LOC106099065 HBG2 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106099065
Gene description: HBG2 recombination region
Gene type: biological region
Feature type(s): misc_recomb: non_allelic_homologous
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region is known to undergo non-allelic homologous recombination (NAHR) with a similar region, the HBG1 (hemoglobin, gamma A) recombination region, which is located about 4 kb upstream of this region. Multiple genomic rearrangements in this region have been observed, including deletions and expansions of different sizes. The exact exchange regions and the molecular basis for all the different genomic rearrangements has not been determined, and not all recombination exchange regions are represented here. The region represented here is composed of two sub-regions, named a' and b' that have been identified as NAHR exchange sites in different individuals. NAHR between globin gene family members can lead to genomic rearrangements that can result in hemoglobinopathies and/or thalassemias. [provided by RefSeq, Sep 2015]
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Genomic context

Location:: 11p15.5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5253987..5255252)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5313344..5314609)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5275217..5276482)

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

hemoglobin, gamma G recombination 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.