|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
epilepsy
intellectual disability
|
|
gptkbp:domain
|
gptkb:MADS-box
gptkb:MEF2_domain
|
|
gptkbp:encodedBy
|
MEF2C gene
|
|
gptkbp:Entrez_Gene_ID
|
4208
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
endothelial cells
|
|
gptkbp:function
|
transcription factor
neuronal differentiation
regulation of gene expression
muscle development
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MEF2C protein
|
|
gptkbp:interactsWith
|
gptkb:HDAC4
gptkb:HDAC9
gptkb:CBP
gptkb:MAPK7
|
|
gptkbp:length
|
473 amino acids
|
|
gptkbp:locatedOnChromosome
|
5q14.3
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:memberOf
|
MEF2 family
|
|
gptkbp:molecularWeight
|
51 kDa
|
|
gptkbp:mutationAssociatedWith
|
hypotonia
seizures
developmental delay
speech impairment
autistic features
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:PDB
|
6BYY
|
|
gptkbp:phosphorylates
|
Serine 59
Threonine 293
|
|
gptkbp:regulates
|
gptkb:synaptic_plasticity
apoptosis
cell differentiation
angiogenesis
immune response
myogenesis
cardiac development
neuronal gene expression
|
|
gptkbp:UniProtID
|
gptkb:Q06413
|
|
gptkbp:bfsParent
|
gptkb:MEF2C
|
|
gptkbp:bfsLayer
|
7
|