This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Transcription factors with Perturb-seq knockdown data for MEF2C. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MEF2C upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MEF2C, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr5:88,659,646–88,661,615 | 222.1 kb | Distal (>10kb) Multiome | 570 | |
| chr5:88,671,570–88,672,534 | 211.2 kb | Distal (>10kb) Multiome | 221 | |
| chr5:88,674,048–88,676,457 | 207.1 kb | Distal (>10kb) Multiome | 679 | |
| chr5:88,680,113–88,681,161 | 202.7 kb | Distal (>10kb) Multiome | 559 | |
| chr5:88,684,266–88,685,701 | 198.3 kb | Distal (>10kb) Multiome | 236 | |
| chr5:88,882,818–88,884,745 | 89 bp | At TSS Multiome | 663 | |
| chr5:88,889,081–88,890,131 | 5.9 kb | Proximal (<10kb) | 433 |
Genomic view of the MEF2C locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.