About Enhancer
| Enhancer ID: | E_01034 |
| Species: | Homo sapiens |
| Position : | chr6:37883250-37883831   |
| Year: | 2014 |
| Title: | Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants. |
| Genome Build: | hg18 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | type 2 diabetes mellitus |
| PMID: | 24413736 |
| MONDO: | MONDO:0005148 |
| Tissue: | islet of Langerhans |
| Tissue Ontology ID: | UBERON:0000006 |
| Cell Source: | primary human pancreatic islets |
| Experiment Type: | Enhancer activity assay; TF binding assay; Allele-specific functional assay; Genetic risk-variant analysis; Disease-variant functional analysis |
| High Throughput Method: | PDX1 ChIP-seq; FOXA2 ChIP-seq; NKX2-2 ChIP-seq; NKX6-1 ChIP-seq; H3K4me1 ChIP-seq; H3K27ac ChIP-seq; FAIRE-seq; RNA-seq |
| Low Throughput Method: | allele-specific luciferase reporter assay in MIN6 beta cells; EMSA; NEUROD1 supershift |
About Target Gene
| Target gene : | ZFAND3 |
About TF
| TF name : | NKX2-2 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| NKX2-2 | Regulation of gene expression in beta cells | reactome | 17 |
| NKX2-2 | Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells | reactome | 5 |
| NKX2-2 | Maturity onset diabetes of the young | kegg | 25 |
| NKX2-2 | Hs_Dopaminergic_Neurogenesis_WP2855_87239 | wikipathways | 19 |
Enhancer Associated Network
Overlapping Enhancers (hg18)
4 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01032 | chr6:37883250-37883831 | islet of Langerhans | NA | type 2 diabetes mellitus |
| E_01033 | chr6:37883250-37883831 | islet of Langerhans | NA | type 2 diabetes mellitus |
| E_01035 | chr6:37883250-37883831 | islet of Langerhans | NA | type 2 diabetes mellitus |
| E_01036 | chr6:37883250-37883831 | islet of Langerhans | NA | type 2 diabetes mellitus |
Expression of Target Genes for the Enhancer