|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:MRX16
gptkb:PPM-X_syndrome_gene
gptkb:Rett_syndrome_gene
gptkb:Xq28_gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:MECP2_duplication_syndrome
gptkb:Rett_syndrome
X-linked mental retardation
|
|
gptkbp:binds
|
methylated DNA
|
|
gptkbp:chromosomeArm
|
gptkb:Xq28
|
|
gptkbp:discoveredBy
|
gptkb:Adrian_Bird
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:MeCP2_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000169057
4204
|
|
gptkbp:expressedIn
|
gptkb:nervous_system
brain
neurons
glial cells
|
|
gptkbp:fullName
|
gptkb:methyl_CpG_binding_protein_2
|
|
gptkbp:function
|
transcriptional repression
chromatin remodeling
|
|
gptkbp:HGNC_ID
|
6990
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MECP2
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:length
|
4 exons
486 amino acids
|
|
gptkbp:locatedOnChromosome
|
X
|
|
gptkbp:molecularWeight
|
53 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
intellectual disability
deletion
missense
neurological disorder
frameshift
autism spectrum disorder features
|
|
gptkbp:OMIM
|
300005
|
|
gptkbp:orthologInChimpanzee
|
gptkb:MECP2
|
|
gptkbp:orthologInMouse
|
gptkb:Mecp2
|
|
gptkbp:orthologInZebrafish
|
mecp2
|
|
gptkbp:proteinFamily
|
gptkb:MBD_(methyl-CpG-binding_domain)
gptkb:TRD_(transcriptional_repression_domain)
|
|
gptkbp:regulates
|
gene expression
brain development
synaptic function
neuronal maturation
|
|
gptkbp:UniProtID
|
gptkb:P51608
|
|
gptkbp:bfsParent
|
gptkb:Xq28
|
|
gptkbp:bfsLayer
|
6
|