TOP2B Chromosome 3
DNA topoisomerase II beta
Upload your DNA to see your personal genotypes for variants in TOP2B.
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
RS147912364
Conflicting classifications of pathogenicity
Health Risk
RS1702479861
Conflicting classifications of pathogenicity
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Health Risk
RS187350468
Conflicting classifications of pathogenicity
TOP2B-related disorder, TOP2B-related disorder
Health Risk
RS200329755
Conflicting classifications of pathogenicity
Health Risk
RS201071120
Conflicting classifications of pathogenicity
Health Risk
RS202236498
Conflicting classifications of pathogenicity
Health Risk
RS2125373730
Conflicting classifications of pathogenicity
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Health Risk
RS376162589
Conflicting classifications of pathogenicity
Health Risk
RS61751635
Conflicting classifications of pathogenicity
Health Risk
RS777837072
Conflicting classifications of pathogenicity
Health Risk
RS944696965
Conflicting classifications of pathogenicity
Health Risk
RS2125376009
Pathogenic
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Health Risk
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 |