About Enhancer
| Enhancer ID: | E_00021 |
| Species: | Mus musculus |
| Position : | chr13:12371881-12373182   |
| Year: | 2024 |
| Title: | A transcriptional enhancer regulates cardiac maturation. |
| Genome Build: | mm39 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | heart failure susceptibility |
| PMID: | 39196225 |
| MONDO: | MONDO:0005252 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | hPSC-derived cardiomyocytes plus endogenous Actn2 enhancer-deletion mouse models |
| Cell Type: | cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Actn2 enh/Rr593 endogenous enhancer deletion; human ortholog CRISPRi/enCRISPRa; direct MEF2C occupancy; maturation and mitochondrial phenotyping |
| High Throughput Method: | scRNA-seq; RNA-seq; GWAS integration; ATAC-seq; H3K27ac/H3K4me1 ChIP-seq; Hi-C |
| Low Throughput Method: | CRISPR-Cas9 enhancer deletion; CRISPRi; enCRISPRa; luciferase reporter; ChIP-qPCR; RT-qPCR; Western blot; Seahorse respiration; echocardiography |
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 (mm39)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00022 | chr13:12371881-12373182 | heart | cardiomyocyte | heart failure susceptibility |
Expression of Target Genes for the Enhancer