|
gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alias
|
gptkb:MRX16
gptkb:PPM-X_syndrome_gene
gptkb:Rett_syndrome_gene
X-linked mental retardation gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:MECP2_duplication_syndrome
gptkb:autism_spectrum_disorder
gptkb:Rett_syndrome
intellectual disability
|
|
gptkbp:clinicalTrialPhase
|
genetic sequencing
|
|
gptkbp:discoveredBy
|
gptkb:Adrian_Bird
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:MeCP2_protein
|
|
gptkbp:Entrez_Gene_ID
|
4204
|
|
gptkbp:expressedIn
|
brain
neurons
glial cells
|
|
gptkbp:fullName
|
gptkb:methyl_CpG_binding_protein_2
|
|
gptkbp:function
|
transcriptional repression
chromatin remodeling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6990
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MECP2 gene
|
|
gptkbp:inheritance
|
X-linked dominant
|
|
gptkbp:length
|
4 exons
486 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq28
gptkb:X_chromosome
|
|
gptkbp:modelOrganismFor
|
gptkb:mouse
gptkb:zebrafish
right
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
missense
neurological disorders
frameshift
most common in females
rare in males
|
|
gptkbp:OMIM
|
300005
|
|
gptkbp:orthologInMouse
|
gptkb:Mecp2
|
|
gptkbp:pathway
|
epigenetic regulation
neurodevelopmental pathway
|
|
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:Rett_syndrome
|
|
gptkbp:bfsLayer
|
7
|