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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Ontology (1)   
   KEGG BRITE (1)   
Disease (11)   
   KEGG DISEASE (5)   
   OMIM (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (46)   
   KEGG ORTHOLOGY (1)   
   RefGene (31)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (2)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (11)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (81)   
   RefSeq(nuc) (7)   
   GenBank (37)   
   EMBL (37)   
Protein domain (1)   
   Pfam (1)   
All databases (152)   

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