Homo sapiens NK2 transcription factor related, locus 3 (Drosophila) (NKX2-3), mRNA.
| RefSeq Version | NM_145285.2, 148746210 |
| Length | 2117 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens NK2 transcription factor related, locus 3 (Drosophila) (NKX2-3), mRNA. |
| Product | homeobox protein Nkx-2.3 |
| Comment | Summary: This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by orthologous data and transcript alignments. |
| RefSeq | NP_660328.2 |
| CDS | 200..1294 | Exon (1) | 1..557 | Exon (2) | 1..557 | Exon (3) | 558..2097 |
| Translation | MMLPSPVTSTPFSVKDILNLEQQHQHFHGAHLQADLEHHFHSAPCMLAAAEGTQFSDGGE
EDEEDEGEKLSYLNSLAAADGHGDSGLCPQGYVHTVLRDSCSEPKEHEEEPEVVRDRSQK
SCQLKKSLETAGDCKAAEESERPKPRSRRKPRVLFSQAQVFELERRFKQQRYLSAPEREH
LASSLKLTSTQVKIWFQNRRYKCKRQRQDKSLELGAHAPPPPPRRVAVPVLVRDGKPCVT
PSAQAYGAPYSVGASAYSYNSFPAYGYGNSAAAAAAAAAAAAAAAAYSSSYGCAYPAGGG
GGGGGTSAATTAMQPACSAAGGGPFVNVSNLGGFGSGGSAQPLHQGTAAGAACAQGTLQG
IRAW
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| Position | Chain | Variation | Link |
| 2 | + | g, t | dbSNP:59938878 |
| 315 | + | a, c | dbSNP:77050787 |
| 346 | + | a, c | dbSNP:41290504 |
| 408 | + | g, t | dbSNP:114975224 |
| 632 | + | a, c | dbSNP:79873574 |
| 752 | + | c, t | dbSNP:113459553 |
| 781 | + | a, c | dbSNP:78122843 |
| 1008..1095 | + | , largedeletion | dbSNP:10529697 |
| 1012 | + | c, g | dbSNP:59754112 |
| 1018 | + | c, g | dbSNP:60505509 |
| 1021 | + | c, g | dbSNP:59941155 |
| 1042 | + | a, c | dbSNP:10082511 |
| 1469..1470 | + | , a | dbSNP:5787350 |
| 1470..1471 | + | , a | dbSNP:5787351 |
| 1471..1472 | + | , a | dbSNP:33982223 |
| complement(1679) | - | t, c | dbSNP:888208 |
| 1748 | + | c, t | dbSNP:7906496 |
| 1908 | + | g, t | dbSNP:7906748 |
| 1913 | + | a, g | dbSNP:78952335 |
| Gene Symbol | NKX2-3 |
| Gene Synonym | CSX3; NK2.3; NKX2.3; NKX2C; NKX4-3 |
| Chromosome | 10 |
| Locus Map | 10q24.2 |
| All Transcripts | NM_145285 |
| Title | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci . |
| Author | Franke,A., McGovern,D.P., Barrett,J.C., Wang,K., Radford-Smith,G.L., Ahmad,T., Lees,C.W., Balschun,T., Lee,J., Roberts,R., Anderson,C.A., Bis,J.C., Bumpstead,S., Ellinghaus,D., Festen,E.M., Georges,M., Green,T., Haritunians,T., Jostins,L., Latiano,A., Mathew,C.G., Montgomery,G.W., Prescott,N.J., Raychaudhuri,S., Rotter,J.I., Schumm,P., Sharma,Y., Simms,L.A., Taylor,K.D., Whiteman,D., Wijmenga,C., Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C., Cohen,A., Colombel,J.F., Cottone,M., Stronati,L., Denson,T., De Vos,M., D'Inca,R., Dubinsky,M., Edwards,C., Florin,T., Franchimont,D., Gearry,R., Glas,J., Van Gossum,A., Guthery,S.L., Halfvarson,J., Verspaget,H.W., Hugot,J.P., Karban,A., Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C., Louis,E., Mowat,C., Newman,W., Panes,J., Phillips,A., Proctor,D.D., Regueiro,M., Russell,R., Rutgeerts,P., Sanderson,J., Sans,M., Seibold,F., Steinhart,A.H., Stokkers,P.C., Torkvist,L., Kullak-Ublick,G., Wilson,D., Walters,T., Targan,S.R., Brant,S.R., Rioux,J.D., D'Amato,M., Weersma,R.K., Kugathasan,S., Griffiths,A.M., Mansfield,J.C., Vermeire,S., Duerr,R.H., Silverberg,M.S., Satsangi,J., Schreiber,S., Cho,J.H., Annese,V., Hakonarson,H., Daly,M.J. and Parkes,M. |
| Journal | Nat. Genet. 42 (12), 1118-1125 (2010) |
| Title | NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients . |
| Author | Meggyesi,N., Kiss,L.S., Koszarska,M., Bortlik,M., Duricova,D., Lakatos,L., Molnar,T., Lenicek,M., Vitek,L., Altorjay,I., Papp,M., Tulassay,Z., Miheller,P., Papp,J., Tordai,A., Andrikovics,H., Lukas,M. and Lakatos,P.L. |
| Journal | World J. Gastroenterol. 16 (41), 5233-5240 (2010) |
| Title | Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children . |
| Author | Amre,D.K., Mack,D.R., Morgan,K., Israel,D., Deslandres,C., Seidman,E.G., Lambrette,P., Costea,I., Krupoves,A., Fegury,H., Dong,J., Xhu,Z., Grimard,G. and Levy,E. |
| Journal | Hum. Genet. 128 (2), 131-135 (2010) |
| Title | Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis . |
| Author | Laukens,D., Georges,M., Libioulle,C., Sandor,C., Mni,M., Vander Cruyssen,B., Peeters,H., Elewaut,D. and De Vos,M. |
| Journal | PLoS ONE 5 (11), E13795 (2010) |
| Title | Molecular reclassification of Crohn's disease by cluster analysis of genetic variants . |
| Author | Cleynen,I., Mahachie John,J.M., Henckaerts,L., Van Moerkercke,W., Rutgeerts,P., Van Steen,K. and Vermeire,S. |
| Journal | PLoS ONE 5 (9), E12952 (2010) |
| Title | Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility . |
| Author | Parkes,M., Barrett,J.C., Prescott,N.J., Tremelling,M., Anderson,C.A., Fisher,S.A., Roberts,R.G., Nimmo,E.R., Cummings,F.R., Soars,D., Drummond,H., Lees,C.W., Khawaja,S.A., Bagnall,R., Burke,D.A., Todhunter,C.E., Ahmad,T., Onnie,C.M., McArdle,W., Strachan,D., Bethel,G., Bryan,C., Lewis,C.M., Deloukas,P., Forbes,A., Sanderson,J., Jewell,D.P., Satsangi,J., Mansfield,J.C., Cardon,L. and Mathew,C.G. |
| Journal | Nat. Genet. 39 (7), 830-832 (2007) |
| Title | Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls . |
| Author | |
| Journal | Nature 447 (7145), 661-678 (2007) |
| Title | NK-2 class homeobox genes and pharyngeal/oral patterning: Nkx2-3 is required for salivary gland and tooth morphogenesis . |
| Author | Biben,C., Wang,C.C. and Harvey,R.P. |
| Journal | Int. J. Dev. Biol. 46 (4), 415-422 (2002) |
| Title | Differential binding of an SRF/NK-2/MEF2 transcription factor complex in normal versus neoplastic smooth muscle tissues . |
| Author | Phiel,C.J., Gabbeta,V., Parsons,L.M., Rothblat,D., Harvey,R.P. and McHugh,K.M. |
| Journal | J. Biol. Chem. 276 (37), 34637-34650 (2001) |
| Title | NK-2 homeobox genes and heart development . |
| Author | Harvey,R.P. |
| Journal | Dev. Biol. 178 (2), 203-216 (1996) |
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