Aliases for LOC110006319 Gene
External Ids for LOC110006319 Gene
- Entrez Gene: 110006319
This genomic location represents the 3' regulatory region of the hemoglobin subunit beta (HBB) gene, which is also referred to as the adult beta-globin gene within the beta-globin gene cluster on chromosome 11. This region includes two enhancer elements, one within the 3' coding region of the gene and the other located approximately 0.5 kb downstream of the poly(A) site. Both of those elements may be required for correct developmental expression of the beta-globin genes, in addition to the locus control region (LCR) at the 5' end of the beta-globin gene cluster. Both elements coincide with DNase I hypersensitive sites (HSs) in erythroid cells. A scaffold or matrix attachment region overlaps the element located within the gene, while the 3' enhancer region can bind erythroid transcription factors and may also be required for regulation of replication initiation at the replication origin (IR) in the vicinity of the HBB gene. In addition, a region overlapping the enhancer within intron 2 of the HBB gene produces a polypyrimidine RNA that forms a DNA-RNA triple helix with 5'HS2 of the LCR, where triplex formation attenuates binding of transcription factors and RNA polymerase II to the LCR, resulting in reduced expression of the beta-globin genes. This genomic region is deleted in some beta-hemoglobinopathies with adult beta-globin expression defects, including some hereditary persistence of fetal hemoglobin (HPFH) deletions. [provided by RefSeq, Dec 2019]
GeneCards Summary for LOC110006319 Gene
LOC110006319 (Beta-Globin Gene 3' Regulatory Region) is a Biological Region gene. Diseases associated with LOC110006319 include Beta-Thalassemia, Dominant Inclusion Body Type and Methemoglobinemia, Beta Type.