Homo sapiens forkhead box C1 (FOXC1), mRNA.
| RefSeq Version | NM_001453.2, 119395715 |
| Length | 3452 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens forkhead box C1 (FOXC1), mRNA. |
| Product | forkhead box protein C1 |
| Comment | Summary: This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq]. Sequence Note: This RefSeq record was created from genomic sequence data because mRNA transcripts were not available for the full length of the gene. The extent of this transcript is supported by orthologous mouse data. |
| RefSeq | NP_001444.2 |
| CDS | 1..1662 | Exon (1) | 1..3452 | Exon (2) | 1..3452 |
| Translation | MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGM
ARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQ
GWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDAV
KDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP
PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSL
YSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAG
GSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLY
RTSGAFVYDCSKF
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| Position | Chain | Variation | Link |
| 67 | + | c, t | dbSNP:104893952 |
| 144 | + | a, g | dbSNP:112885689 |
| 204 | + | g, t | dbSNP:35168188 |
| 207 | + | c, g | dbSNP:35974174 |
| 245 | + | c, g | dbSNP:104893953 |
| 261 | + | c, g | dbSNP:104893954 |
| 335 | + | c, t | dbSNP:104893951 |
| 358 | + | c, t | dbSNP:121909339 |
| 378 | + | c, g | dbSNP:104893958 |
| 388 | + | c, t | dbSNP:121909338 |
| 392 | + | c, t | dbSNP:104893957 |
| 405 | + | c, t | dbSNP:2230096 |
| 409 | + | c, g | dbSNP:9502980 |
| 889 | + | c, t | dbSNP:79691946 |
| 1123..1124 | + | , ggc | dbSNP:71807729 |
| 1141..1142 | + | , gcg | dbSNP:76840944 |
| 1276 | + | a, g | dbSNP:1051933 |
| 1333 | + | a, c | dbSNP:75089353 |
| 1453 | + | c, t | dbSNP:76166083 |
| 1458 | + | a, g | dbSNP:1051934 |
| 1554 | + | g, t | dbSNP:117187598 |
| 1563 | + | g, t | dbSNP:73406891 |
| 1714 | + | a, g | dbSNP:73406893 |
| 1738 | + | a, c | dbSNP:75477380 |
| 1748..1749 | + | , a | dbSNP:71884933 |
| 1767 | + | a, c | dbSNP:116336796 |
| 1971 | + | a, t | dbSNP:62390613 |
| 2209 | + | a, g | dbSNP:77607008 |
| 2238 | + | a, c | dbSNP:34877245 |
| 2322 | + | , cttt | dbSNP:75932839 |
| 2396 | + | a, t | dbSNP:35717904 |
| 2565 | + | g, t | dbSNP:35607877 |
| 2849 | + | a, t | dbSNP:984253 |
| 2890 | + | a, c | dbSNP:34470720 |
| 2913..2914 | + | , aa | dbSNP:35347817 |
| 3006 | + | a, g | dbSNP:2745599 |
| complement(3160) | - | t, c | dbSNP:3799328 |
| 3291 | + | g, t | dbSNP:114694096 |
| 3293 | + | a, g | dbSNP:34380836 |
| Gene Symbol | FOXC1 |
| Gene Synonym | ARA; FKHL7; FREAC-3; FREAC3; IGDA; IHG1; IRID1; RIEG3 |
| Chromosome | 6 |
| Locus Map | 6p25 |
| All Transcripts | NM_001453 |
| Title | Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations . |
| Author | D'haene,B., Meire,F., Claerhout,I., Kroes,H.Y., Plomp,A., Arens,Y.H., de Ravel,T., Casteels,I., De Jaegere,S., Hooghe,S., Wuyts,W., van den Ende,J., Roulez,F., Veenstra-Knol,H.E., Oldenburg,R.A., Giltay,J., Verheij,J.B., de Faber,J.T., Menten,B., De Paepe,A., Kestelyn,P., Leroy,B.P. and De Baere,E. |
| Journal | Invest. Ophthalmol. Vis. Sci. 52 (1), 324-333 (2011) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | A Large-scale genetic association study of esophageal adenocarcinoma risk . |
| Author | Liu,C.Y., Wu,M.C., Chen,F., Ter-Minassian,M., Asomaning,K., Zhai,R., Wang,Z., Su,L., Heist,R.S., Kulke,M.H., Lin,X., Liu,G. and Christiani,D.C. |
| Journal | Carcinogenesis 31 (7), 1259-1263 (2010) |
| Title | FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer . |
| Author | Ray,P.S., Wang,J., Qu,Y., Sim,M.S., Shamonki,J., Bagaria,S.P., Ye,X., Liu,B., Elashoff,D., Hoon,D.S., Walter,M.A., Martens,J.W., Richardson,A.L., Giuliano,A.E. and Cui,X. |
| Journal | Cancer Res. 70 (10), 3870-3876 (2010) |
| Title | MYOC and FOXC1 gene analysis in primary congenital glaucoma . |
| Author | Tanwar,M., Kumar,M., Dada,T., Sihota,R. and Dada,R. |
| Journal | Mol. Vis. 16, 1996-2006 (2010) |
| Title | Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25 . |
| Author | Gould,D.B., Mears,A.J., Pearce,W.G. and Walter,M.A. |
| Journal | Am. J. Hum. Genet. 61 (3), 765-768 (1997) |
| Title | Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25 . |
| Author | Mears,A.J., Mirzayans,F., Gould,D.B., Pearce,W.G. and Walter,M.A. |
| Journal | Am. J. Hum. Genet. 59 (6), 1321-1327 (1996) |
| Title | Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12) . |
| Author | Larsson,C., Hellqvist,M., Pierrou,S., White,I., Enerback,S. and Carlsson,P. |
| Journal | Genomics 30 (3), 464-469 (1995) |
| Title | Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending . |
| Author | Pierrou,S., Hellqvist,M., Samuelsson,L., Enerback,S. and Carlsson,P. |
| Journal | EMBO J. 13 (20), 5002-5012 (1994) |
| Title | Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells . |
| Author | Hromas,R., Moore,J., Johnston,T., Socha,C. and Klemsz,M. |
| Journal | Blood 81 (11), 2854-2859 (1993) |
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