About Enhancer
| Enhancer ID: | E_01826 |
| Species: | Homo sapiens |
| Position : | chr4:144579000-144586000   |
| Year: | 2024 |
| Title: | Identification of a distal enhancer regulating hedgehog interacting protein gene in human lung epithelial cells |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | acute myeloid leukemia |
| PMID: | 38417378 |
| MONDO: | MONDO:0018874 |
| Tissue: | Bone marrow |
| Tissue Ontology ID: | UBERON:0002371 |
| Cell Source: | Kasumi-1 |
| CVCL ID: | CVCL_0589 |
| Cell Type: | acute myeloid leukemia cell |
| Cell Ontology ID: | CL:0001054 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay |
| High Throughput Method: | snATAC-seq, Hi-C, ChIP-seq |
| Low Throughput Method: | Luciferase Reporter Assay, ChIP-RT-qPCR, CRISPR Knockout/CRISPRi, RT-RT-qPCR, Western blot, 3C-RT-qPCR |
About Target Gene
| Target gene : | HHIP |
About TF
| TF name : | SMAD3 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SMAD3 | Alpha6Beta4Integrin | netpath | 74 |
| SMAD3 | AndrogenReceptor | netpath | 167 |
| SMAD3 | BMP signaling pathway ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 34 |
| SMAD3 | Downregulation of SMAD2/3:SMAD4 transcriptional activity | reactome | 23 |
| SMAD3 | Downregulation of TGF-beta receptor signaling | reactome | 26 |
| SMAD3 | EGFR1 | netpath | 475 |
| SMAD3 | Gene expression of smad6/7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 8 |
| SMAD3 | Gene expression of smad7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 7 |
| SMAD3 | HIF-1-alpha transcription factor network | pid | 67 |
| SMAD3 | ID | netpath | 38 |
| SMAD3 | Negative regulation of (transcription by R-smad:smad4) in TGF beta super family signaling pathway ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 21 |
| SMAD3 | Notch | netpath | 76 |
| SMAD3 | Regulation of cytoplasmic and nuclear SMAD2/3 signaling | pid | 20 |
| SMAD3 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| SMAD3 | Regulation of Telomerase | pid | 70 |
| SMAD3 | Signaling by Activin | reactome | 11 |
| SMAD3 | Signaling by NODAL | reactome | 19 |
| SMAD3 | SMAD2/3 MH2 Domain Mutants in Cancer | reactome | 7 |
| SMAD3 | SMAD2/3 Phosphorylation Motif Mutants in Cancer | reactome | 6 |
| SMAD3 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | reactome | 32 |
| SMAD3 | TGF-beta receptor signaling activates SMADs | reactome | 12 |
| SMAD3 | TGF-beta receptor signaling | pid | 53 |
| SMAD3 | TGF-beta signaling pathway | panther | 88 |
| SMAD3 | TGF-beta_super_family_signaling_pathway(canonical) ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 51 |
| SMAD3 | TGF_beta_Receptor | netpath | 220 |
| SMAD3 | TGFBR1 KD Mutants in Cancer | reactome | 7 |
| SMAD3 | TNFalpha | netpath | 274 |
| SMAD3 | Validated targets of C-MYC transcriptional activation | pid | 80 |
| SMAD3 | Validated targets of C-MYC transcriptional repression | pid | 63 |
| SMAD3 | Cell cycle | kegg | 124 |
| SMAD3 | Endocytosis | kegg | 201 |
| SMAD3 | Wnt signaling pathway | kegg | 135 |
| SMAD3 | TGF-beta signaling pathway | kegg | 82 |
| SMAD3 | Adherens junction | kegg | 70 |
| SMAD3 | Chagas disease | kegg | 103 |
| SMAD3 | Pathways in cancer | kegg | 321 |
| SMAD3 | Colorectal cancer | kegg | 63 |
| SMAD3 | Pancreatic cancer | kegg | 70 |
| SMAD3 | Hs_Cell_Cycle_WP179_89516 | wikipathways | 33 |
| SMAD3 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| SMAD3 | Hs_Integrated_Cancer_Pathway_WP1971_82939 | wikipathways | 33 |
| SMAD3 | Hs_Mesodermal_Commitment_Pathway_WP2857_87780 | wikipathways | 47 |
| SMAD3 | Hs_TGF-beta_Signaling_Pathway_WP366_90028 | wikipathways | 67 |
| SMAD3 | Hs_Androgen_receptor_signaling_pathway_WP138_79958 | wikipathways | 27 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer