|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Rett_syndrome
neurodevelopmental disorders
|
|
gptkbp:discoveredBy
|
gptkb:Adrian_Bird
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:domain
|
Methyl-CpG-binding domain (MBD)
Transcriptional repression domain (TRD)
|
|
gptkbp:encodedBy
|
gptkb:MECP2_gene
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
brain
|
|
gptkbp:fullName
|
Methyl CpG binding protein 2
|
|
gptkbp:function
|
DNA binding
chromatin binding
transcriptional repression
chromatin remodeling
binds methylated DNA
|
|
gptkbp:GOProcess
|
nervous system development
regulation of transcription, DNA-templated
|
|
gptkbp:HGNC_ID
|
6990
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MeCP2 protein
|
|
gptkbp:interactsWith
|
gptkb:HDAC1
gptkb:CREB1
gptkb:Sin3A
ATRX
NCoR/SMRT complex
|
|
gptkbp:length
|
486 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:molecularWeight
|
53 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
duplication
frameshift
causes Rett syndrome
|
|
gptkbp:OMIM
|
300005
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:PDB
|
1QK9
|
|
gptkbp:postTranslationalModification
|
phosphorylation
sumoylation
acetylation
|
|
gptkbp:reviewedBy
|
gptkb:GeneCards
gptkb:OMIM
gptkb:UniProt
|
|
gptkbp:significance
|
critical for brain development
|
|
gptkbp:UniProtID
|
gptkb:P51608
|
|
gptkbp:bfsParent
|
gptkb:MECP2
|
|
gptkbp:bfsLayer
|
7
|