About Enhancer
| Enhancer ID: | E_00279 |
| 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: | mouse cardiomyocyte and in-vivo heart validation |
| Cell Type: | cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | causal enhancer validation 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; GATA4 ChIP-qPCR; cardiomyocyte differentiation; contractility; mitochondrial respiration; RT-qPCR; immunoblot |
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 (hg38)
5 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00276 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
| E_00277 | chr1:236660389-236660646 | heart | cardiomyocyte | NA |
| E_00278 | 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