|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
epilepsy
intellectual disability
|
|
gptkbp:cofactor
|
gptkb:HDAC4
gptkb:CBP
gptkb:p300
|
|
gptkbp:encodes
|
gptkb:MEF2C_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000081189
4208
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
endothelial cells
|
|
gptkbp:family
|
MEF2 family
|
|
gptkbp:fullName
|
gptkb:myocyte_enhancer_factor_2C
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:HGNC_ID
|
6994
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Mef2c
|
|
gptkbp:involvedIn
|
neuronal differentiation
muscle development
cardiac development
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
5q14.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:MEF2C_haploinsufficiency_syndrome
|
|
gptkbp:OMIM
|
600662
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Mus_musculus
|
|
gptkbp:phosphorylates
|
Ser387
Ser59
Thr293
|
|
gptkbp:proteinFamily
|
gptkb:MADS-box
gptkb:MEF2_domain
|
|
gptkbp:regulates
|
gptkb:MAPK_pathway
apoptosis
cell differentiation
sumoylation
acetylation
synaptic function
axon guidance
calcium signaling
muscle-specific gene expression
neuronal gene expression
calcineurin
MEF2 site
|
|
gptkbp:UniProtID
|
gptkb:Q06413
|
|
gptkbp:bfsParent
|
gptkb:MEF2C
|
|
gptkbp:bfsLayer
|
7
|