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

Gene name
MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
Definition
(RefSeq) methyl-CpG binding protein 2
  KO
K11588  methyl CpG binding protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00440  Rett syndrome
H00480  Non-syndromic X-linked mental retardation
H01211  MECP2-related severe neonatal encephalopathy
H01732  Angelman syndrome (AS)
H02111  Autism
Brite
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic Type
  Heterochromatin formation proteins
   MBPs (metylated DNA binding proteins)
    4204 (MECP2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MBD
Motif
Other DBs
NCBI-GeneID: 4204
NCBI-ProteinID: NP_004983
OMIM: 300005
HGNC: 6990
Ensembl: ENSG00000169057
Vega: OTTHUMG00000024229
Pharos: P51608(Tbio)
UniProt: P51608 D3YJ43 Q59FJ6
Structure
PDB: 

Position
Xq28
AA seq 486 aa AA seqDB search
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAG
KAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKY
DVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPK
APGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV
LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASS
PPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS
NT seq 1461 nt NT seq  +upstreamnt  +downstreamnt
atggtagctgggatgttagggctcagggaagaaaagtcagaagaccaggacctccagggc
ctcaaggacaaacccctcaagtttaaaaaggtgaagaaagataagaaagaagagaaagag
ggcaagcatgagcccgtgcagccatcagcccaccactctgctgagcccgcagaggcaggc
aaagcagagacatcagaagggtcaggctccgccccggctgtgccggaagcttctgcctcc
cccaaacagcggcgctccatcatccgtgaccggggacccatgtatgatgaccccaccctg
cctgaaggctggacacggaagcttaagcaaaggaaatctggccgctctgctgggaagtat
gatgtgtatttgatcaatccccagggaaaagcctttcgctctaaagtggagttgattgcg
tacttcgaaaaggtaggcgacacatccctggaccctaatgattttgacttcacggtaact
gggagagggagcccctcccggcgagagcagaaaccacctaagaagcccaaatctcccaaa
gctccaggaactggcagaggccggggacgccccaaagggagcggcaccacgagacccaag
gcggccacgtcagagggtgtgcaggtgaaaagggtcctggagaaaagtcctgggaagctc
cttgtcaagatgccttttcaaacttcgccagggggcaaggctgaggggggtggggccacc
acatccacccaggtcatggtgatcaaacgccccggcaggaagcgaaaagctgaggccgac
cctcaggccattcccaagaaacggggccgaaagccggggagtgtggtggcagccgctgcc
gccgaggccaaaaagaaagccgtgaaggagtcttctatccgatctgtgcaggagaccgta
ctccccatcaagaagcgcaagacccgggagacggtcagcatcgaggtcaaggaagtggtg
aagcccctgctggtgtccaccctcggtgagaagagcgggaaaggactgaagacctgtaag
agccctgggcggaaaagcaaggagagcagccccaaggggcgcagcagcagcgcctcctca
ccccccaagaaggagcaccaccaccatcaccaccactcagagtccccaaaggcccccgtg
ccactgctcccacccctgcccccacctccacctgagcccgagagctccgaggaccccacc
agcccccctgagccccaggacttgagcagcagcgtctgcaaagaggagaagatgcccaga
ggaggctcactggagagcgacggctgccccaaggagccagctaagactcagcccgcggtt
gccaccgccgccacggccgcagaaaagtacaaacaccgaggggagggagagcgcaaagac
attgtttcatcctccatgccaaggccaaacagagaggagcctgtggacagccggacgccc
gtgaccgagagagttagctga

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