KEGG   Homo sapiens (human): 4204Help
Entry
4204              CDS       T01001                                 

Gene name
MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
Definition
methyl CpG binding protein 2 (Rett syndrome)
Orthology
K11588  
methyl CpG binding protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00440  
Rett syndrome
H00478  
Prader-Willi and Angelman syndromes
H00480  
Non-syndromic X-linked mental retardation
H01211  
MECP2-related severe neonatal encephalopathy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
Xq28
AA seq 498 aa AA seqDB search
MAAAAAAAPSGGGGGGEEERLEEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQP
SAHHSAEPAEAGKAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKL
KQRKSGRSAGKYDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRR
EQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQT
SPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAV
KESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKE
SSPKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDL
SSSVCKEEKMPRGGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPR
PNREEPVDSRTPVTERVS
NT seq 1497 nt NT seq  +upstreamnt  +downstreamnt
atggccgccgccgccgccgccgcgccgagcggaggaggaggaggaggcgaggaggagaga
ctggaagaaaagtcagaagaccaggacctccagggcctcaaggacaaacccctcaagttt
aaaaaggtgaagaaagataagaaagaagagaaagagggcaagcatgagcccgtgcagcca
tcagcccaccactctgctgagcccgcagaggcaggcaaagcagagacatcagaagggtca
ggctccgccccggctgtgccggaagcttctgcctcccccaaacagcggcgctccatcatc
cgtgaccggggacccatgtatgatgaccccaccctgcctgaaggctggacacggaagctt
aagcaaaggaaatctggccgctctgctgggaagtatgatgtgtatttgatcaatccccag
ggaaaagcctttcgctctaaagtggagttgattgcgtacttcgaaaaggtaggcgacaca
tccctggaccctaatgattttgacttcacggtaactgggagagggagcccctcccggcga
gagcagaaaccacctaagaagcccaaatctcccaaagctccaggaactggcagaggccgg
ggacgccccaaagggagcggcaccacgagacccaaggcggccacgtcagagggtgtgcag
gtgaaaagggtcctggagaaaagtcctgggaagctccttgtcaagatgccttttcaaact
tcgccagggggcaaggctgaggggggtggggccaccacatccacccaggtcatggtgatc
aaacgccccggcaggaagcgaaaagctgaggccgaccctcaggccattcccaagaaacgg
ggccgaaagccggggagtgtggtggcagccgctgccgccgaggccaaaaagaaagccgtg
aaggagtcttctatccgatctgtgcaggagaccgtactccccatcaagaagcgcaagacc
cgggagacggtcagcatcgaggtcaaggaagtggtgaagcccctgctggtgtccaccctc
ggtgagaagagcgggaaaggactgaagacctgtaagagccctgggcggaaaagcaaggag
agcagccccaaggggcgcagcagcagcgcctcctcaccccccaagaaggagcaccaccac
catcaccaccactcagagtccccaaaggcccccgtgccactgctcccacccctgccccca
cctccacctgagcccgagagctccgaggaccccaccagcccccctgagccccaggacttg
agcagcagcgtctgcaaagaggagaagatgcccagaggaggctcactggagagcgacggc
tgccccaaggagccagctaagactcagcccgcggttgccaccgccgccacggccgcagaa
aagtacaaacaccgaggggagggagagcgcaaagacattgtttcatcctccatgccaagg
ccaaacagagaggagcctgtggacagccggacgcccgtgaccgagagagttagctga

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