LOCUS       NM_001136271            1775 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens NK2 homeobox 6 (NKX2-6), mRNA.
ACCESSION   NM_001136271 XM_001716458 XM_070619 XM_939389
VERSION     NM_001136271.3
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 1775)
  AUTHORS   Ritter,A., Werner,P., Latney,B., Krock,B.L., Santani,A.,
            Bedoukian,E., Skraban,C.M., Deardorff,M.A. and Goldmuntz,E.
  TITLE     NKX2-6 related congenital heart disease: Biallelic
            homeodomain-disrupting variants and truncus arteriosus
  JOURNAL   Am J Med Genet A 182 (6), 1454-1459 (2020)
   PUBMED   32198970
  REMARK    GeneRIF: NKX2-6 related congenital heart disease: Biallelic
            homeodomain-disrupting variants and truncus arteriosus.
REFERENCE   2  (bases 1 to 1775)
  AUTHORS   Wang,J., Mao,J.H., Ding,K.K., Xu,W.J., Liu,X.Y., Qiu,X.B., Li,R.G.,
            Qu,X.K., Xu,Y.J., Huang,R.T., Xue,S. and Yang,Y.Q.
  TITLE     A novel NKX2.6 mutation associated with congenital ventricular
            septal defect
  JOURNAL   Pediatr Cardiol 36 (3), 646-656 (2015)
   PUBMED   25380965
  REMARK    GeneRIF: This study firstly links NKX2.6 loss-of-function mutation
            with increased susceptibility to isolated VSD.
REFERENCE   3  (bases 1 to 1775)
  AUTHORS   Wang,J., Zhang,D.F., Sun,Y.M., Li,R.G., Qiu,X.B., Qu,X.K., Liu,X.,
            Fang,W.Y. and Yang,Y.Q.
  TITLE     NKX2-6 mutation predisposes to familial atrial fibrillation
  JOURNAL   Int J Mol Med 34 (6), 1581-1590 (2014)
   PUBMED   25319568
  REMARK    GeneRIF: Data associated genetically defective NK2 homeobox 6
            (NKX2-6) with enhanced susceptibility to atrial fibrillation (AF).
REFERENCE   4  (bases 1 to 1775)
  AUTHORS   Zhao,L., Ni,S.H., Liu,X.Y., Wei,D., Yuan,F., Xu,L., Xin-Li,
            Li,R.G., Qu,X.K., Xu,Y.J., Fang,W.Y., Yang,Y.Q. and Qiu,X.B.
  TITLE     Prevalence and spectrum of Nkx2.6 mutations in patients with
            congenital heart disease
  JOURNAL   Eur J Med Genet 57 (10), 579-586 (2014)
   PUBMED   25195019
  REMARK    GeneRIF: Heterozygous mutations in Nkx2.6, p.V176M and p.K177X,
            were identified in 2 unrelated patients, one with tetralogy of
            Fallot and one with double outlet of right ventricle and
            ventricular septal defect. Increased vulnerability to TOF or DORV
            is discussed.
REFERENCE   5  (bases 1 to 1775)
  AUTHORS   Ta-Shma,A., El-lahham,N., Edvardson,S., Stepensky,P., Nir,A.,
            Perles,Z., Gavri,S., Golender,J., Yaakobi-Simhayoff,N., Shaag,A.,
            Rein,A.J. and Elpeleg,O.
  TITLE     Conotruncal malformations and absent thymus due to a deleterious
            NKX2-6 mutation
  JOURNAL   J Med Genet 51 (4), 268-270 (2014)
   PUBMED   24421281
  REMARK    GeneRIF: NKX2-6 plays a role in human cardiogenesis.
REFERENCE   6  (bases 1 to 1775)
  AUTHORS   Khetyar,M., Tinworth,L., Syrris,P., Abushaban,L., Abdulazzaq,Y.,
            Silengo,M., Carvalho,J. and Carter,N.
  TITLE     NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1
            truncus arteriosus in a small cohort of multiethnic cases
  JOURNAL   Genet Test 12 (4), 467-469 (2008)
   PUBMED   18939937
  REMARK    GeneRIF: NKX2.5/NKX2.6 mutations are not a common cause of isolated
            type 1 truncus arteriosus in a small cohort of multiethnic cases.
REFERENCE   7  (bases 1 to 1775)
  AUTHORS   Nagase,T., Yamakawa,H., Tadokoro,S., Nakajima,D., Inoue,S.,
            Yamaguchi,K., Itokawa,Y., Kikuno,R.F., Koga,H. and Ohara,O.
  TITLE     Exploration of human ORFeome: high-throughput preparation of ORF
            clones and efficient characterization of their protein products
  JOURNAL   DNA Res 15 (3), 137-149 (2008)
   PUBMED   18316326
REFERENCE   8  (bases 1 to 1775)
  AUTHORS   Heathcote,K., Braybrook,C., Abushaban,L., Guy,M., Khetyar,M.E.,
            Patton,M.A., Carter,N.D., Scambler,P.J. and Syrris,P.
  TITLE     Common arterial trunk associated with a homeodomain mutation of
            NKX2.6
  JOURNAL   Hum Mol Genet 14 (5), 585-593 (2005)
   PUBMED   15649947
  REMARK    GeneRIF: weakly activates transcription of a Cx40 promoter, may
            have role in heart development
REFERENCE   9  (bases 1 to 1775)
  AUTHORS   Newman,C.S. and Krieg,P.A.
  TITLE     tinman-related genes expressed during heart development in Xenopus
  JOURNAL   Dev Genet 22 (3), 230-238 (1998)
   PUBMED   9621430
REFERENCE   10 (bases 1 to 1775)
  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 AC012574.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 3, 2020 this sequence version replaced NM_001136271.2.
            
            Summary: This gene encodes a homeobox-containing protein that
            belongs to the NK-2 homeobox family. This protein is a vertebrate
            homolog of Drosophila homeobox-containing protein called 'tinman',
            which has been shown to be essential for development of the
            heart-like dorsal vessel. In conjunction with related gene, NKX2-5,
            this gene may play a role in both pharyngeal and cardiac embryonic
            development. Mutations in this gene are associated with persistent
            truncus arteriosus.[provided by RefSeq, Aug 2011].
            
            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 :: CN272646.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325017.4/ ENSP00000320089.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-432               AC012574.7         36427-36858         c
            433-1775            AC012574.7         31842-33184         c
FEATURES             Location/Qualifiers
     source          1..1775
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..1775
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; CTHM; NKX2F; NKX4-2"
                     /note="NK2 homeobox 6"
                     /db_xref="GeneID:137814"
                     /db_xref="HGNC:HGNC:32940"
                     /db_xref="MIM:611770"
     exon            1..432
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; CTHM; NKX2F; NKX4-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1064
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; CTHM; NKX2F; NKX4-2"
                     /note="tinman paralog; homeobox protein NKX2.6; homeobox
                     protein NK2 homolog F; NK2 transcription factor related,
                     locus 6; tinman homolog"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.6"
                     /protein_id="NP_001129743.2"
                     /db_xref="GeneID:137814"
                     /db_xref="HGNC:HGNC:32940"
                     /db_xref="MIM:611770"
                     /translation="MLLSPVTSTPFSVKDILRLERERSCPAASPHPRVRKSPENFQYL
                     RMDAEPRGSEVHNAGGGGGDRKLDGSEPPGGPCEAVLEMDAERMGEPQPGLNAASPLG
                     GGTRVPERGVGNSGDSVRGGRSEQPKARQRRKPRVLFSQAQVLALERRFKQQRYLSAP
                     EREHLASALQLTSTQVKIWFQNRRYKCKRQRQDKSLELAGHPLTPRRVAVPVLVRDGK
                     PCLGPGPGAPAFPSPYSAAVSPYSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASA
                     GFGHGGQNATPQGHLAATLQGVRAW"
     exon            433..1775
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; CTHM; NKX2F; NKX4-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1757..1762
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; CTHM; NKX2F; NKX4-2"
                     /note="hexamer: AATAAA"
     polyA_site      1775
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; CTHM; NKX2F; NKX4-2"
                     /note="major polyA site"
ORIGIN      
        1 gggcctacca gcatggccca gaggaaggcg ctgtctggga cgctgggcgt ctgtcccaga
       61 gcttgggtct gtctgcgggg cctgcagcga caagacggga agttcagggt gccgctcctc
      121 acccggacct cctcggcccc gccccatccg ccttcgggat gctgctgagc cccgtcacct
      181 ccaccccctt ctcggtcaag gacatcctgc gactggagcg cgagcggagc tgccccgcgg
      241 cttcgccaca tccgcgggtg cggaagagcc cggaaaactt tcagtacctg agaatggacg
      301 cagagccgcg agggtcagag gttcacaacg ctggtggcgg cggcggtgac agaaagctgg
      361 atggttcgga gcctcctggg ggtccctgtg aggcagtctt ggagatggac gcggaacgga
      421 tgggggagcc acagcccggc ctgaacgcgg cctcgcccct cggcggcggg accagggtgc
      481 cagagcgcgg cgttggcaac agcggcgaca gcgtgcgggg tggccgctcg gagcagccca
      541 aggcgcggca acgacggaag ccgcgcgtgc tcttttcgca ggcgcaggtg ctggccctgg
      601 agcggcgctt caagcagcag cggtacctgt cagcgcccga gcgcgagcac ctggccagcg
      661 cgctgcagct cacgtccacg caggtcaaga tctggttcca gaaccgacgc tacaaatgca
      721 agagacagcg ccaggacaag tcgctggaac tggctggcca ccctctaacg ccgcgccgag
      781 tagctgtgcc cgtcctggtg cgcgatggca agccctgcct gggccccggg cccggcgcac
      841 ctgccttccc cagcccctac agtgcagcag tgtcgcccta ctcttgctac ggaggctaca
      901 gcggagcacc ctacggcgca ggctacggca cctgctacgc gggcgcgccc tcgggtcctg
      961 cgccacacac accactggcc agcgcgggct tcggacacgg tggccagaat gccaccccgc
     1021 agggccatct ggcagccacg ctgcagggtg tcagggcctg gtgaggctcc tcggcttgac
     1081 tctgccaacc agggccagat gctcgttccc ttcccctccg cccgcaggtc gtgacaagga
     1141 ggggacgcgg cgctggaagg aagctgctac ccaacggcgc ttctttccgg agggatctct
     1201 gaaactgcga tctgcaccac agtcacccag ttaaaggccc cgcctgggac gttcttcccc
     1261 caaaagaaga cccctccacc ggtcacccac caagcaacac agggactgaa gaacaccaag
     1321 gctggctggc agtttggggt gtgggagcag tactaaggcg cgtgactttt ggggcttcaa
     1381 ccccagaggc ccgagaggct cttgcatctg tacgcagcag ccccggggca tcggcggtga
     1441 atggagatgg tgatctagcg ggcctaccat cctccaatta atgacagctg ttggggaaga
     1501 aagagaagag gacgggaggg cgggaagggg gctgaagagc tgggaacttg aggatccggg
     1561 aagttcacga agagtaacct gctttgagcc tcttcctttg ggacttaaac atccccataa
     1621 ggccgcgccc caggggactc cgttaatcca gaggagcact cttttctggc cacgactgct
     1681 ctcctggaag taggctctac attctggtcc ctttcactgt tgtgcatttt atctctttgt
     1741 acagcacagc acctccaata aatatactaa atagg
//
