About Enhancer
| Enhancer ID: | E_00154 |
| Species: | Homo sapiens |
| Position : | chr2:178806313-178806949   |
| Year: | 2024 |
| Title: | Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | dilated cardiomyopathy |
| PMID: | 39688912 |
| MONDO: | MONDO:0005021 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | human induced pluripotent stem cell-derived cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay; endogenous enhancer perturbation assay; disease variant analysis; Endogenous enhancer perturbation; TF binding assay; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | ATAC-seq; RNA-seq; single-nucleus RNA-seq; MPRA; whole genome sequencing |
| Low Throughput Method: | Luciferase reporter assay; CRISPR/Cas9 deletion; TF motif mutation; transgenic mouse enhancer assay; qPCR; sarcomere analysis; cardiac contractility assay; Site-directed/motif mutagenesis; Allele-specific reporter assay; Mouse genetic deletion/knock-in; In vivo phenotyping |
About Target Gene
| Target gene : | TTN |
About TF
| TF name : | NKX2-5 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| NKX2-5 | Physiological factors | reactome | 12 |
| NKX2-5 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| NKX2-5 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| NKX2-5 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
5 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00001 | chr2:178806313-178806949 | heart | cardiac muscle cell | dilated cardiomyopathy |
| E_00002 | chr2:178806313-178806949 | heart | cardiac muscle cell | dilated cardiomyopathy |
| E_00052 | chr2:178806313-178806949 | heart | cardiac muscle cell | NA |
| E_00200 | chr2:178806313-178806949 | heart | cardiac muscle cell | dilated cardiomyopathy |
| E_00387 | chr2:178806313-178806949 | heart | cardiac muscle cell | dilated cardiomyopathy |
Expression of Target Genes for the Enhancer