LOCUS       NM_001146340            3211 bp    mRNA    linear   PRI 04-JAN-2025
DEFINITION  Homo sapiens NK1 homeobox 2 (NKX1-2), mRNA.
ACCESSION   NM_001146340 XM_001724117 XM_372331 XM_940698
VERSION     NM_001146340.3
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 3211)
  AUTHORS   Costain,G., Lionel,A.C., Ogura,L., Marshall,C.R., Scherer,S.W.,
            Silversides,C.K. and Bassett,A.S.
  TITLE     Genome-wide rare copy number variations contribute to genetic risk
            for transposition of the great arteries
  JOURNAL   Int J Cardiol 204, 115-121 (2016)
   PUBMED   26655555
REFERENCE   2  (bases 1 to 3211)
  AUTHORS   Rovescalli,A.C., Cinquanta,M., Ferrante,J., Kozak,C.A. and
            Nirenberg,M.
  TITLE     The mouse Nkx-1.2 homeobox gene: alternative RNA splicing at
            canonical and noncanonical splice sites
  JOURNAL   Proc Natl Acad Sci U S A 97 (5), 1982-1987 (2000)
   PUBMED   10681422
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL445237.16 and BX092002.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001146340.2.
            
            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.
            
            CCDS Note: This CCDS representation lacks full-length human
            transcript support. Its exon combination is therefore inferred, but
            it is supported by the full-length orthologous transcript in mouse
            (AF222444.1).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2153733,
                              SAMEA2153932 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000451024.5/ ENSP00000451945.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-306               AL445237.16        120850-121155       c
            307-2678            AL445237.16        116896-119267       c
            2679-3211           BX092002.1         1-533
FEATURES             Location/Qualifiers
     source          1..3211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..3211
                     /gene="NKX1-2"
                     /gene_synonym="bB238F13.2; C10orf121; NKX-1.1; SAX1"
                     /note="NK1 homeobox 2"
                     /db_xref="GeneID:390010"
                     /db_xref="HGNC:HGNC:31652"
                     /db_xref="MIM:621058"
     exon            1..306
                     /gene="NKX1-2"
                     /gene_synonym="bB238F13.2; C10orf121; NKX-1.1; SAX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1025
                     /gene="NKX1-2"
                     /gene_synonym="bB238F13.2; C10orf121; NKX-1.1; SAX1"
                     /note="homeobox protein SAX-1; NK1 transcription factor
                     related, locus 2"
                     /codon_start=1
                     /product="NK1 transcription factor-related protein 2"
                     /protein_id="NP_001139812.1"
                     /db_xref="CCDS:CCDS59221.1"
                     /db_xref="GeneID:390010"
                     /db_xref="HGNC:HGNC:31652"
                     /db_xref="MIM:621058"
                     /translation="MLAWQDGGAKAAPSHHKISFSVLDILDPQKFTRAALPAVRPAPR
                     EARKSLAEVEAGKDASSRDPVRQLETPDAAGPGAGQASPLEGSEAEEEEDAEDPRRPR
                     LRERAARLLPGLARSPDAPAGALASGEPCEDGGGGPVRSPPGSPGSPRPRRRRLEPNC
                     AKPRRARTAFTYEQLVALENKFRATRYLSVCERLNLALSLSLTETQVKIWFQNRRTKW
                     KKQNPGADGAAQVGGGAPQPGAAGGGGGGGSGGSPGPPGTGALHFQTFPSYSAANVLF
                     PSAASFPLTAAAPGSPFAPFLGPSYLTPFYAPRL"
     exon            307..3211
                     /gene="NKX1-2"
                     /gene_synonym="bB238F13.2; C10orf121; NKX-1.1; SAX1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3190..3195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX1-2"
                     /gene_synonym="bB238F13.2; C10orf121; NKX-1.1; SAX1"
                     /note="hexamer: AATAAA"
     polyA_site      3211
                     /gene="NKX1-2"
                     /gene_synonym="bB238F13.2; C10orf121; NKX-1.1; SAX1"
                     /note="major polyA site"
ORIGIN      
        1 ggaaagctac cgccaagcca cagccgaagg caagcccgag cggcgccatc cccaaccccg
       61 cgccgccgac cgccggcccg tgggcgacgg gcatgctggc atggcaggac ggcggggcca
      121 aggcggctcc ctcccaccac aagatttctt tctctgtcct ggacatcctg gacccacaga
      181 aattcacccg cgcagcgctc cctgccgtgc gcccggctcc ccgggaagcc aggaaaagtt
      241 tggcggaggt cgaagcgggg aaagatgcca gctccaggga ccctgtccga cagctggaga
      301 cccctgatgc tgcgggccca ggcgccggcc aggcgtcccc cctggagggt tccgaggcgg
      361 aagaggagga ggatgcggag gatccgagga ggccgcggct gcgggagcgg gctgcgcgct
      421 tgctgccggg cctagcgcgc tcacctgacg ccccggccgg ggcattggcg tctggggagc
      481 cctgcgagga cggcgggggc ggccctgtga ggtccccccc gggatccccc ggctccccgc
      541 gtcccaggcg ccggcgcctg gagcccaact gcgccaagcc gcggcgcgcg cgcaccgcct
      601 tcacctacga gcagctggtg gccttggaga acaagttccg ggccacgcgc tacctgtcag
      661 tgtgcgagcg cctgaacctc gcgctgtctc tcagcctcac cgagacgcag gtcaaaatct
      721 ggttccagaa tcgcaggacc aagtggaaga agcagaaccc gggtgccgac ggcgcggcgc
      781 aggtgggggg tggcgcgccc cagccagggg cggcgggggg cggcggcggc ggcggctcgg
      841 ggggcagtcc tggccctccc ggcaccggcg ctctgcactt ccagactttc ccctcctact
      901 ccgcggccaa tgtcctcttc ccgtccgccg cctccttccc gctgacggct gccgcccccg
      961 ggagcccttt cgcgccgttc cttgggcctt cctacctgac ccccttctac gccccgcgtc
     1021 tatgaatccg gagccccctg gcccctcttt cgcgggattc acgagggatt ggcatcgtcg
     1081 tgtgccctcg gctcctccac cgggggtgca ggtgcgcggg tgtcagcgca cccctgcccg
     1141 ccgcgcgcac ccgcgatcct cgcgggccac caaggggtca gggatctgcc gtccttcaaa
     1201 gtgtccgggg acggaggctg acctcaagcc ttgccgtttc tggaccttgc tgttcacttt
     1261 gggtcaggtt taattcagtt caggggctag tttttgaggg tctgggtgtt cggcgcgggg
     1321 ctaaccaaga tgccaggagg gaaatacagg gagcagagac gccctggctg ccagctgctg
     1381 gcggctagga tggaaccttt aaaggtgctg gctcatcaga gggtgagaaa cagtctctgt
     1441 tcacaactga cagcttcccc tcctcgtgct cgatggttca gcccaaaccc agagagttct
     1501 tccaaatcct gaacgaggct ggggagagct tggtcctgga gcacagacgg ccgctctgaa
     1561 acggactatt tttaaaatgc ataaaactcc acatttctag atctttactt aagattcgga
     1621 ctggaacaca atacttgttc caaataacct ccccaggcta ttcctgagag agggggtacc
     1681 ttggtttttg gagtaggcca gaagtttgtg gtaggaaagg tgactgattt gcagctagac
     1741 tcacctgcta aagtagacac gggtctgttg cactgcaggt tttgagaaca gcctggacca
     1801 aaccacacag tgaccccaaa ggcataaaaa tgataatgaa ggcagcgatg gctcaactaa
     1861 tatcatgaag tctatgcatg aggctgccta ctttgatttg cagtagttga tactttaaaa
     1921 cttcagtcct ggcttatctg cctgtcccag ggattcctgg gctcccaata gtgagccagg
     1981 atggggaaga gctagctcca tcagcacaca ctacatgtgg acagttggac tggactgttt
     2041 tttaaaagca caaactcaac atttttagat cttcgtctag gattctgact tgaaaacaat
     2101 tcttgttaca aacagactct ttatggtggt gaacaagcag agattgtaag ggcccatgaa
     2161 agcaatactt gggtgtgaag agccgtcata ttcctaatgg attcacctcc aggaatctga
     2221 tacatggaca tgcattttaa ctgctgcttt tattacctcc cttaaaaaat tagttctgtg
     2281 aaattccctt gccacttttg cttggaatac atttccttta gttttctacc taatataatc
     2341 ttgtagccca cgtctcagaa acccagaggt ccccagttgt gtcatgtatg tttcattctc
     2401 acttttgatt acttgaggcc agccgagatc tgtgtggata ccatattcct tgctattttt
     2461 tggtagcctg tgctactaac aatcaaattt aatggtcaat ggcttcaaag taaagcaccc
     2521 tgtttggtat tatggattac attccatgac tatgatcttg aaatatctag ttctgttatc
     2581 aggaatgata gaaaatattc cccatttctc ctaaattaag tgaagacttc atggttcatg
     2641 tgactctcat aatatttgat agtatgtatt atttaattac ttaatatcca ctaattagac
     2701 tcttttcctt ctaaagaaga atgtccccca aacaacacat tgtaactttc taaaagacag
     2761 ttggtgccag atgagattaa aaatgcagtt actctactag ataatattca ccttacactt
     2821 cggtaaacac tcctttaata actatttgtt ggtttctcaa aagcaatatc ccatattaaa
     2881 cagacaattc aaatgtgaca attcctctgt aacaaagaag ctgaattctg taataaatgg
     2941 gaaacatttc attccagtct tctcaggtac cagaatcatg gacttcagta gaagagaggg
     3001 aatagggaga gaggtgggag gctgatctgt tcgtggccca gcacggtgct gtaattcctg
     3061 acccttctgg tttccacaga tcattgcaga gtaatgcttg aagcgtgtga ctttggactt
     3121 ctgctgcttt aaaaggccca gtggctttcc aaccaaatcc ttagactcaa tctattggtg
     3181 tgtttgtcta ataaattctt tttgtagtaa a
//
