LOC109951029 delta-globin 5' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC109951029
Gene description: delta-globin 5' regulatory region
Gene type: biological region
Feature type(s): misc_structure
protein_bind
regulatory: enhancer, promoter, silencer, transcriptional_cis_regulatory_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This genomic location represents the 5' regulatory region of the hemoglobin subunit delta (HBD) gene, which is also referred to as the delta-globin gene within the beta-globin gene cluster on chromosome 11. This region includes the HBD gene promoter, a pyrimidine-rich region termed pyr that functions in developmental globin gene switching and forms non-B-DNA structure, and a silencer region termed R. The promoter region is active in adult-stage erythroid cells, but it has much lower activity compared to the paralogous beta-globin (HBB) promoter due to the presence of a defective CACCC box and lack of binding of the erythroid EKLF transcription factor. Mutations in this region result in beta-thalassemias. This region is deleted in some beta-hemoglobinopathies with adult beta-globin expression defects, including some hereditary persistence of fetal hemoglobin (HPFH) deletions and the Corfu delta-beta thalassemia deletion that results in high levels of fetal hemoglobin in homozygotes. [provided by RefSeq, Mar 2017]
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Genomic context

Location:: 11p15.4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5234433..5239383)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5293806..5298756)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5255663..5260613)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

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General gene information

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Other Names

HBD 5' regulatory elements
delta-globin promoter, R silencer and pyrimidine-rich region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.