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Database:

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Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu28311 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu28311C Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_004992.3, 160707948
Length 1461 bp
Structure linear
Update Date 20-JUN-2014
Organism Homo sapiens (human)
Definition Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA.
Product methyl-CpG-binding protein 2 isoform 1
Comment

Summary: DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009].


Transcript Variant: This variant (1), also known as MECP2A, includes exon 2. Translation is reported to initiate in exon 2 resulting in a protein isoform (1) with a distinct N-terminus.

RefSeq NP_004983.1
CDS 227..1687
Misc Feature(1)176..178
Misc Feature(2)176..178
Misc Feature(3)464..466
Misc Feature(4)464..466
Misc Feature(5)464..466
Misc Feature(6)506..730
Misc Feature(7)order(545..547,551..553,557..559,581..583,587..589,
Misc Feature(8)572..574
Misc Feature(9)872..874
Misc Feature(10)1502..1504
Misc Feature(11)1571..1573
Exon (1)1..128
Gene:MECP2
Gene Synonym:AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
Exon (2)129..252
Gene:MECP2
Gene Synonym:AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
Exon (3)253..603
Gene:MECP2
Gene Synonym:AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
Exon (4)604..10241
Gene:MECP2
Gene Synonym:AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
Translation MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAG KAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKY DVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPK APGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASS PPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP VTERVS
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Position Chain Variation Link
71+dbSNP:
71+c, tdbSNP:179363901
89..90+, cgcdbSNP:398123566
complement(217)-t, cdbSNP:202057538
complement(235..236)-, cdbSNP:34320032
complement(280)-dbSNP:
complement(280)-g, cdbSNP:372500343
316+a, gdbSNP:398124187
complement(361)-g, adbSNP:139477857
complement(426)-c, adbSNP:150900180
441..442+, c, tdbSNP:61754441
complement(463)-g, cdbSNP:374659909
complement(499)-t, cdbSNP:200629699
complement(502)-t, cdbSNP:140191561
524+c, gdbSNP:28935168
542+c, g, tdbSNP:28934907
complement(601)-t, gdbSNP:146107517
623+dbSNP:
623+c, g, tdbSNP:28934904
636+a, gdbSNP:61748392
645+c, tdbSNP:28934908
649+a, c, gdbSNP:61748396
652+c, tdbSNP:61748397
complement(674)-g, adbSNP:371082040
680+c, gdbSNP:179363900
690+c, g, tdbSNP:28934905
694+c, g, tdbSNP:61748408
699+c, tdbSNP:28934906
complement(721)-g, adbSNP:376821032
728+c, tdbSNP:61748421
751..752+, cdbSNP:62621666
complement(752)-g, adbSNP:186663314
complement(787)-t, gdbSNP:200074866
800+a, tdbSNP:193922679
808+c, tdbSNP:61749711
complement(821)-t, gdbSNP:373329231
834+c, tdbSNP:61749720
837+c, gdbSNP:61749724
856..859+, aaggdbSNP:62621668
complement(869)-t, cdbSNP:377324117
900+c, g, tdbSNP:61749715
complement(907)-t, cdbSNP:373297476
complement(927)-g, cdbSNP:138211345
936+, gdbSNP:61749743
complement(940)-t, cdbSNP:369813305
956+c, tdbSNP:61749747
974..975+, c, tdbSNP:61749752
complement(974)-g, adbSNP:141382970
979..980+, c, ccdbSNP:267608522
989+c, tdbSNP:61749721
1003+c, tdbSNP:1042870
1032+, gdbSNP:61750241
1034+c, g, tdbSNP:61750240
1041+c, tdbSNP:61750243
complement(1050)-g, adbSNP:143989769
complement(1061)-t, cdbSNP:371234586
complement(1087)-g, adbSNP:139378224
1106+c, tdbSNP:61751362
1116..1201+dbSNP:63749747
1123+c, tdbSNP:61748423
1124+a, gdbSNP:61751370
1135+c, gdbSNP:61751439
complement(1142)-t, cdbSNP:386576625
1142+c, tdbSNP:28935468
1158+c, tdbSNP:61751445
1162+c, tdbSNP:398124188
complement(1180)-t, cdbSNP:141454727
1190+c, g, tdbSNP:61751449
complement(1204)-g, adbSNP:374670136
complement(1286)-g, adbSNP:143876280
1297+c, tdbSNP:61750236
complement(1298)-t, cdbSNP:147017239
complement(1340)-g, adbSNP:375477214
1352+c, tdbSNP:61752387
complement(1355)-t, cdbSNP:368461080
1363+c, tdbSNP:61752980
complement(1366)-t, cdbSNP:201711454
complement(1376)-g, adbSNP:373116070
1377+c, tdbSNP:193922676
complement(1380)-g, adbSNP:111302745
complement(1381)-g, adbSNP:370226935
1382+c, tdbSNP:1042873
1387+c, tdbSNP:61750246
1406+a, g, tdbSNP:63094662
complement(1415)-t, c, adbSNP:56268439
1423+c, tdbSNP:61753012
complement(1427)-t, cdbSNP:369899986
complement(1430)-t, gdbSNP:150146088
complement(1459)-g, adbSNP:3027928
complement(1481)-g, adbSNP:140258520
complement(1482)-g, adbSNP:376324027
complement(1483)-g, adbSNP:199540575
complement(1497)-g, adbSNP:369143093
complement(1507)-g, adbSNP:374900442
1508+a, gdbSNP:61753971
complement(1523)-g, adbSNP:371728415
1541+a, gdbSNP:61753973
complement(1543)-t, cdbSNP:146632223
1553+a, gdbSNP:193922677
complement(1554)-g, adbSNP:375101073
1556+a, gdbSNP:61753975
1558+, cdbSNP:267608397
complement(1561)-t, cdbSNP:3027927
1589+g, tdbSNP:104894864
complement(1599)-t, cdbSNP:185957513
complement(1627)-t, cdbSNP:375532936
1645+c, gdbSNP:75498268
complement(1659)-t, cdbSNP:145790362
1667+a, gdbSNP:193922678
complement(1697)-t, cdbSNP:370633265
complement(1701)-t, cdbSNP:199963992
complement(1707)-g, cdbSNP:202182246
complement(1712)-g, adbSNP:182066127
complement(1801)-g, adbSNP:189508671
complement(1832)-t, cdbSNP:185048124
complement(1843)-c, adbSNP:73627291
complement(1881)-t, cdbSNP:3027926
complement(1945)-g, cdbSNP:187969533
complement(1967)-t, c, adbSNP:183655599
complement(2040)-t, cdbSNP:377013900
complement(2054)-t, cdbSNP:62620967
complement(2060)-t, cdbSNP:146407932
complement(2063)-g, cdbSNP:372821698
complement(2101)-g, cdbSNP:369316233
complement(2103)-t, cdbSNP:141497603
complement(2117)-g, adbSNP:376211092
complement(2149)-t, cdbSNP:373248662
complement(2195)-g, cdbSNP:144267471
complement(2218..2219)-, tdbSNP:34192817
complement(2253)-g, cdbSNP:369545314
complement(2294)-t, cdbSNP:149593619
complement(2314)-t, cdbSNP:3027925
complement(2372)-g, cdbSNP:193185725
complement(2390)-g, adbSNP:372844004
complement(2442)-t, cdbSNP:372254721
complement(2451)-g, cdbSNP:187932718
complement(2459)-t, cdbSNP:183441961
complement(2496)-t, cdbSNP:368952862
complement(2497)-c, adbSNP:190249595
complement(2507)-g, cdbSNP:185146054
complement(2517)-t, cdbSNP:182344920
complement(2575)-g, cdbSNP:371700099
complement(2591)-t, cdbSNP:181697351
complement(2751)-t, adbSNP:5987193
complement(2796)-g, adbSNP:190425483
complement(2805)-t, cdbSNP:186774570
complement(2833)-g, cdbSNP:181130816
complement(2843)-t, cdbSNP:368130574
complement(2921)-t, cdbSNP:375292960
2963+a, gdbSNP:2853337
complement(3005)-t, cdbSNP:368325086
complement(3007)-t, cdbSNP:188615745
complement(3087)-g, cdbSNP:3027923
complement(3108)-c, adbSNP:140263878
complement(3129)-t, cdbSNP:2734645
complement(3197)-g, adbSNP:112674002
complement(3330)-g, adbSNP:41304986
complement(3403)-t, cdbSNP:191406252
complement(3492)-g, adbSNP:149055102
complement(3543)-t, cdbSNP:372191872
complement(3552)-t, cdbSNP:189253298
complement(3658)-c, adbSNP:112969322
complement(3674..3675)-, adbSNP:371159727
complement(3914)-t, adbSNP:78543190
4090+c, gdbSNP:3813458
4145+c, tdbSNP:3813459
complement(4155)-t, cdbSNP:188469187
complement(4173)-t, gdbSNP:369628636
complement(4227)-g, adbSNP:185203012
complement(4233..4234)-, gdbSNP:201027377
4806+a, gdbSNP:28403628
complement(4806)-g, adbSNP:386575007
complement(4886)-t, cdbSNP:201835353
complement(4964)-g, cdbSNP:2734644
complement(5126)-t, adbSNP:201029961
complement(5173)-g, cdbSNP:191660801
complement(5232)-g, adbSNP:376099523
complement(5325)-t, cdbSNP:2734647
complement(5403)-c, adbSNP:187250057
complement(5424)-g, cdbSNP:139849709
complement(5494)-t, cdbSNP:182188616
complement(5650)-g, adbSNP:188764327
complement(5748)-, adbSNP:35261581
complement(6007)-c, adbSNP:183869736
complement(6031)-g, cdbSNP:150660702
complement(6084)-g, adbSNP:191997825
complement(6318)-t, cdbSNP:2734643
complement(6524)-g, adbSNP:186841969
complement(6550)-t, cdbSNP:181614505
complement(6602)-g, adbSNP:375836496
complement(6853..6854)-, aadbSNP:200602554
complement(6888)-g, cdbSNP:190031183
complement(6935)-t, cdbSNP:185617517
complement(7078)-c, adbSNP:147495408
complement(7163)-t, adbSNP:180798692
complement(7310)-t, cdbSNP:200861195
complement(7328)-t, gdbSNP:61495057
complement(7537)-g, adbSNP:184353399
complement(7557)-g, adbSNP:370642953
complement(7588)-t, cdbSNP:79615013
complement(7650)-g, adbSNP:182221808
complement(7728)-t, cdbSNP:377393681
complement(7740)-g, adbSNP:190444336
complement(8034)-g, cdbSNP:142948743
complement(8167)-g, cdbSNP:139053716
complement(8316)-t, cdbSNP:185164750
complement(8323)-g, cdbSNP:111782334
complement(8494)-g, adbSNP:192271039
complement(8609)-g, cdbSNP:3027919
complement(9067)-t, cdbSNP:41314155
complement(9121)-t, cdbSNP:187125270
complement(9145)-g, cdbSNP:12556178
complement(9204)-t, adbSNP:3027918
complement(9329)-c, adbSNP:144586717
complement(9416)-g, cdbSNP:373373478
complement(9535)-g, adbSNP:3027916
complement(9637)-g, adbSNP:41299118
complement(9710)-t, cdbSNP:370233900
complement(9721)-g, cdbSNP:374914351
complement(9822)-t, cdbSNP:3027914
complement(9830)-t, adbSNP:3027913
complement(9847)-t, cdbSNP:3027912
complement(9866)-g, adbSNP:372966365
complement(9904)-t, cdbSNP:7066787
complement(9948)-g, adbSNP:191797155
10124+a, gdbSNP:3177341
complement(10124)-t, cdbSNP:386580507
complement(10180..10181)-, gdbSNP:57855075
complement(10181)-, gdbSNP:373589962
Gene SymbolMECP2
Gene SynonymAUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT
ChromosomeX
Locus MapXq28
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. On-demand $219.00 7-9
Title MeCP2 phosphorylation limits psychostimulant-induced behavioral and neuronal plasticity .
Author Deng JV, Wan Y, Wang X, Cohen S, Wetsel WC, Greenberg ME, Kenny PJ, Calakos N and West AE.
Journal J. Neurosci. 34 (13), 4519-4527 (2014)
Title Sequence variants within exon 1 of MECP2 occur in females with mental retardation .
Author Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Minassian BA and Vincent JB.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (3), 355-360 (2007)
Title Mechanisms of disease: neurogenetics of MeCP2 deficiency .
Author Francke U.
Journal Nat Clin Pract Neurol 2 (4), 212-221 (2006)
Title A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome .
Author Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB and Minassian BA.
Journal Nat. Genet. 36 (4), 339-341 (2004)
Title Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions .
Author Reichwald K, Thiesen J, Wiehe T, Weitzel J, Poustka WA, Rosenthal A, Platzer M, Stratling WH and Kioschis P.
Journal Mamm. Genome 11 (3), 182-190 (2000)
Title MECP2-Related Disorders .
Author Christodoulou,J. and Ho,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Autism Spectrum Disorders .
Author Miles,J.H., McCathren,R.B., Stichter,J. and Shinawi,M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title MECP2 Duplication Syndrome .
Author Van Esch,H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA .
Author Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F and Bird A.
Journal Cell 69 (6), 905-914 (1992)

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