About Enhancer

Enhancer ID: E_02_0928
Species: human
Position : chr12:48368959-48369159
Biosample name:
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: --
Pubmed ID:  23873758
Enhancer experiment: PCR,ChIP
Enhancer experiment description: Real?time PCR (qPCR) reactions for ChIP and ChIP reChIP were carried out using primers flanking the COL2A1 promoter start site(167) to (65), see illustration in Figure 6A. Additional analyses were performed on the Sox9?binding enhancer region of COL2A1(?2259) to (?2430). As a negative control, a distal set of primers flanking the intron 38 (?24148) to (?24368) of the COL2A1 gene was used, based on the protocol by Furlan?Magarill and colleagues.

About Target gene

Target gene : COL2A1(ANFH,AOM,COL11A3,SEDC,STL1)
Strong evidence: --
Less strong evidence: PCR,ChIP
Target gene experiment description: To understand the regulation of the active COL2A1 promoter, we performed ChIP assays using specific primers flanking the promoter start site and enhancer site within the first intron (illustrated in Fig. 6A). We found enhanced occupancy of the DNA?binding transcription factor SP1 on the promoter start site of 3D cultured cells, whereas passaged cells (P5) showed a slight but insignificant reduction of SP1 (Fig. 6B). Additionally, passaging significantly decreased Sox9 occupancy on the enhancer site.

About TF

TF name : SP1(SP1)SOX9(CMD1,CMPD1,SRA1,SRXX2,SRXY10)
TF experiment: ChIP
TF experiment description: Chromatin immunoprecipitation (ChIP) analyses of 3D cultures showed augmented levels of the DNA?binding transcription factor SP1, and the histone methyltransferase Set7/9, on the COL2A1 promoter site.

About Function

Enhancer function : Although Sox9 (SRY?related high mobility group?Box gene 9) has been shown to regulate the expression of the COL2A1 gene by binding the Enhancer within the first intron,numerous additional coactivators (eg, LSox5, Sox6, PGC1a, Notch) are involved in activa
Enhancer function experiment: PCR,ChIP
Enhancer function
experiment description:		 3D cultures also exhibited augmented mRNA and protein levels of the transcription factors SP1 and Sox9 (Fig. 5A. B), which are known to regulate COL2A1 expression by binding the DNA-motifs of the promoter and Enhancer regions, respectively.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
SP1 Activation of gene expression by SREBF (SREBP) reactome 42
SP1 AndrogenReceptor netpath 167
SP1 AP-1 transcription factor network pid 71
SP1 C-MYB transcription factor network pid 87
SP1 Direct p53 effectors pid 141
SP1 E2F transcription factor network pid 77
SP1 EGFR1 netpath 475
SP1 FOXA1 transcription factor network pid 45
SP1 FOXA2 and FOXA3 transcription factor networks pid 45
SP1 FOXM1 transcription factor network pid 43
SP1 HIF-1-alpha transcription factor network pid 67
SP1 HIF-2-alpha transcription factor network pid 34
SP1 Huntington disease panther 113
SP1 IL2 signaling events mediated by STAT5 pid 30
SP1 IL4-mediated signaling events pid 66
SP1 Leptin netpath 98
SP1 Oncogene Induced Senescence reactome 30
SP1 p73 transcription factor network pid 80
SP1 PPARA activates gene expression reactome 113
SP1 Regulation of nuclear SMAD2/3 signaling pid 82
SP1 Regulation of Telomerase pid 70
SP1 RNA polymerase II transcribes snRNA genes reactome 70
SP1 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription reactome 32
SP1 TGF_beta_Receptor netpath 220
SP1 Validated targets of C-MYC transcriptional repression pid 63
SP1 Validated transcriptional targets of AP1 family members Fra1 and Fra2 pid 37
SP1 Validated transcriptional targets of TAp63 isoforms pid 54
SP1 TGF-beta signaling pathway kegg 82
SP1 Huntington's disease kegg 182
SP1 Hs_Corticotropin-releasing_hormone_signaling_pathway_WP2355_90017 wikipathways 41
SP1 Hs_Leptin_signaling_pathway_WP2034_89856 wikipathways 37
SP1 Hs_Interleukin-11_Signaling_Pathway_WP2332_79525 wikipathways 17
SP1 Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 wikipathways 122
SP1 Hs_Estrogen_signaling_pathway_WP712_78491 wikipathways 13
SP1 Hs_Sudden_Infant_Death_Syndrome_(SIDS)_Susceptibility_Pathways_WP706_86078 wikipathways 33
SP1 Hs_TGF-beta_Signaling_Pathway_WP366_90028 wikipathways 67
SP1 Hs_AGE-RAGE_pathway_WP2324_89798 wikipathways 27
SP1 Hs_Androgen_receptor_signaling_pathway_WP138_79958 wikipathways 27
SP1 Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 wikipathways 107
SOX9 Deactivation of the beta-catenin transactivating complex reactome 42
SOX9 TGF_beta_Receptor netpath 220
SOX9 Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40
SOX9 Hs_Spinal_Cord_Injury_WP2431_87678 wikipathways 21

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