A-GAMMA3'E A-gamma-globin 3' regulatory region [Homo sapiens (human)] - Gene

Summary

Gene symbol: A-GAMMA3'E
Gene description: A-gamma-globin 3' regulatory region
Gene type: biological region
Feature type(s): protein_bind
regulatory: DNase_I_hypersensitive_site, enhancer, insulator, 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
Also known as: A-gamma-e
Summary: This genomic region represents regulatory elements that exist downstream of the hemoglobin subunit gamma 1 (HBG1) gene, which is also referred to as the A-gamma gene within the beta-globin gene cluster on chromosome 11. Two elements have been defined in this region, an enhancer termed Enh and a silencer termed F. The enhancer was shown to be active by transfection assays in both erythroleukemia and non-erythroid cell lines, and it may include both positively- and negatively-acting components. Both the Enh and F elements can negatively regulate transcription at the beta-globin locus in an embryonic-specific manner in some transgenic contexts, though they are not required for developmental switching from fetal gamma-globin to adult beta-globin gene expression in transgenic mice. These elements form an erythroid DNase I hypersensitive region with multiple sub-sites. This region can bind to multiple proteins, including the matrix-associated factor SATB1, the HOXB2 transcription factor and the erythroid GATA-1 binding protein. Mutations in this region may result in increased gamma-globin gene expression. These elements are deleted in some beta-thalassemia deletions that also remove the downstream adult beta-globin genes. [provided by RefSeq, Mar 2017]
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Genomic context

Location:: 11p15.4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5245527..5248345)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5304892..5307710)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5266757..5269575)

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

What's a GeneRIF?

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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

Agamma 3' enhancer
HBG1 3' Enh and F elements

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.