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Homo sapiens forkhead box G1 (FOXG1), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_005249 Homo sapiens forkhead box G1 (FOXG1), mRNA. Full Lenth $754.00
ORF Sequence $426.30


RefSeq Version NM_005249.3, 32307176
Length 2600 bp
Structure linear
Update Date 03-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens forkhead box G1 (FOXG1), mRNA.
Product forkhead box protein G1
Comment

Summary: This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. [provided by RefSeq].

RefSeq NP_005240.3
CDS 200..1669
Exon (1)1..2585
Exon (2)1..2585
Translation MLDMGDRKEVKMIPKSSFSINSLVPEAVQNDNHHASHGHHNSHHPQHHHHHHHHHHHPPP PAPQPPPPPQQQQPPPPPPPAPQPPQTRGAPAADDDKGPQQLLLPPPPPPPPAAALDGAK ADGLGGKGEPGGGPGELAPVGPDEKEKGAGAGGEEKKGAGEGGKDGEGGKEGEKKNGKYE KPPFSYNALIMMAIRQSPEKRLTLNGIYEFIMKNFPYYRENKQGWQNSIRHNLSLNKCFV KVPRHYDDPGKGNYWMLDPSSDDVFIGGTTGKLRRRSTTSRAKLAFKRGARLTSTGLTFM DRAGSLYWPMSPFLSLHHPRASSTLSYNGTTSAYPSHPMPYSSVLTQNSLGNNHSFSTAN GLSVDRLVNGEIPYATHHLTAAALAASVPCGLSVPCSGTYSLNPCSVNLLAGQTSYFFPH VPHPSMTSQSSTSMSARAASSSTSPQAPSTLPCESLRPSLPSFTTGLSGGLSDYFTHQNQ GSSSNPLIH
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Position Chain Variation Link
646+c, gdbSNP:112803404
complement(1432)-t, cdbSNP:34654108
1547+a, cdbSNP:1126890
1761..1762+, cdbSNP:11433787
1762..1763+, cdbSNP:71805792
1769+, cdbSNP:68024132
1826+c, tdbSNP:111723999
2089+, adbSNP:35458312
2147..2151+, tctttdbSNP:75768168
2213+a, gdbSNP:1042761
2269+a, gdbSNP:1042762
2562+g, tdbSNP:1042766
Gene SymbolFOXG1
Gene SynonymBF1; BF2; FHKL3; FKH2; FKHL1; FKHL2; FKHL3; FKHL4; FOXG1A; FOXG1B; FOXG1C; HBF-1; HBF-2; HBF-3; HBF-G2; HBF2; HFK1; HFK2; HFK3; KHL2; QIN
Chromosome14
Locus Map14q13
All Transcripts NM_005249
Title A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization .
Author Le Guen,T., Fichou,Y., Nectoux,J., Bahi-Buisson,N., Rivier,F., Boddaert,N., Diebold,B., Heron,D., Chelly,J. and Bienvenu,T.
Journal Hum. Mutat. 32 (2), E2026-E2035 (2011)
Title Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment .
Author Brunetti-Pierri,N., Paciorkowski,A.R., Ciccone,R., Mina,E.D., Bonaglia,M.C., Borgatti,R., Schaaf,C.P., Sutton,V.R., Xia,Z., Jelluma,N., Ruivenkamp,C., Bertrand,M., de Ravel,T.J., Jayakar,P., Belli,S., Rocchetti,K., Pantaleoni,C., D'Arrigo,S., Hughes,J., Cheung,S.W., Zuffardi,O. and Stankiewicz,P.
Journal Eur. J. Hum. Genet. 19 (1), 102-107 (2011)
Title Epilepsy in Rett syndrome: clinical and genetic features .
Author Pintaudi,M., Calevo,M.G., Vignoli,A., Parodi,E., Aiello,F., Baglietto,M.G., Hayek,Y., Buoni,S., Renieri,A., Russo,S., Cogliati,F., Giordano,L., Canevini,M. and Veneselli,E.
Journal Epilepsy Behav 19 (3), 296-300 (2010)
Title Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis .
Author Baranzini,S.E., Srinivasan,R., Khankhanian,P., Okuda,D.T., Nelson,S.J., Matthews,P.M., Hauser,S.L., Oksenberg,J.R. and Pelletier,D.
Journal Brain 133 (9), 2603-2611 (2010)
Title Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant .
Author Bahi-Buisson,N., Nectoux,J., Girard,B., Van Esch,H., De Ravel,T., Boddaert,N., Plouin,P., Rio,M., Fichou,Y., Chelly,J. and Bienvenu,T.
Journal Neurogenetics 11 (2), 241-249 (2010)
Title The oncogene qin codes for a transcriptional repressor .
Author Li,J., Chang,H.W., Lai,E., Parker,E.J. and Vogt,P.K.
Journal Cancer Res. 55 (23), 5540-5544 (1995)
Title The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q .
Author Wiese,S., Murphy,D.B., Schlung,A., Burfeind,P., Schmundt,D., Schnulle,V., Mattei,M.G. and Thies,U.
Journal Biochim. Biophys. Acta 1262 (2-3), 105-112 (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 Human brain factor 1, a new member of the fork head gene family .
Author Murphy,D.B., Wiese,S., Burfeind,P., Schmundt,D., Mattei,M.G., Schulz-Schaeffer,W. and Thies,U.
Journal Genomics 21 (3), 551-557 (1994)
Title The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head .
Author Li,J. and Vogt,P.K.
Journal Proc. Natl. Acad. Sci. U.S.A. 90 (10), 4490-4494 (1993)

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