About Enhancer
| Enhancer ID: | E_02_0971 |
| Species: | human |
| Position : | chr7:103823354-103846754   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Haploinsufficiency |
| Pubmed ID: | 21454523 |
| Enhancer experiment: | ChIP,qRT-PCR,3C |
| Enhancer experiment description: | The presence of the cohesin holo-complex was confirmed by ChIP using antibodies specific for SMC1 and SA1.Most notably, HS2 functions as an enhancer, and the outer HS5 functions as an insulator. B, adult ?-globin gene induction following DMSO treatment. End point RT-PCR of ?-major gene induction and q-RT-PCR analysis of ?-major and ?-minor genes in comparison to GAPDH were examined over 4 days of DMSO treatment. Q-RT-PCR values were normalized to ribonuclease/angiogenin inhibitor 1 (rnh1). |
About Target gene
| Target gene : | Hbb-y(Ey,Hby) |
| Strong evidence: | 3C |
| Less strong evidence: | ChIP |
| Target gene experiment description: | 3C and ChIP-loop analysis of the HS2 and ?-major promoter interaction at 4 days after DMSO treatment. The interactions of a region containing HS4 and HS5 (HS4/5) with either 3?HS1 or HS-62 are compared. |
About TF
| TF name : | Nipbl(Idn3)Ctcf(MRD21)Nfe2(NF-E2,p45) |
| TF experiment: | ChIP |
| TF experiment description: | Differentiation-induced Cohesin and Nipbl Binding at the ?-globin Locus Is Associated with LCR Enhancer-globin Gene Interactions.,ChIP analysis of cohesin (Rad21),Nipbl,CTCF, and NF-E2 binding to the ?-globin locus. |
About Function
| Enhancer function : | Nipped-B-like (Nipbl) bind to the locus control region (LCR) at the CTCF insulator and distal enhancer regions as well as at the specific target globin gene that undergoes activation upon differentiation |
| Enhancer function experiment: | ChIP,3C,PCR |
| Enhancer function experiment description: |
The results indicate that cohesin binds to these regions when they interact. Taken together, cohesin and Nipbl are recruited not only to the HS5 insulator, but also to the Enhancer and the active _x005f_x0001_-globin gene regions. This correlates with the induction of the interaction of these domains and ?-globin gene activation. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| Nipbl | Cohesin Loading onto Chromatin | reactome | 10 |
| Nipbl | Cell cycle - yeast | kegg | 66 |
| Ctcf | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| Ctcf | TGF_beta_Receptor | netpath | 220 |
| Nfe2 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene