KEGG   Homo sapiens (human): 4204
Entry
4204              CDS       T01001                                 
Symbol
MECP2, AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
Name
(RefSeq) methyl-CpG binding protein 2
  KO
K11588  methyl CpG binding protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00440  Rett syndrome
H00658  Syndromic X-linked mental retardation
H01211  MECP2-related severe neonatal encephalopathy
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    4204 (MECP2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Heterochromatin formation proteins
   MBPs (metylated DNA binding proteins)
    4204 (MECP2)
SSDB
Motif
Pfam: MBD
Other DBs
NCBI-GeneID: 4204
NCBI-ProteinID: NP_004983
OMIM: 300005
HGNC: 6990
Ensembl: ENSG00000169057
Pharos: P51608(Tbio)
UniProt: P51608 D3YJ43 Q59FJ6
Structure
Position
X:complement(154021573..154097717)
AA seq 486 aa
MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAG
KAETSEGSGSAPAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKY
DVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPK
APGTGRGRGRPKGSGTTRPKAATSEGVQVKRVLEKSPGKLLVKMPFQTSPGGKAEGGGAT
TSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAAAEAKKKAVKESSIRSVQETV
LPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESSPKGRSSSASS
PPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTP
VTERVS
NT seq 1461 nt   +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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