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

TOP2B Protein Structure

HATPase_c

DNA_gyraseB

Toprim

DNA_topoisoIV

DTHCT

0
300
600
900
1200
1500
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14897	TOP2B Human Pre-designed siRNA Set A		/	Unkown

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

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