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  2. TOP2B - DNA topoisomerase II beta Gene

TOP2B - DNA topoisomerase II beta Gene

Homo sapiens

Also known as BILU; TOPIIB; top2beta

Gene ID: 7155 | Gene type: protein coding

About TOP2B

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:25,597,905-25,664,907 (from NCBI)

This gene has 26 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in urinary bladder (RPKM 32.3), brain (RPKM 31.7) and 25 other tissues.

Summary

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]

TOP2B Products(2)

mRNA Protein Name
NM_001068.3 NP_001059.2 DNA topoisomerase 2-beta isoform 2
NM_001330700.2 NP_001317629.1 DNA topoisomerase 2-beta isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity IDA
IDA: Inferred from direct assay
10684600 GOA
enables DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity IMP
IMP: Inferred from mutant phenotype
31409799 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
9049244 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10473615 GOA
Biological Process GO Annotation Evidence Reference Source
involved in B cell differentiation IMP
IMP: Inferred from mutant phenotype
31409799 GOA
involved in DNA topological change IDA
IDA: Inferred from direct assay
10684600 GOA
involved in positive regulation of single stranded viral RNA replication via double stranded DNA intermediate IMP
IMP: Inferred from mutant phenotype
16712776 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
9049244 GOA
colocalizes with heterochromatin IDA
IDA: Inferred from direct assay
9049244 GOA
NOT located in nucleolus IDA
IDA: Inferred from direct assay
9049244 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
8299728 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
9049244 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9049244 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOP2B Protein Structure

HATPase_c

HATPase_c: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (100 - 242)

DNA_gyraseB

DNA_gyraseB: DNA gyrase B (287 - 447)

Toprim

Toprim: Toprim domain (477 - 588)

DNA_topoisoIV

DNA_topoisoIV: DNA gyrase/topoisomerase IV, subunit A (734 - 1189)

DTHCT

DTHCT: DTHCT (NUC029) region (1508 - 1611)

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  • 1626 a.a.
Protein Preferred Names Protein Names

DNA topoisomerase 2-beta

DNA topoisomerase II, 180 kD

Related Diseases

Diseases Alias
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations

BILU

Bilu Syndrome

Hoffman Syndrome

B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome

Bilu Syndrome

Hoffman Syndrome

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Spinocerebellar Ataxia, Autosomal Recessive 23

SCAR23

Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TOP2B MGD MGI:98791
Felis catus TOP2B VGNC VGNC:66449
Bos taurus TOP2B VGNC VGNC:49158
Macaca mulatta TOP2B VGNC VGNC:78621
Rattus norvegicus TOP2B RGD RGD:1586156
Canis familiaris TOP2B VGNC VGNC:49632