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Homo sapiens engrailed homeobox 2 (EN2), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_001427 Homo sapiens engrailed homeobox 2 (EN2), mRNA. Full Lenth $1191.75
ORF Sequence $290.58


RefSeq Version NM_001427.3, 126090912
Length 3405 bp
Structure linear
Update Date 09-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens engrailed homeobox 2 (EN2), mRNA.
Product homeobox protein engrailed-2
Comment

Summary: Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq].

RefSeq NP_001418.2
CDS 250..1251
Exon (1)1..934
Exon (2)935..3395
Translation MEENDPKPGEAAAAVEGQRQPESSPGGGSGGGGGSSPGEADTGRRRALMLPAVLQAPGNH QHPHRITNFFIDNILRPEFGRRKDAGTCCAGAGGGRGGGAGGEGGASGAEGGGGAGGSEQ LLGSGSREPRQNPPCAPGAGGPLPAAGSDSPGDGEGGSKTLSLHGGAKKGGDPGGPLDGS LKARGLGGGDLSVSSDSDSSQAGANLGAQPMLWPAWVYCTRYSDRPSSGPRSRKPKKKNP NKEDKRPRTAFTAEQLQRLKAEFQTNRYLTEQRRQSLAQELSLNESQIKIWFQNKRAKIK KATGNKNTLAVHLMAQGLYNHSTTAKEGKSDSE
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Position Chain Variation Link
153+g, tdbSNP:115057625
360+a, gdbSNP:77846527
complement(610)-g, adbSNP:3735653
653+g, tdbSNP:112029171
849+c, gdbSNP:80239010
1006+g, tdbSNP:75103128
1059+a, gdbSNP:112687347
1149+a, gdbSNP:34614453
1179+c, tdbSNP:56008230
1201+c, tdbSNP:2361689
1254+c, tdbSNP:12674067
1504+g, tdbSNP:79167627
1506+a, gdbSNP:73734533
1716+g, tdbSNP:77549242
1861+a, gdbSNP:56651365
complement(1876)-g, adbSNP:3808330
complement(1955)-t, cdbSNP:3808329
complement(1981)-g, adbSNP:3808328
2001+c, tdbSNP:10234087
2019..2022+, ctttdbSNP:111556743
complement(2069)-g, adbSNP:3808327
2075+c, tdbSNP:55729502
complement(2076)-g, adbSNP:3808326
2131+a, tdbSNP:57599144
2186+, cdbSNP:113000817
2244+c, tdbSNP:4716597
2380+g, tdbSNP:114134796
2446+a, tdbSNP:67027007
2549+c, tdbSNP:10949811
2559..2560+, acdbSNP:113684257
2580+, cacdbSNP:72575652
2581+a, cdbSNP:77385528
2582..2583+, acadbSNP:72022210
2583..2584+, adbSNP:35869460
2733+c, tdbSNP:117213382
3044+c, tdbSNP:118079538
3238..3239+, cdbSNP:34901594
3299+c, tdbSNP:115156116
3381+c, tdbSNP:56178493
Gene SymbolEN2
Gene SynonymEN2
Chromosome7
Locus Map7q36
All Transcripts NM_001427
Title Family-based studies indicate association of Engrailed 2 gene with autism in an Indian population .
Author Sen,B., Singh,A.S., Sinha,S., Chatterjee,A., Ahmed,S., Ghosh,S. and Usha,R.
Journal Genes Brain Behav. 9 (2), 248-255 (2010)
Title Intronic single nucleotide polymorphisms of engrailed homeobox 2 modulate the disease vulnerability of autism in a han chinese population .
Author Yang,P., Shu,B.C., Hallmayer,J.F. and Lung,F.W.
Journal Neuropsychobiology 62 (2), 104-115 (2010)
Title Autism-associated haplotype affects the regulation of the homeobox gene, ENGRAILED 2 .
Author Benayed,R., Choi,J., Matteson,P.G., Gharani,N., Kamdar,S., Brzustowicz,L.M. and Millonig,J.H.
Journal Biol. Psychiatry 66 (10), 911-917 (2009)
Title Haplotype analysis of the engrailed-2 gene in young-onset Parkinson's disease .
Author Rissling,I., Strauch,K., Hoft,C., Oertel,W.H. and Moller,J.C.
Journal Neurodegener Dis 6 (3), 102-105 (2009)
Title Engrailed-2 regulates genes related to vesicle formation and transport in cerebellar Purkinje cells .
Author Holst,M.I., Maercker,C., Pintea,B., Masseroli,M., Liebig,C., Jankowski,J., Miething,A., Martini,J., Schwaller,B., Oberdick,J., Schilling,K. and Baader,S.L.
Journal Mol. Cell. Neurosci. 38 (4), 495-504 (2008)
Title Deregulated expression of PAX5 in medulloblastoma .
Author Kozmik,Z., Sure,U., Ruedi,D., Busslinger,M. and Aguzzi,A.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (12), 5709-5713 (1995)
Title Cloning and sequence comparison of the mouse, human, and chicken engrailed genes reveal potential functional domains and regulatory regions .
Author Logan,C., Hanks,M.C., Noble-Topham,S., Nallainathan,D., Provart,N.J. and Joyner,A.L.
Journal Dev. Genet. 13 (5), 345-358 (1992)
Title Subtle cerebellar phenotype in mice homozygous for a targeted deletion of the En-2 homeobox .
Author Joyner,A.L., Herrup,K., Auerbach,B.A., Davis,C.A. and Rossant,J.
Journal Science 251 (4998), 1239-1243 (1991)
Title Isolation and chromosomal localization of the human En-2 gene .
Author Poole,S.J., Law,M.L., Kao,F.T. and Lau,Y.F.
Journal Genomics 4 (3), 225-231 (1989)
Title Chromosomal localization of the human homeo box-containing genes, EN1 and EN2 .
Author Logan,C., Willard,H.F., Rommens,J.M. and Joyner,A.L.
Journal Genomics 4 (2), 206-209 (1989)

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