About Enhancer
| Enhancer ID: | E_02673 |
| Species: | Mus musculus |
| Position : | chr11:57660605-57661348   |
| Year: | 2019 |
| Title: | Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function. |
| Genome Build: | mm9 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 31366290 |
| Tissue: | left cardiac ventricle |
| Tissue Ontology ID: | UBERON:0002084 |
| Cell Source: | genetically engineered mouse embryos and adult mice |
| Cell Type: | ventricular cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | In vivo enhancer activity assay; TF binding assay; Functional enhancer deletion assay; Regulatory variant functional assay |
| High Throughput Method: | 1000 Genomes variant analysis; comparative genomics |
| Low Throughput Method: | Transgenic lacZ reporter; CRISPR-Cas9 enhancer deletion; EMSA; SNP knock-in; RT-qPCR; ECG; histology |
About Target Gene
| Target gene : | Hand1 |
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 (mm9)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02629 | chr11:57660605-57661348 | heart left ventricle | cardiac muscle cell | acute promyelocytic leukemia |
Expression of Target Genes for the Enhancer