TOP2B Chromosome 3

DNA topoisomerase II beta
15 variants 15 Health Risk

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What This Gene Does
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Topoisomerases
Locus Type
gene with protein product
Location
3p24.2
Ensembl
ENSG00000077097
Associated Conditions (5)
B-cell immunodeficiency
distal limb anomalies
and urogenital malformations
TOP2B-related disorder
Autism spectrum disorder
Key Variants
All Variants (15)
RSID Category Clinical Significance Conditions
RS147912364 Health Risk Conflicting classifications of pathogenicity
RS1702479861 Health Risk Conflicting classifications of pathogenicity B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
RS187350468 Health Risk Conflicting classifications of pathogenicity TOP2B-related disorder, TOP2B-related disorder
RS200329755 Health Risk Conflicting classifications of pathogenicity
RS201071120 Health Risk Conflicting classifications of pathogenicity
RS202236498 Health Risk Conflicting classifications of pathogenicity
RS2125373730 Health Risk Conflicting classifications of pathogenicity B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
RS376162589 Health Risk Conflicting classifications of pathogenicity
RS61751635 Health Risk Conflicting classifications of pathogenicity
RS777837072 Health Risk Conflicting classifications of pathogenicity
RS944696965 Health Risk Conflicting classifications of pathogenicity
RS2125376009 Health Risk Pathogenic B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
RS2125377898 Health Risk Pathogenic B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
RS2125377904 Health Risk Pathogenic B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
RS886039770 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
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