Aliases for LOC111674466 Gene
External Ids for LOC111674466 Gene
- Entrez Gene: 111674466
This genomic region represents a DNase I hypersensitive site, DHS-20.9kb, located approximately 20 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It contains enhancer-blocking elements that bind the CCCTC-binding factor (CTCF) and POU class 2 homeobox 1 (Pou2f1/Oct1) transcription factor. It also associates with the cohesin complex subunit Rad21, and with the transcription factors FOXA1/A2 and HNF1, where recruitment of HNF1 requires FOXA factor presence. This region is a structural element involved in active locus 3D structure, where it can physically interact with the CFTR promoter and other CFTR regulatory elements, including the intron 19 and +48.9 kb elements, and those interactions depend on CTCF and Rad21 presence. Deletion of this region by CRISPR/Cas9 editing results in a redistribution of architectural proteins at other CFTR regulatory sites, mainly at the -80.9 kb, intron 1 and +48.9 kb sites, whereby an active locus 3D structure is maintained. [provided by RefSeq, Nov 2018]
GeneCards Summary for LOC111674466 Gene
LOC111674466 (DNase I Hypersensitive Site -20.9 Kb Upstream Of CFTR) is a Biological Region gene. Diseases associated with LOC111674466 include Cystic Fibrosis.