About Enhancer
| Enhancer ID: | E_00022 |
| 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 GATA4 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 : | Gata4 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| Gata4 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| Gata4 | Notch-mediated HES/HEY network | pid | 48 |
| Gata4 | Physiological factors | reactome | 12 |
| Gata4 | Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) | reactome | 13 |
| Gata4 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| Gata4 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| Gata4 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
| Gata4 | Hs_Serotonin_Receptor_2_and_ELK-SRF-GATA4_signaling_WP732_80010 | wikipathways | 13 |
Enhancer Associated Network
Overlapping Enhancers (mm39)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00021 | chr13:12371881-12373182 | heart | cardiomyocyte | heart failure susceptibility |
Expression of Target Genes for the Enhancer