About Enhancer
| Enhancer ID: | E_00276 |
| Species: | Homo sapiens |
| Position : | chr1:236660389-236660646   |
| Year: | 2024 |
| Title: | A transcriptional enhancer regulates cardiac maturation. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 39196225 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | H9 human pluripotent stem cells differentiated into hPSC-CMs |
| Cell Type: | cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | causal enhancer deletion/CRISPRi/enCRISPRa plus direct TF-binding validation |
| High Throughput Method: | scRNA-seq; bulk RNA-seq; cardiomyocyte ATAC-seq; H3K27ac/H3K4me1/p300 ChIP-seq reanalysis; differentiation-stage Hi-C |
| Low Throughput Method: | heterozygous enhancer deletion; CRISPRi at rs535411; enCRISPRa; luciferase reporter; MEF2C ChIP-qPCR; modified-MEF2C mRNA overexpression; cardiomyocyte differentiation; contractility; mitochondrial respiration; RT-qPCR; immunoblot |
About Target Gene
| Target gene : | ACTN2 |
About TF
| TF name : | MEF2C |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| MEF2C | CDO in myogenesis | reactome | 29 |
| MEF2C | Circadian Clock | reactome | 49 |
| MEF2C | ErbB1 downstream signaling | pid | 105 |
| MEF2C | ERK/MAPK targets | reactome | 17 |
| MEF2C | Notch | netpath | 76 |
| MEF2C | Oxidative stress response | panther | 23 |
| MEF2C | p38 MAPK pathway | panther | 31 |
| MEF2C | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| MEF2C | Regulation of retinoblastoma protein | pid | 67 |
| MEF2C | Signaling events mediated by HDAC Class II | pid | 58 |
| MEF2C | Signaling mediated by p38-alpha and p38-beta | pid | 35 |
| MEF2C | TGF_beta_Receptor | netpath | 220 |
| MEF2C | Transcriptional activation of mitochondrial biogenesis | reactome | 43 |
| MEF2C | Trk receptor signaling mediated by the MAPK pathway | pid | 34 |
| MEF2C | MAPK signaling pathway | kegg | 264 |
| MEF2C | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| MEF2C | Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 | wikipathways | 153 |
| MEF2C | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
| MEF2C | Hs_Oxidation_by_Cytochrome_P450_WP43_84102 | wikipathways | 14 |
| MEF2C | Hs_TGF-beta_Signaling_Pathway_WP366_90028 | wikipathways | 67 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
5 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00277 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
| E_00278 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
| E_00279 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
| E_00280 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
| E_00281 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
Expression of Target Genes for the Enhancer