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2024-04-20 17:19:11, GGRNA : RefSeq release 60 (20130726)
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 from NCBI Entrez Gene (20130726):
GeneID:137814 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
GeneID:137814 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:137814 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IDA
GeneID:137814 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: ISS
GeneID:137814 -> Biological process: GO:0021854 [hypothalamus development] evidence: ISS
GeneID:137814 -> Biological process: GO:0030154 [cell differentiation] evidence: ISS
GeneID:137814 -> Biological process: GO:0035050 [embryonic heart tube development] evidence: IMP
GeneID:137814 -> Biological process: GO:0035050 [embryonic heart tube development] evidence: ISS
GeneID:137814 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: ISS
GeneID:137814 -> Biological process: GO:0043586 [tongue development] evidence: ISS
GeneID:137814 -> Biological process: GO:0048565 [digestive tract development] evidence: ISS
GeneID:137814 -> Biological process: GO:0055014 [atrial cardiac muscle cell development] evidence: ISS
GeneID:137814 -> Biological process: GO:0055015 [ventricular cardiac muscle cell development] evidence: ISS
GeneID:137814 -> Biological process: GO:0060037 [pharyngeal system development] evidence: ISS
GeneID:137814 -> Biological process: GO:0060039 [pericardium development] evidence: ISS
GeneID:137814 -> Cellular component: GO:0005634 [nucleus] evidence: IC
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