About Enhancer

Enhancer ID: E_01_027
Enhancer symbol: hRLD2 Enhancer
Species: Human
Position : chr13:43111372-43112072
Biosample name: MG-63
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: Osteopetrosis
DO: DOID:13533
Mesh: D010022
Distance from TSS: >2KB
Pubmed ID:  18202151
Enhancer experiment: EMSA,ChIP,RT-PCR
Enhancer experiment description: Previous work in our laboratory using chromatin immunoprecipitation (ChIP) techniques led to the identification of five evolutionarily conserved enhancer regions located at 16, 22, 60, 69, and 76 kb upstream of the mouse Rankl transcriptional start site (TSS) (24). An assessment of the transcriptional activity of each of these enhancer regions in transfection assays revealed that only the most distal, located at 76 kb, was capable of mediating response to 1,25-(OH)2D3 (24).

About Target gene

Target gene : TNFSF11(CD254,ODF,OPGL,OPTB2,RANKL,TNLG6B,TRANCE,hRANKL2,sOdf)
Strong evidence: --
Less strong evidence: EMSA
Target gene experiment description: These experiments define the cis acting element that mediates 1,25-(OH)2D3 response in the hRLD2 region of the RANKL gene.

About TF

TF name : VDR(NR1I1,PPP1R163)
TF experiment: ChIP-seq,siRNA
TF experiment description: To evaluate this possibility, we treated MG63 cells with either nontargeting or previously validated hVDR small interfering RNA (siRNA) for 48 h and then subjected the cells to ChIP analysis using antibodies to VDR, RXR, or IgG. The ability of the VDR siRNA to suppress VDR mRNA levels is documented in Fig. 4A The results in Fig. 4B reveal that VDR siRNA treatment does produce a decrease in the level of occupancy of both VDR and RXR at the hRLD1 enhancer but not at the TSS. Interestingly, this reduction in unliganded VDR at the hRLD1 enhancer also caused an approximate 50% reduction in the basal level of human RANKL mRNA expression in MG63 cells as well.

About Function

Enhancer function : Activity at this region in response to 1,25(OH)2D3 was associated with a significant increase in histone acetylation as well as the enhanced recruitment of RNA polymerase II.
Enhancer function experiment: ChIP
Enhancer function
experiment description:
Importantly, activity at this region in response to 1,25(OH)2D3 was associated with a significant increase in histone acetylation as well as the enhanced recruitment of RNA polymerase II. Both likely reflect the primary role of this enhancer in human RANKL gene expression.

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