myocyte enhancer factor 2C

URI: https://gptkb.org/entity/myocyte_enhancer_factor_2C
GPTKB entity
Statements (34)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alias gptkb:MEF2C
MADS box transcription enhancer factor 2, polypeptide C
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:autism_spectrum_disorder
intellectual disability
gptkbp:binds gptkb:gene
gptkbp:discoveredBy gptkb:Eric_N._Olson
gptkbp:encodedBy MEF2C gene
gptkbp:Entrez_Gene_ID gptkb:ENSG00000081189
4208
gptkbp:expressedIn gptkb:skeletal_muscle
brain
heart
gptkbp:firstDescribed 1992
gptkbp:function transcription factor
gptkbp:HGNC_ID 6994
https://www.w3.org/2000/01/rdf-schema#label myocyte enhancer factor 2C
gptkbp:interactsWith gptkb:HDAC4
gptkb:CAMKII
gptkb:MAPK7
gptkbp:locatedIn gptkb:nucleus
gptkbp:locatedOnChromosome 5q14.3
gptkbp:memberOf MEF2 protein family
gptkbp:mutationAssociatedWith gptkb:MEF2C_haploinsufficiency_syndrome
gptkbp:orthologIn gptkb:mouse
gptkb:zebrafish
gptkbp:regulates neuronal differentiation
muscle development
cardiac development
gptkbp:UniProtID gptkb:Q06413
gptkbp:bfsParent gptkb:MEF2C
gptkbp:bfsLayer 7