About Enhancer
| Enhancer ID: | E_01378 |
| Species: | Homo sapiens |
| Position : | chr2:178806313-178806949   |
| Year: | 2025 |
| Title: | Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 39688912 |
| MONDO: | |
| Tissue: | Heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | Cardiomyocytes |
| CVCL ID: | |
| Cell Type: | cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay |
| High Throughput Method: | ATAC-seq, Hi-C, ChIP-seq |
| Low Throughput Method: | Luciferase Reporter Assay, Transgenic Reporter Assay, CRISPR Knockout, CRISPRi, qRT-PCR |
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)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer