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... See more...

Aliases for TOP2B Gene

Aliases for TOP2B Gene

  • DNA Topoisomerase II Beta 2 3 5
  • Topoisomerase (DNA) II Beta 180kDa 2 3
  • DNA Topoisomerase II, Beta Isozyme 3 4
  • DNA Topoisomerase 2-Beta 3 4
  • Top2beta 2 3
  • TOPIIB 2 3
  • DNA Topoisomerase II, 180 KD 3
  • U937 Associated Antigen 3
  • Topoisomerase II Beta 3
  • Topoisomerase IIb 3
  • Antigen MLAA-44 3
  • Topo II Beta 3
  • EC 50
  • EC 4
  • TOP2B 5

External Ids for TOP2B Gene

Previous GeneCards Identifiers for TOP2B Gene

  • GC03M025346
  • GC03M025489
  • GC03M025614
  • GC03M025584
  • GC03M025639

Summaries for TOP2B Gene

Entrez Gene Summary for TOP2B Gene

  • 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]

GeneCards Summary for TOP2B Gene

TOP2B (DNA Topoisomerase II Beta) is a Protein Coding gene. Diseases associated with TOP2B include B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome and Autism Spectrum Disorder. Among its related pathways are Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and SUMOylation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and enzyme binding. An important paralog of this gene is TOP2A.

UniProtKB/Swiss-Prot Summary for TOP2B Gene

  • 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.

Tocris Summary for TOP2B Gene

  • Topoisomerases are ubiquitously expressed enzymes that overcome topological problems in genomic DNA, which can result from DNA replication, transcription and repair. Common problems such as knots and tangles are often resolved by topoisomerases.

Gene Wiki entry for TOP2B Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOP2B Gene

Genomics for TOP2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOP2B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J025662 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 269.1 +0.8 848 5.3 SP1 IKZF1 MYC ZNF600 ZNF592 CEBPA BRCA1 POLR2A YY1 NONO TOP2B HSALNG0024743 MIR4442 RF00017-3561 HSALNG0024742 RARB
GH03J025854 Enhancer 0.8 Ensembl ENCODE 11.9 -189.8 -189793 1.8 ZNF217 CTBP1 NFE2 GATA3 TCF7L2 EHMT2 FOXA1 MAFF DPF2 NCOA3 TOP2B NGLY1 OXSM HSALNG0024754 piR-32559-279 LRRC3B
GH03J024854 Enhancer 0.6 Ensembl 12.9 +810.6 810607 0.2 ZNF600 FEZF1 ZNF585B ZNF843 KLF16 ZNF133 TRIM28 ZNF785 BCL6B OSR2 TOP2B RARB HSALNG0024730 ENSG00000237838
GH03J025046 Enhancer 0.6 Ensembl ENCODE CraniofacialAtlas 12.9 +619.4 619352 1.7 ZNF585B TOP2B RF00001-196 RNA5SP125 HSALNG0024732 RARB ENSG00000237838
GH03J025603 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.3 +60.7 60706 2.8 JUND ZNF592 ATF3 YY1 ARNT FOXA2 RXRA ZNF316 ZBTB33 NFE2 TOP2B AB372666 lnc-TOP2B-1 RARB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOP2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOP2B

Genomic Locations for TOP2B Gene

Latest Assembly
67,003 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
67,003 bases
Minus strand

(GRCh37/hg19 by Ensembl)
66,924 bases
Minus strand

Genomic View for TOP2B Gene

Genes around TOP2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOP2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOP2B Gene

Proteins for TOP2B Gene

  • Protein details for TOP2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA topoisomerase 2-beta
    Protein Accession:
    Secondary Accessions:
    • Q13600
    • Q9UMG8
    • Q9UQP8

    Protein attributes for TOP2B Gene

    1626 amino acids
    Molecular mass:
    183267 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homodimer (PubMed:21778401). Interacts with KIAA1210 (By similarity). Interacts with PLSCR1 (PubMed:19690332).
    • Eukaryotic topoisomerase I and II can relax both negative and positive supercoils, whereas prokaryotic enzymes relax only negative supercoils.

    Three dimensional structures from OCA and Proteopedia for TOP2B Gene

    Alternative splice isoforms for TOP2B Gene


neXtProt entry for TOP2B Gene

Selected DME Specific Peptides for TOP2B Gene


Post-translational modifications for TOP2B Gene

  • Ubiquitination at Lys144, Lys212, Lys254, Lys342, Lys407, Lys412, Lys541, Lys550, Lys605, Lys635, Lys643, Lys712, Lys744, and Lys1008
  • Modification sites at PhosphoSitePlus

Other Protein References for TOP2B Gene

Domains & Families for TOP2B Gene

Gene Families for TOP2B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TOP2B Gene

  • ATP-binding region, ATPase-like
  • CCAAT-binding transcription factor subunit A signature
  • Topoisomerase II signature
  • DNA gyrase/topoisomerase IV, subunit A
  • DNA topoisomerase, type IIA, subunit B, conserved region

Suggested Antigen Peptide Sequences for TOP2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50986, highly similar to DNA topoisomerase 2-beta (EC (B4DLV2_HUMAN)
  • DNA topoisomerase 2 (E9PCY5_HUMAN)
  • Topoisomerase IIb (Q6LBI8_HUMAN)
  • Topoisomerase II beta (Q6LC06_HUMAN)
  • DNA topoisomerase 2 (Q71UH4_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the type II topoisomerase family.
  • Belongs to the type II topoisomerase family.
genes like me logo Genes that share domains with TOP2B: view

Function for TOP2B Gene

Molecular function for TOP2B Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP-dependent breakage, passage and rejoining of double-stranded DNA.; EC=; Evidence={ECO:0000255|PROSITE-ProRule:PRU00995, ECO:0000269|PubMed:10684600};.
GENATLAS Biochemistry:
DNA topoisomerase II beta (180kDa),ubiquitous,ATPase component of the topoisomerase II,involved in the breakage and rejoining of double strand of DNA,relaxing both positively and negatively supercoiled DNA,target of several drugs,widely used in the treatment of human cancers

Enzyme Numbers (IUBMB) for TOP2B Gene

Phenotypes From GWAS Catalog for TOP2B Gene

Gene Ontology (GO) - Molecular Function for TOP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 9049244
GO:0003916 DNA topoisomerase activity IEA --
GO:0003918 DNA topoisomerase type II (ATP-hydrolyzing) activity IEA,IDA 10684600
genes like me logo Genes that share ontologies with TOP2B: view
genes like me logo Genes that share phenotypes with TOP2B: view

Animal Models for TOP2B Gene

MGI Knock Outs for TOP2B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP2B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TOP2B Gene

Localization for TOP2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOP2B Gene

Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOP2B gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TOP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 colocalizes_with heterochromatin IDA 9049244
GO:0005634 nucleus IEA,IDA 9049244
GO:0005654 nucleoplasm TAS --
GO:0005730 NOT nucleolus IDA 9049244
GO:0005829 cytosol IDA 9049244
genes like me logo Genes that share ontologies with TOP2B: view

Pathways & Interactions for TOP2B Gene

genes like me logo Genes that share pathways with TOP2B: view

Pathways by source for TOP2B Gene

1 KEGG pathway for TOP2B Gene
3 GeneGo (Thomson Reuters) pathways for TOP2B Gene
  • Cell cycle Transition and termination of DNA replication
  • Cell cycle_Chromosome condensation in prometaphase
  • Proteolysis Putative SUMO-1 pathway

SIGNOR curated interactions for TOP2B Gene


Gene Ontology (GO) - Biological Process for TOP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA 21873635
GO:0000819 sister chromatid segregation IBA 21873635
GO:0001764 neuron migration IEA --
GO:0006259 DNA metabolic process IEA --
GO:0006265 DNA topological change IEA,IDA 10684600
genes like me logo Genes that share ontologies with TOP2B: view

Drugs & Compounds for TOP2B Gene

(45) Drugs for TOP2B Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Daunorubicin Approved Pharma Target, inhibitor DNA topoisomerase II inhibitor 399
Etoposide Approved Pharma Target, inhibitor Topo II inhibitor, Topoisomerase 2 Inhibitors 1532
Dexrazoxane Approved, Withdrawn Pharma Target 55
Amsacrine Approved, Investigational Pharma Topoisomerase 2 inhibitor 9
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2106

(5) Additional Compounds for TOP2B Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dexrazoxane hydrochloride
Doxorubicin hydrochloride
Mitoxantrone dihydrochloride

(4) Tocris Compounds for TOP2B Gene

Compound Action Cas Number
Dexrazoxane hydrochloride Topoisomerase II inhibitor 1263283-43-7
Doxorubicin hydrochloride Antitumor antibiotic agent. Inhibits DNA topoisomerase II 25316-40-9
Ellipticine Antitumor and intercalating agent; inhibits DNA topoisomerase II 519-23-3
Mitoxantrone dihydrochloride Topoisomerase II inhibitor; immunosuppressive and antineoplastic agent 70476-82-3

(28) ApexBio Compounds for TOP2B Gene

Compound Action Cas Number
(S)-10-Hydroxycamptothecin 19685-09-7
Amonafide DNA intercalator,Topo II inhibitor 69408-81-7
Amrubicin Topoisomerase II inhibitor, anthracycline agent 110267-81-7
Amsacrine Topoisomerase 2 inhibitor 51264-14-3
Amsacrine hydrochloride Topoisomerase 2 inhibitor 54301-15-4
Beta-Lapachone DNA topoisomerase I inhibitor,selective 4707-32-8
Camptothecin Topoisomerase I inhibitor,prototypic 7689-03-4
Ciprofloxacin 85721-33-1
Daunorubicin DNA topoisomerase II inhibitor 20830-81-3
Dexrazoxane HCl (ICRF-187, ADR-529) Topoisomerase II inhibitor,intracellular ion chelator,cardioprotective agent 149003-01-0
Doxorubicin Topo II inhibitor,immunosuppresive antineoplastic antibiotic 23214-92-8
Doxorubicin (Adriamycin) HCl Antitumour antibiotic,inhibits TOPO II. 25316-40-9
Ellipticine DNA topoisomerase II inhibitor 519-23-3
Epirubicin HCl Antibiotic antitumor agent 56390-09-1
Etoposide Topo II inhibitor 33419-42-0
Flumequine 42835-25-6
Gatifloxacin Fluoroquinolone antibiotic,inhibits bacterial TOPO II 112811-59-3
Idarubicin HCl Anthracycline and daunorubicin analog,topoisomerase inhibitor 57852-57-0
Irinotecan Topoisomerase I inhibitor 97682-44-5
Mitoxantrone HCl Topoisomerase II inhibitor, anti-neoplastic drug 70476-82-3
Moxifloxacin HCl Fluoroquinolone antibiotic 186826-86-8
Novobiocin Sodium 1476-53-5
Ofloxacin Fluoroquinolones,antibiotics 82419-36-1
Pirarubicin Topo II inhibitor;antineoplastic;analogue of doxorubicin 72496-41-4
Teniposide 29767-20-2
Topotecan HCl Topoisomerase 1 inhibitor 119413-54-6
Voreloxin Topo II inhibitor 175414-77-4
Voreloxin Hydrochloride Antineoplastic naphthyridine analogue 175519-16-1
genes like me logo Genes that share compounds with TOP2B: view

Drug products for research

Transcripts for TOP2B Gene

mRNA/cDNA for TOP2B Gene

15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOP2B

Alternative Splicing Database (ASD) splice patterns (SP) for TOP2B Gene

No ASD Table

Relevant External Links for TOP2B Gene

GeneLoc Exon Structure for

Expression for TOP2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOP2B Gene

Protein differential expression in normal tissues from HIPED for TOP2B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.1), Fetal Brain (11.5), and Retina (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOP2B Gene

Protein tissue co-expression partners for TOP2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOP2B

SOURCE GeneReport for Unigene cluster for TOP2B Gene:


mRNA Expression by UniProt/SwissProt for TOP2B Gene:

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).

Evidence on tissue expression from TISSUES for TOP2B Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Intestine(3.5)
  • Heart(3.4)
  • Lung(3.1)
  • Muscle(2.9)
  • Skin(2.6)
  • Kidney(2.5)
  • Spleen(2.5)
  • Eye(2.5)
  • Bone marrow(2.3)
  • Lymph node(2.2)
  • Stomach(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with TOP2B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOP2B Gene

Orthologs for TOP2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TOP2B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TOP2B 29 30
  • 99.77 (n)
(Canis familiaris)
Mammalia TOP2B 29 30
  • 95.28 (n)
(Ornithorhynchus anatinus)
Mammalia TOP2B 30
  • 94 (a)
(Bos Taurus)
Mammalia TOP2B 29 30
  • 92.53 (n)
(Mus musculus)
Mammalia Top2b 29 16 30
  • 92.02 (n)
(Monodelphis domestica)
Mammalia TOP2B 30
  • 92 (a)
(Rattus norvegicus)
Mammalia Top2b 29
  • 91.1 (n)
(Gallus gallus)
Aves TOP2B 29 30
  • 83.44 (n)
(Anolis carolinensis)
Reptilia TOP2B 30
  • 87 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia top2b 29
  • 76.99 (n)
Str.19992 29
(Danio rerio)
Actinopterygii top2b 29 30
  • 70.3 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Top2 30 31
  • 55 (a)
(Caenorhabditis elegans)
Secernentea F32A11.4 31
  • 59 (a)
ZK1127.7 31
  • 54 (a)
cin-4 30
  • 51 (a)
F32A11.5 31
  • 51 (a)
top-2 30
  • 50 (a)
Y46H3C.4 30 31
  • 43 (a)
R05D3.12 30
  • 41 (a)
R05D3.1 31
  • 40 (a)
F31E8.6 31
  • 38 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13838g 29
  • 56.47 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOP2 29 30 32
  • 55.85 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER410W 29
  • 55.05 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TOPII 29
  • 58.07 (n)
(Oryza sativa)
Liliopsida Os02g0699700 29
  • 59.8 (n)
Os.34202 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 63 (a)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes top2 29
  • 56.15 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06338 29
  • 51.88 (n)
Species where no ortholog for TOP2B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TOP2B Gene

Gene Tree for TOP2B (if available)
Gene Tree for TOP2B (if available)
Evolutionary constrained regions (ECRs) for TOP2B: view image
Alliance of Genome Resources:
Additional Orthologs for TOP2B

Paralogs for TOP2B Gene

Paralogs for TOP2B Gene

(2) SIMAP similar genes for TOP2B Gene using alignment to 6 proteins:

  • H7BZ82_HUMAN
  • L8E8K5_HUMAN
  • Q71UH4_HUMAN
genes like me logo Genes that share paralogs with TOP2B: view

Variants for TOP2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOP2B Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1004377 Uncertain Significance: not provided 25,615,207(-) C/G
NM_001330700.2(TOP2B):c.3589G>C (p.Asp1197His)
1007632 Uncertain Significance: not provided 25,604,762(-) T/G
NM_001330700.2(TOP2B):c.4487A>C (p.Lys1496Thr)
1009078 Uncertain Significance: not provided 25,607,335(-) CTCT/C
NM_001330700.2(TOP2B):c.4125AGA[2] (p.Glu1378del)
1012492 Uncertain Significance: not provided 25,607,329(-) A/T
NM_001330700.2(TOP2B):c.4140T>A (p.Asp1380Glu)
1015951 Uncertain Significance: not provided 25,630,077(-) T/A
NM_001330700.2(TOP2B):c.1641A>T (p.Glu547Asp)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TOP2B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TOP2B Gene

Variant ID Type Subtype PubMed ID
dgv4707n100 CNV loss 25217958
esv2725054 CNV deletion 23290073
esv3307199 CNV mobile element insertion 20981092
esv3402240 CNV insertion 20981092
esv3561627 CNV deletion 23714750
esv3893676 CNV loss 25118596
nsv1073212 CNV deletion 25765185
nsv1141805 CNV insertion 24896259
nsv507089 OTHER sequence alteration 20534489
nsv955576 CNV deletion 24416366

Variation tolerance for TOP2B Gene

Residual Variation Intolerance Score: 7.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOP2B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOP2B Gene

Disorders for TOP2B Gene

MalaCards: The human disease database

(3) MalaCards diseases for TOP2B Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TOP2B in MalaCards View complete list of genes associated with diseases


  • Note=A defect in TOP2B is associated with autism spectrum disorder (ASD). {ECO:0000269 PubMed:28343847}.

Additional Disease Information for TOP2B

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TOP2B: view

No data available for Genatlas for TOP2B Gene

Publications for TOP2B Gene

  1. Isolation of cDNA clones encoding the beta isozyme of human DNA topoisomerase II and localisation of the gene to chromosome 3p24. (PMID: 1333583) Jenkins JR … Hickson ID (Nucleic acids research 1992) 2 3 4 22
  2. Mutagenesis of E477 or K505 in the B' domain of human topoisomerase II beta increases the requirement for magnesium ions during strand passage. (PMID: 10684600) West KL … Austin CA (Biochemistry 2000) 3 4 22
  3. Molecular cloning and characterization of the human topoisomerase IIalpha and IIbeta genes: evidence for isoform evolution through gene duplication. (PMID: 10095062) Sng JH … Fisher LM (Biochimica et biophysica acta 1999) 3 4 22
  4. Discrete localization of different DNA topoisomerases in HeLa and K562 cell nuclei and subnuclear fractions. (PMID: 8299728) Zini N … Maraldi NM (Experimental cell research 1994) 3 4 22
  5. Mutations in topoisomerase IIβ result in a B cell immunodeficiency. (PMID: 31409799) Broderick L … Hoffman HM (Nature communications 2019) 3 72

Products for TOP2B Gene

Sources for TOP2B Gene