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TOP2B

Chr 3p24.2

DNA topoisomerase II beta

Aliases:
top2beta, TOPIIB
MANE:
ENST00000264331.9
OMIM: 126431 ↗NCBI: 7155 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

    0.72

  • neoplasm

    0.58

  • small cell lung carcinoma

    0.56

  • breast cancer

    0.55

  • small cell carcinoma

    0.49

  • cardiomyopathy

    0.47

  • acute myeloid leukemia

    0.44

  • neuroblastoma

    0.43

  • acute lymphoblastic leukemia

    0.42

  • neurodegenerative disease

    0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA topoisomerase 2-beta

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

Diseases associated with TOP2B

Curated MONDO disease pages that list TOP2B among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.