About Enhancer
| Enhancer ID: | E_02707 |
| Species: | Homo sapiens |
| Position : | chr20:49345710-49345732   |
| Year: | 2025 |
| Title: | Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | familial ST-depression syndrome |
| PMID: | 40208226 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | AC16 [Human hybrid cardiomyocyte] |
| CVCL ID: | CVCL_4U18 |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay; Chromatin interaction assay; Disease-variant functional analysis |
| High Throughput Method: | WGS, RNA-seq, ATAC-seq; RNA-seq; whole-genome sequencing |
| Low Throughput Method: | Luciferase reporter assay, CRISPRa, ChIP-RT-qPCR; 4C |
About Target Gene
| Target gene : | KCNB1 |
About TF
| TF name : | MEF2A |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| MEF2A | CDO in myogenesis | reactome | 29 |
| MEF2A | ERK/MAPK targets | reactome | 17 |
| MEF2A | Signaling mediated by p38-alpha and p38-beta | pid | 35 |
| MEF2A | TGF_beta_Receptor | netpath | 220 |
| MEF2A | Hs_p38_MAPK_Signaling_Pathway_WP400_72084 | wikipathways | 28 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer