About Enhancer
| Enhancer ID: | E_00712 |
| Species: | Homo sapiens |
| Position : | chr3:46186503-46187707   |
| Year: | 2025 |
| Title: | RUNX2 Phase Separation Mediates Long-Range Regulation Between Osteoporosis-Susceptibility Variant and XCR1 to Promote Osteoblast Differentiation. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | osteoporosis |
| PMID: | 39704037 |
| MONDO: | MONDO:0005298 |
| Tissue: | bone element |
| Tissue Ontology ID: | UBERON:0001474 |
| Cell Source: | Primary human osteoblast |
| Cell Type: | osteoblast |
| Cell Ontology ID: | CL:0000062 |
| Experiment Type: | Enhancer activity assay; Chromatin interaction assay; Functional perturbation assay; TF binding assay; Disease-variant functional analysis |
| High Throughput Method: | GWAS; GTEx eQTL analysis; transcription-factor motif analysis |
| Low Throughput Method: | Dual-luciferase reporter assay; CRISPR-Cas9 enhancer deletion; 3C-qPCR; ChIP-qPCR; RT-qPCR; Western blot |
About Target Gene
| Target gene : | XCR1 |
About TF
| TF name : | RUNX2 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| RUNX2 | AndrogenReceptor | netpath | 167 |
| RUNX2 | FGF signaling pathway | pid | 55 |
| RUNX2 | Leptin | netpath | 98 |
| RUNX2 | Notch-mediated HES/HEY network | pid | 48 |
| RUNX2 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| RUNX2 | Regulation of retinoblastoma protein | pid | 67 |
| RUNX2 | TGF_beta_Receptor | netpath | 220 |
| RUNX2 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| RUNX2 | Hs_MAPK_Signaling_Pathway_WP382_79951 | wikipathways | 58 |
| RUNX2 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| RUNX2 | Hs_Role_of_Osx_and_miRNAs_in_tooth_development_WP3971_91525 | wikipathways | 9 |
| RUNX2 | Hs_Bone_Morphogenic_Protein_(BMP)_Signalling_and_Regulation_WP1425_86082 | wikipathways | 6 |
| RUNX2 | Hs_Focal_Adhesion-PI3K-Akt-mTOR-signaling_pathway_WP3932_91101 | wikipathways | 8 |
Enhancer Associated Network
Expression of Target Genes for the Enhancer