GGRNA | NM_001136271.2

LOCUS       NM_001136271             906 bp    mRNA    linear   PRI 15-APR-2013
DEFINITION  Homo sapiens NK2 homeobox 6 (NKX2-6), mRNA.
ACCESSION   NM_001136271 XM_001716458 XM_070619 XM_939389
VERSION     NM_001136271.2  GI:343183349
KEYWORDS    RefSeq.
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 906)
  AUTHORS   Man,M., Close,S.L., Shaw,A.D., Bernard,G.R., Douglas,I.S.,
            Kaner,R.J., Payen,D., Vincent,J.L., Fossceco,S., Janes,J.M.,
            Leishman,A.G., O'Brien,L., Williams,M.D. and Garcia,J.G.
  TITLE     Beyond single-marker analyses: mining whole genome scans for
            insights into treatment responses in severe sepsis
  JOURNAL   Pharmacogenomics J. (2012) In press
   PUBMED   22310353
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 906)
  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   3  (bases 1 to 906)
  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   4  (bases 1 to 906)
  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   5  (bases 1 to 906)
  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   6  (bases 1 to 906)
  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 and CN272646.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 10, 2011 this sequence version replaced gi:210147469.
            
            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].
            
            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, and homology
            data from other species.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CN272646.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-189               AC012574.7         36512-36700         c
            190-595             CN272646.1         1-406
            596-906             AC012574.7         32553-32863         c
FEATURES             Location/Qualifiers
     source          1..906
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..906
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /note="NK2 homeobox 6"
                     /db_xref="GeneID:137814"
                     /db_xref="HGNC:32940"
                     /db_xref="MIM:611770"
     CDS             1..906
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /note="tinman paralog; homeobox protein NKX2.6; homeobox
                     protein NK2 homolog F; NK2 transcription factor related,
                     locus 6"
                     /codon_start=1
                     /product="homeobox protein Nkx-2.6"
                     /protein_id="NP_001129743.2"
                     /db_xref="GI:343183350"
                     /db_xref="GeneID:137814"
                     /db_xref="HGNC:32940"
                     /db_xref="MIM:611770"
                     /translation="

MLLSPVTSTPFSVKDILRLERERSCPAASPHPRVRKSPENFQYLRMDAEPRGSEVHNAGGGGGDRKLDGSEPPGGPCEAVLEMDAERMGEPQPGLNAASPLGGGTRVPERGVGNSGDSVRGGRSEQPKARQRRKPRVLFSQAQVLALERRFKQQRYLSAPEREHLASALQLTSTQVKIWFQNRRYKCKRQRQDKSLELAGHPLTPRRVAVPVLVRDGKPCLGPGPGAPAFPSPYSAAVSPYSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASAGFGHGGQNATPQGHLAATLQGVRAW

"
     misc_feature    397..573
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(397..411,415..417,466..468,484..486,523..525,
                     529..534,541..546,550..558,562..567)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(403..405,412..414,532..534,541..546,553..555)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     exon            1..274
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(36)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375728930"
     variation       complement(183)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139466287"
     variation       complement(204)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61732911"
     variation       complement(238)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376769591"
     exon            275..906
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(298)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:61740725"
     variation       complement(359)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61743032"
     variation       complement(386)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:143039156"
     variation       complement(445)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374977404"
     variation       451
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:267606914"
     variation       complement(508)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374392076"
     variation       complement(521)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372045387"
     variation       complement(553)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190889748"
     variation       complement(593)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368111443"
     variation       complement(614)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371546349"
     variation       complement(683)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368352157"
     variation       complement(786)
                     /gene="NKX2-6"
                     /gene_synonym="CSX2; NKX2F; NKX4-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61749320"
ORIGIN

atgctgctgagccccgtcacctccacccccttctcggtcaaggacatcctgcgactggagcgcgagcggagctgccccgcggcttcgccacatccgcgggtgcggaagagcccggaaaactttcagtacctgagaatggacgcagagccgcgagggtcagaggttcacaacgctggtggcggcggcggtgacagaaagctggatggttcggagcctcctgggggtccctgtgaggcagtcttggagatggacgcggaacggatgggggagccacagcccggcctgaacgcggcctcgcccctcggcggcgggaccagggtgccagagcgcggcgttggcaacagcggcgacagcgtgcggggtggccgctcggagcagcccaaggcgcggcaacgacggaagccgcgcgtgctcttttcgcaggcgcaggtgctggccctggagcggcgcttcaagcagcagcggtacctgtcagcgcccgagcgcgagcacctggccagcgcgctgcagctcacgtccacgcaggtcaagatctggttccagaaccgacgctacaaatgcaagagacagcgccaggacaagtcgctggaactggctggccaccctctaacgccgcgccgagtagctgtgcccgtcctggtgcgcgatggcaagccctgcctgggccccgggcccggcgcacctgccttccccagcccctacagtgcagcagtgtcgccctactcttgctacggaggctacagcggagcaccctacggcgcaggctacggcacctgctacgcgggcgcgccctcgggtcctgcgccacacacaccactggccagcgcgggcttcggacacggtggccagaatgccaccccgcagggccatctggcagccacgctgcagggtgtcagggcctggtga

//

Annotations: