LOCUS       NM_033176               1738 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.
ACCESSION   NM_033176 XM_927653 XM_940179
VERSION     NM_033176.2
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 1738)
  AUTHORS   Derrien,A.C., Houy,A., Ganier,O., Dingli,F., Ningarhari,M.,
            Mobuchon,L., Espejo Diaz,M.I., Loew,D., Cassoux,N., Cussenot,O.,
            Cancel-Tassin,G., Margueron,R., Noirel,J., Zucman-Rossi,J.,
            Rodrigues,M. and Stern,M.H.
  TITLE     Functional characterization of 5p15.33 risk locus in uveal melanoma
            reveals rs452384 as a functional variant and NKX2.4 as an
            allele-specific interactor
  JOURNAL   Am J Hum Genet 109 (12), 2196-2209 (2022)
   PUBMED   36459980
  REMARK    GeneRIF: Functional characterization of 5p15.33 risk locus in uveal
            melanoma reveals rs452384 as a functional variant and NKX2.4 as an
            allele-specific interactor.
REFERENCE   2  (bases 1 to 1738)
  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   3  (bases 1 to 1738)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1738)
  AUTHORS   Chung,S.A., Brown,E.E., Williams,A.H., Ramos,P.S., Berthier,C.C.,
            Bhangale,T., Alarcon-Riquelme,M.E., Behrens,T.W., Criswell,L.A.,
            Graham,D.C., Demirci,F.Y., Edberg,J.C., Gaffney,P.M., Harley,J.B.,
            Jacob,C.O., Kamboh,M.I., Kelly,J.A., Manzi,S., Moser-Sivils,K.L.,
            Russell,L.P., Petri,M., Tsao,B.P., Vyse,T.J., Zidovetzki,R.,
            Kretzler,M., Kimberly,R.P., Freedman,B.I., Graham,R.R. and
            Langefeld,C.D.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   5  (bases 1 to 1738)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (bases 1 to 1738)
  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 1738)
  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 1738)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL158013.25.
            
            On Nov 22, 2018 this sequence version replaced NM_033176.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351817.5/ ENSP00000345147.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-569               AL158013.25        43546-44114         c
            570-1738            AL158013.25        41953-43121         c
FEATURES             Location/Qualifiers
     source          1..1738
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.22"
     gene            1..1738
                     /gene="NKX2-4"
                     /gene_synonym="NKX2.4; NKX2D"
                     /note="NK2 homeobox 4"
                     /db_xref="GeneID:644524"
                     /db_xref="HGNC:HGNC:7837"
                     /db_xref="MIM:607808"
     exon            1..569
                     /gene="NKX2-4"
                     /gene_synonym="NKX2.4; NKX2D"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1192
                     /gene="NKX2-4"
                     /gene_synonym="NKX2.4; NKX2D"
                     /note="NK2 transcription factor homolog D; NK2
                     transcription factor related, locus 4"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.4"
                     /protein_id="NP_149416.1"
                     /db_xref="CCDS:CCDS42855.1"
                     /db_xref="GeneID:644524"
                     /db_xref="HGNC:HGNC:7837"
                     /db_xref="MIM:607808"
                     /translation="MSLSPKHTTPFSVSDILSPIEETYKKFSGAMDGAPPGLGAPLGA
                     AAAYRAPPPGPSSQAATVAGMQPSHAMAGHNAAAAAAAAAAAAAAAATYHMPPGVSQF
                     PHGAMGSYCNGGLGNMGELPAYTDGMRGGAATGWYGANPDPRYSSISRFMGPSAGVNV
                     AGMGSLTGIADAAKSLGPLHAAAAAAAPRRKRRVLFSQAQVYELERRFKQQKYLSAPE
                     REHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQLQQEGGLGPPPPPPPSPRRVA
                     VPVLVKDGKPCQNGASTPTPGQAGPQPPAPTPAPELEELSPSPPALHGPGGGLAALDA
                     AAGEYSGGVLGANLLYGRTW"
     exon            570..1738
                     /gene="NKX2-4"
                     /gene_synonym="NKX2.4; NKX2D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1713..1718
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX2-4"
                     /gene_synonym="NKX2.4; NKX2D"
                     /note="hexamer: AATAGA"
     polyA_site      1738
                     /gene="NKX2-4"
                     /gene_synonym="NKX2.4; NKX2D"
ORIGIN      
        1 ggggctcgcc gagccgccga ctcctcgtca caggctcagc tgccgcggcc gaggtggcgg
       61 cgacgagcgg ccgccgcgtc ctgccggcgc gcgccccagg cccccctacc tggctgcccg
      121 ccgagccatg tcgttgagcc caaagcacac gacgcccttc tccgtgtccg acatcctgag
      181 ccccatcgag gagacctaca agaagttcag cggcgccatg gacggcgcgc cacccggcct
      241 gggggcgccc ctgggggccg cggccgccta ccgcgcgccg ccacctgggc cctcctcgca
      301 ggcggcgacc gtggcgggca tgcagccttc tcacgccatg gcgggtcaca acgcggcggc
      361 cgcggcggcg gcggcagcag ctgcggcggc ggcggccgcc acctaccaca tgccgcccgg
      421 cgtctcgcag ttcccgcacg gcgccatggg cagctactgc aacggcggcc tgggcaacat
      481 gggcgagctg cccgcctaca cggacggcat gcggggcggc gcggccaccg gctggtacgg
      541 cgccaacccg gacccacgct actcgtcaat ctccaggttc atggggccgt cggcgggcgt
      601 gaatgtggcc ggcatggggt cgctgaccgg catcgcggac gccgccaagt cgctgggccc
      661 gctgcacgcg gcggcggcgg cagccgctcc gcgaaggaag cgccgcgtgc tcttctcgca
      721 ggcgcaggtc tacgagctgg agcggcgctt caagcagcag aagtacctgt cggcgcccga
      781 gcgcgagcac ctggccagca tgatccacct gacgcccacg caggtcaaga tctggttcca
      841 gaaccaccgg tacaagatga aacggcaggc caaggacaag gcggcgcagc agctgcagca
      901 ggagggcggc ctgggcccgc cgccgcctcc gccgccgtcc ccgcgccgcg tggcggtgcc
      961 tgtgctggtc aaggacggca agccgtgcca gaacggcgcc agcacgccca cccccggcca
     1021 ggccggtccg cagccgccgg ccccgacgcc agcacctgag ctggaggagc tgtcgcccag
     1081 cccacccgcg ctgcacggcc cggggggcgg cctggcggcc ctggacgcgg ccgccgggga
     1141 gtacagcggc ggcgtcctgg gcgccaacct gctctatggc aggacgtggt gacagcgagg
     1201 gcgccccggg gctaggtcct ggtgcacccg aagggtctgc aagaaactgc tagaacggat
     1261 gggggaggca tgcgaaaacc gactcgcgcg tgtaaactgc gattcaaaac gaaccggtct
     1321 cagagaggag caggctgtga acctcttgct gggggcgggg gacagcgaca gcccggaaac
     1381 cgagtagtgt aacattatgc cacgaggctt tgaggtggtg attttctcct cctagaagtt
     1441 cttaaatgac gcgaaaaggt ggagaagttc acacggcatt cttaactaca gctctcaaag
     1501 ttggaaactt tgttggcgtt tgtaactata aaaatcaacc cagctttaac aatcagtcct
     1561 ttttgaagtg gaatttatct tgggagatta attttcgaag ggccccctaa gtgcaatttc
     1621 attaatgttt gattgaaagt aaattgaagt gtagctcaag gtggatcata cacatagcaa
     1681 cattattgca gaggaattat tgccatttag gtaatagagc aatggaatca aaataaaa
//
