|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
gptkb:MEF2C_haploinsufficiency_syndrome
epilepsy
intellectual disability
|
|
gptkbp:binds
|
MEF2 DNA consensus sequence
|
|
gptkbp:discoveredBy
|
gptkb:Eric_N._Olson
|
|
gptkbp:encodes
|
gptkb:MEF2C_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000081189
4208
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:firstDescribed
|
1992
|
|
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:interactsWith
|
gptkb:HDAC4
gptkb:GATA4
gptkb:CAMKII
gptkb:MAPK7
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
5q14.3
|
|
gptkbp:memberOf
|
gptkb:MEF2_gene_family
|
|
gptkbp:mutationAssociatedWith
|
hypotonia
seizures
developmental delay
speech impairment
autistic features
|
|
gptkbp:OMIM
|
600662
|
|
gptkbp:orthologInMouse
|
gptkb:Mef2c
|
|
gptkbp:orthologInZebrafish
|
gptkb:mef2cb
mef2ca
|
|
gptkbp:proteinFamily
|
gptkb:MADS-box
gptkb:MADS-box_transcription_factors
gptkb:MEF2_domain
|
|
gptkbp:regulates
|
gptkb:synaptic_plasticity
apoptosis
angiogenesis
immune response
neuronal differentiation
muscle development
hematopoiesis
cardiac development
osteogenesis
activator
repressor
|
|
gptkbp:UniProtID
|
gptkb:Q06413
|
|
gptkbp:bfsParent
|
gptkb:p38_MAPK_pathway
|
|
gptkbp:bfsLayer
|
6
|