About Enhancer

Enhancer ID: E_01_0281
Species: human
Position : chr10:121475640-121477640
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Osteosarcoma
Pubmed ID:  31509720
Enhancer experiment: Western blot,PCR,Flow cytometry
Enhancer experiment description: Fibroblast growth factor receptor 2 (FGFR2) in craniofacial bones mediates osteoprogenitor proliferation, differentiation, and apoptosis.

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: Fibroblast growth factor receptor 2 (FGFR2) in craniofacial bones mediates osteoprogenitor proliferation, differentiation, and apoptosis.;That is, rs2162540 was significantly associated with skeletal class II malocclusion, while others were associated with skeletal class III malocclusion. Electrophoretic mobility shift assay and chromatin immunoprecipitation analysis showed that the common genotypes of rs2981578 and rs10736303 contained the binding sites of RUNX2 and SMAD4.;That is, rs2162540 was significantly associated with skeletal class II malocclusion, while others were associated with skeletal class III malocclusion. Electrophoretic mobility shift assay and chromatin immunoprecipitation analysis showed that the common genotypes of rs2981578 and rs10736303 contained the binding sites of RUNX2 and SMAD4.

About TF

TF name : FGFR2RUNX2(AML3,Cbf,Cbfa-1,Cbfa1,LS3,Osf2,PEBP2aA,Pebp2a1,Pebpa2a)SMAD4(DPC4,JIP,MADH4,MYHRS)
TF experiment: Western blot,PCR,Flow cytometry
TF experiment description: Fibroblast growth factor receptor 2 (FGFR2) in craniofacial bones mediates osteoprogenitor proliferation, differentiation, and apoptosis.;That is, rs2162540 was significantly associated with skeletal class II malocclusion, while others were associated with skeletal class III malocclusion. Electrophoretic mobility shift assay and chromatin immunoprecipitation analysis showed that the common genotypes of rs2981578 and rs10736303 contained the binding sites of RUNX2 and SMAD4.;That is, rs2162540 was significantly associated with skeletal class II malocclusion, while others were associated with skeletal class III malocclusion. Electrophoretic mobility shift assay and chromatin immunoprecipitation analysis showed that the common genotypes of rs2981578 and rs10736303 contained the binding sites of RUNX2 and SMAD4.

About Function

Enhancer function : Fibroblast growth factor receptor 2 (FGFR2) in craniofacial bones mediates osteoprogenitor proliferation, differentiation, and apoptosis.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 Fibroblast growth factor receptor 2 (FGFR2) in craniofacial bones mediates osteoprogenitor proliferation, differentiation, and apoptosis.

About SNP

SNP ID: rs2162540

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
FGFR2 Activated point mutants of FGFR2 reactome 17
FGFR2 AKT(PKB)-Bad signaling ( EPO signaling pathway(JAK2 STAT1 STAT3 STAT5) ) inoh 173
FGFR2 AKT(PKB)-Bad signaling ( IL-7 signaling(JAK1 JAK3 STAT5) ) inoh 173
FGFR2 Constitutive Signaling by Aberrant PI3K in Cancer reactome 61
FGFR2 Drosophila Toll-like receptor signaling ( Drosophila Toll-like receptor signaling ) inoh 236
FGFR2 FGF signaling pathway ( FGF signaling pathway ) inoh 44
FGFR2 FGF signaling pathway panther 99
FGFR2 FGF signaling pathway pid 55
FGFR2 FGFR2 alternative splicing reactome 27
FGFR2 FGFR2b ligand binding and activation reactome 10
FGFR2 FGFR2c ligand binding and activation reactome 13
FGFR2 FRS-mediated FGFR2 signaling reactome 25
FGFR2 Negative regulation of FGFR2 signaling reactome 27
FGFR2 Phospholipase C-mediated cascade; FGFR2 reactome 18
FGFR2 PI-3K cascade:FGFR2 reactome 23
FGFR2 PI3K Cascade reactome 36
FGFR2 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling reactome 83
FGFR2 PIP3 activates AKT signaling reactome 81
FGFR2 Positive regulation of (Transcription of SOCS by STAT dimer) in JAK STAT pathway ( JAK-STAT pathway and regulation pathway Diagram ) inoh 178
FGFR2 RAF/MAP kinase cascade reactome 116
FGFR2 SHC-mediated cascade:FGFR2 reactome 26
FGFR2 SHP2 signaling pid 60
FGFR2 Signaling by FGFR2 IIIa TM reactome 19
FGFR2 Signaling by FGFR2 in disease reactome 27
FGFR2 Syndecan-1-mediated signaling events pid 42
FGFR2 Syndecan-2-mediated signaling events pid 38
FGFR2 Syndecan-3-mediated signaling events pid 23
FGFR2 VEGF signaling pathway ( VEGF signaling pathway ) inoh 183
FGFR2 MAPK signaling pathway kegg 264
FGFR2 Endocytosis kegg 201
FGFR2 Regulation of actin cytoskeleton kegg 210
FGFR2 Pathways in cancer kegg 321
FGFR2 Prostate cancer kegg 85
FGFR2 Hs_Angiogenesis_WP1539_88983 wikipathways 17
FGFR2 Hs_BMP_Signaling_Pathway_in_Eyelid_Development_WP3927_90735 wikipathways 11
FGFR2 Hs_Cardiac_Hypertrophic_Response_WP2795_85087 wikipathways 23
FGFR2 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56
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
SMAD4 ALK1 signaling events pid 26
SMAD4 ALK2 signaling events pid 11
SMAD4 BMP receptor signaling pid 42
SMAD4 BMP signaling pathway ( TGF-beta_BMP Diagram(MolecularVariation) ) inoh 34
SMAD4 BMP Signalling Pathway humancyc 5
SMAD4 BMP2 signaling pathway(through Smad) ( TGF-beta_BMP Diagram(MolecularVariation) ) inoh 13
SMAD4 Downregulation of SMAD2/3:SMAD4 transcriptional activity reactome 23
SMAD4 Gene expression of smad6/7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) inoh 8
SMAD4 Gene expression of smad7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) inoh 7
SMAD4 HIF-1-alpha transcription factor network pid 67
SMAD4 LIF signaling pathway ( LIF signaling(JAK1 JAK2 STAT3) ) inoh 10
SMAD4 LKB1 signaling events pid 43
SMAD4 Negative regulation of (transcription by R-smad:smad4) in TGF beta super family signaling pathway ( TGF-beta_super_family_signaling_pathway(canonical) ) inoh 21
SMAD4 Regulation of cytoplasmic and nuclear SMAD2/3 signaling pid 20
SMAD4 Regulation of nuclear SMAD2/3 signaling pid 82
SMAD4 Signaling by Activin reactome 11
SMAD4 Signaling by BMP reactome 23
SMAD4 Signaling by NODAL reactome 19
SMAD4 Signaling with Wnt (Canonical) ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 47
SMAD4 Signaling with Wnt (Canonical) ( Canonical Wnt signaling pathway Diagram ) inoh 47
SMAD4 Signaling with Wnt (Canonical) ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 47
SMAD4 Signaling with Wnt (Canonical) ( Mammalian Wnt signaling pathway Diagram ) inoh 47
SMAD4 Signaling with Wnt (Canonical) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 47
SMAD4 Signaling with Wnt (Mammal) ( Mammalian Wnt signaling pathway Diagram ) inoh 47
SMAD4 Signaling with Wnt (Xenopus) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 19
SMAD4 SMAD2/3 MH2 Domain Mutants in Cancer reactome 7
SMAD4 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription reactome 32
SMAD4 TGF-beta receptor signaling activates SMADs reactome 12
SMAD4 TGF-beta receptor signaling pid 53
SMAD4 TGF-beta signaling pathway panther 88
SMAD4 TGF-beta_super_family_signaling_pathway(canonical) ( TGF-beta_BMP Diagram(MolecularVariation) ) inoh 51
SMAD4 TGF_beta_Receptor netpath 220
SMAD4 Transcriptional regulation of pluripotent stem cells reactome 28
SMAD4 Validated nuclear estrogen receptor alpha network pid 65
SMAD4 Validated targets of C-MYC transcriptional activation pid 80
SMAD4 Validated targets of C-MYC transcriptional repression pid 63
SMAD4 Wnt signaling pathway panther 250
SMAD4 Cell cycle kegg 124
SMAD4 Wnt signaling pathway kegg 135
SMAD4 TGF-beta signaling pathway kegg 82
SMAD4 Adherens junction kegg 70
SMAD4 Pathways in cancer kegg 321
SMAD4 Colorectal cancer kegg 63
SMAD4 Pancreatic cancer kegg 70
SMAD4 Chronic myeloid leukemia kegg 69
SMAD4 Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 wikipathways 122
SMAD4 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
SMAD4 Hs_Heart_Development_WP1591_90186 wikipathways 28
SMAD4 Hs_Mesodermal_Commitment_Pathway_WP2857_87780 wikipathways 47
SMAD4 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56
SMAD4 Hs_TGF-beta_Signaling_Pathway_WP366_90028 wikipathways 67

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer

Enhancer associated SNPs