DNA topoisomerase 2-beta
Function
Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation.
Involvement in disease
Defects in TOP2B may be involved in global developmental delay with autism spectrum disorder (ASD).
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
BILU
An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
(Microbial infection) Deubiquitinated by Epstein-Barr virus BPLF1; leading to stabilized SUMOylated TOP2A trapped in cleavage complexes, which halts the DNA damage response to TOP2A-induced double-strand DNA breaks.
SUMOylated.
Sequence Similarities
Belongs to the type II topoisomerase family.
Tissue Specificity
Expressed in the tonsil, spleen, lymph node, thymus, skin, pancreas, testis, colon, kidney, liver, brain and lung (PubMed:9155056). Also found in breast, colon and lung carcinomas, Hodgkin's disease, large-cell non-Hodgkin's lymphoma, lymphocytic lymphomas and seminomas (PubMed:9155056).
Cellular localization
- Nucleus
- Nucleolus
- Nucleus
- Nucleoplasm
- Nucleus
Alternative names
DNA topoisomerase 2-beta, TOP2B