AlphaFold predicted structure
MEF2C · Q06413
Mean pLDDT
55.7/ 100
Low
473 residues
Confidence breakdown
- Very high(≥ 90)19%
- Confident(70–90)3%
- Low(50–70)14%
- Very low(< 50)65%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MEF2C
Chr 5q14.3myocyte enhancer factor 2C
- MANE:
- ENST00000504921.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited white matter disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedWhite matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
0.775q14.3 microdeletion syndrome
0.65autism spectrum disorder
0.55hereditary disease
0.54Abnormality of the skeletal system
0.50Intellectual disability
0.49intelligence
0.47neurodegenerative disease
0.46hypertensive disorder
0.46attention deficit-hyperactivity disorder
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Myocyte-specific enhancer factor 2C
Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1
Diseases associated with MEF2C
Curated MONDO disease pages that list MEF2C among their top associated genes.