About Enhancer

Enhancer ID: E_01_180
Enhancer symbol: --
Species: Human
Position : chr12:48368875-48369590
Biosample name: 10T1/2,MC615 Cells,MCF-7
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: Osteoarthritis
DO: DOID:8398
Mesh: D010003
Distance from TSS: Intron
Pubmed ID:  25081415
Enhancer experiment: RT-PCR,ChIP,Luciferase Reporter Assay,EMSA
Enhancer experiment description: Thus, several binding sites of the intronic enhancer have been shown to interact with transcription factors, such as Sox-9,Sox-6, and L-Sox-5, acting cooperatively and consequently activating expression of COL2A1 in 10T1/2 and MC615 cells.Therefore, in order to validate our in vitro hypoth_x0002_esis and to determine whether these transcription factors were effectively able to bind in vivo to Col2a1-specific enhancer,we performed ChIP assays in primary chondrocytes using primers mapping the +2,383/+2,611-bp region of COL2A1 first intron. This region includes a Sox-9 cis-element (+2,384/+2,404 bp), one HMG binding site (+2,388/+2,394 bp), and one Sp1/Sp3 binding sequence (+2,440/+2,485 bp) but does not harbor ERE cis-sequence.

About Target gene

Target gene : COL2A1(ANFH,AOM,COL11A3,SEDC,STL1)
Strong evidence: --
Less strong evidence: ChIP,EMSA
Target gene experiment description: Altogether, these EMSA assays indicate that 17β-E2 and hERα66 enhance transcription of COL2A1 by increasing the binding activity of Sp1 and to a lesser extent of Sp3, not only to COL2A1 promoter but also to COL2A1-specific enhancer.

About TF

TF name : SP1(SP1)SP3(SPR2)SOX9(CMD1,CMPD1,SRA1,SRXX2,SRXY10)SOX6(HSSOX6,SOXD)
TF experiment: ChIP,RT-PCR,EMSA
TF experiment description: To identify what protein partners could be involved in the ERα66 recruitment, we performed ReChIP experiments using an anti-ERα antibody. Our data showed that ERα66 was bound indirectly to Col2a1 Enhancer through protein–protein interactions with Sp1, Sp3, and Sox-9 transcription factors in primary as well as dedifferentiated articular chondrocytes.

About Function

Enhancer function : Several binding sites of the intronic Enhancer have been shown to interact with transcription factors, such as Sox-9,Sox-6,and L-Sox-5, acting cooperatively and consequently activating expression of COL2A1 in 10T1/2 and MC615 cells.
Enhancer function experiment: ChIP,EMSA
Enhancer function
experiment description:
By contrast to transient transfection data obtained with reporter construct pGL2-3.316 kb, these last results suggest that Sox-9/Sox-6/L-Sox-5, as well as the COL2A1 enhancer region, might also participate in the anabolic effect of 17β-E2 on COL2A1 in primary and dedifferentiated chondrocytes since the hormone significantly increases their DNA-binding activity to this region.

About SNP

SNP ID: --
SNP position: --
SNP experiment: --

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