..1558
                     /gene="NKX2-5"
                     /gene_synonym="CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E;
                     NKX4-1; VSD3"
                     /note="NK2 homeobox 5"
                     /db_xref="GeneID:1482"
                     /db_xref="HGNC:HGNC:2488"
                     /db_xref="MIM:600584"
     exon            1..457
                     /gene="NKX2-5"
                     /gene_synonym="CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E;
                     NKX4-1; VSD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..1098
                     /gene="NKX2-5"
                     /gene_synonym="CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E;
                     NKX4-1; VSD3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tinman paralog; homeobox protein Nkx-2.5; cardiac-specific
                     homeobox 1; tinman homolog; homeobox protein NK-2 homolog
                     E; homeobox protein CSX; NK2 transcription factor related,
                     locus 5; NKX 2-5; homeobox protein NKX 2-5"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.5 isoform 1"
                     /protein_id="NP_004378.1"
                     /db_xref="CCDS:CCDS4387.1"
                     /db_xref="GeneID:1482"
                     /db_xref="HGNC:HGNC:2488"
                     /db_xref="MIM:600584"
                     /translation="MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPS
                     SCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDP
                     AKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ
                     RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRI
                     AVPVLVRDGKPCLGDSAPYAPAYGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPA
                     GPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHGIRAW"
     exon            458..1558
                     /gene="NKX2-5"
                     /gene_synonym="CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E;
                     NKX4-1; VSD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1540..1545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX2-5"
                     /gene_synonym="CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E;
                     NKX4-1; VSD3"
                     /note="hexamer: ATTAAA"
     polyA_site      1558
                     /gene="NKX2-5"
                     /gene_synonym="CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E;
                     NKX4-1; VSD3"
                     /note="major polyA site"
ORIGIN      
        1 acatccagag ctggccgacg ggtgcgcggg cgggcggcgg caccatgcag ggaagctgcc
       61 aggggccgtg ggcagcgccg ctttctgccg cccacctggc gctgtgagac tggcgctgcc
      121 accatgttcc ccagccctgc tctcacgccc acgcccttct cagtcaaaga catcctaaac
      181 ctggaacagc agcagcgcag cctggctgcc gccggagagc tctctgcccg cctggaggcg
      241 accctggcgc cctcctcctg catgctggcc gccttcaagc cagaggccta cgctgggccc
      301 gaggcggctg cgccgggcct cccagagctg cgcgcagagc tgggccgcgc gccttcaccg
      361 gccaagtgtg cgtctgcctt tcccgccgcc cccgccttct atccacgtgc ctacagcgac
      421 cccgacccag ccaaggaccc tagagccgaa aagaaagagc tgtgcgcgct gcagaaggcg
      481 gtggagctgg agaagacaga ggcggacaac gcggagcggc cccgggcgcg acggcggagg
      541 aagccgcgcg tgctcttctc gcaggcgcag gtctatgagc tggagcggcg cttcaagcag
      601 cagcggtacc tgtcggcccc cgaacgcgac cagctggcca gcgtgctgaa actcacgtcc
      661 acgcaggtca agatctggtt ccagaaccgg cgctacaagt gcaagcggca gcggcaggac
      721 cagactctgg agctggtggg gctgcccccg ccgccgccgc cgcctgcccg caggatcgcg
      781 gtgccagtgc tggtgcgcga tggcaagcca tgcctagggg actcggcgcc ctacgcgcct
      841 gcctacggcg tgggcctcaa tccctacggt tataacgcct accccgccta tccgggttac
      901 ggcggcgcgg cctgcagccc tggctacagc tgcactgccg cttaccccgc cgggccttcc
      961 ccagcgcagc cggccactgc cgccgccaac aacaacttcg tgaacttcgg cgtcggggac
     1021 ttgaatgcgg ttcagagccc cgggattccg cagagcaact cgggagtgtc cacgctgcat
     1081 ggtatccgag cctggtaggg aagggacccg cgtggcgcga ccctgaccga tcccacctca
     1141 acagctccct gactctcggg gggagaaggg gctcccaaca tgaccctgag tcccctggat
     1201 tttgcattca ctcctgcgga gacctaggaa ctttttctgt cccacgcgcg tttgttcttg
     1261 cgcacgggag agtttgtggc ggcgattatg cagcgtgcaa tgagtgatcc tgcagcctgg
     1321 tgtcttagct gtccccccag gagtgccctc cgagagtcca tgggcacccc cggttggaac
     1381 tgggactgag ctcgggcacg cagggcctga gatctggccg cccattccgc gagccagggc
     1441 cgggcgcccg ggcctttgct atctcgccgt cgcccgccca cgcacccacc cgtatttatg
     1501 tttttaccta ttgctgtaag aaatgacgat ccccttccca ttaaagagag tgcgttga
//
