About Enhancer
| Enhancer ID: | E_02173 |
| Species: | Mus musculus |
| Position : | chr17:26850487-26851000   |
| Year: | 2023 |
| Title: | An Anterior Second Heart Field Enhancer Regulates the Gene Regulatory Network of the Cardiac Outflow Tract. |
| Genome Build: | mm10 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | conotruncal heart malformations |
| PMID: | 37772400 |
| MONDO: | MONDO:0016581 |
| Tissue: | outflow tract |
| Tissue Ontology ID: | UBERON:0004145 |
| Cell Source: | embryonic mouse anterior second heart field, outflow tract and right ventricular myocardium |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Endogenous enhancer deletion assay; TF-enhancer interaction assay; developmental phenotyping; cardiac electrophysiology; Endogenous enhancer perturbation; TF binding assay; Chromatin-state profiling; In vivo functional validation |
| High Throughput Method: | RNA-seq; single-cell RNA-seq; GATA6 ChIP-seq; ATAC-seq; ChIP-seq |
| Low Throughput Method: | CRISPR/Cas9 226-bp enhancer deletion; RT-qPCR; ChIP-qPCR; histology; scanning electron microscopy; ECG; echocardiography; optical mapping; Start/End represent the paper-defined -9435 to -8922 functional enhancer interval mapped to mm10; the 226-bp CRISPR deletion is nested within this interval; CRISPR-Cas9 endogenous deletion/editing; ChIP; Site-directed/motif mutagenesis; Mouse genetic deletion/knock-in |
About Target Gene
| Target gene : | Nkx2-5 |
About TF
| TF name : | Gata6 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| Gata6 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| Gata6 | Notch-mediated HES/HEY network | pid | 48 |
| Gata6 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation | reactome | 10 |
| Gata6 | Surfactant metabolism | reactome | 30 |
| Gata6 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
Enhancer Associated Network
Expression of Target Genes for the Enhancer