LOC111099027 transmembrane protease serine 2 breakpoint cluster recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111099027
Gene description: transmembrane protease serine 2 breakpoint cluster recombination region
Gene type: biological region
Feature type(s): misc_recomb: mitotic
protein_bind
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 mitotic DNA recombination with another region, the ERG breakpoint region, located on the q arm of chromosome 21, about 3 Mb centromere-proximal to this region. Recombination between these two regions can produce gene fusions involving the transmembrane protease, serine 2 (TMPRSS2) gene and the ERG, ETS transcription factor (ERG) gene, and deletions of the intervening sequence. Complex rearrangements have also been observed. This gene fusion is commonly found in prostate cancer cells. The double-strand breaks that lead to this rearrangement are mediated by the DNA topoisomerase II beta (TOP2B) protein, and TOP2B cleavage sites have been found adjacent to individual fusion breakpoints. Studies indicate that androgen signaling can induce proximity of the TMPRSS2 and ERG genomic loci, possibly influencing break location. Chromosomal architecture, specifically chromosome loop anchors, also plays a role in determining break location, as these regions have been shown to be more susceptible to cleavage by TOP2B. Molecular analysis shows that many breakpoint junctions share microhomology, or, contained small insertions at the junctions, while others are the result of blunt-end fusions. This record shows the genomic range over which different breakpoints have been found, as well as the location of some specific breakpoints and regions enriched for dihydrotestosterone-dependent DNA topoisomerase II beta binding. [provided by RefSeq, Sep 2017]
Annotation information: Note: This locus has been reviewed for its involvement in coronavirus biology, and is involved in host gene recombination.
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Genomic context

Location:: 21q22.3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (41485268..41507010)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (39874806..39896543)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (42857195..42878937)

Chromosome 21 - NC_000021.9 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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General gene information

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Other Names

TMPRSS2 breakpoint cluster 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.