1. Gene
  2. TOP3B - DNA topoisomerase III beta Gene

TOP3B - DNA topoisomerase III beta Gene

Homo sapiens

Also known as TOP3B1

Gene ID: 8940 | Gene type: protein coding

About TOP3B

Cytogenetic location: 22q11.22 Genomic coordinates (GRCh38): 22:21,957,025-21,982,787 (from NCBI)

This gene has 17 transcripts (splice variants), 205 orthologues and 1 paralogue. Ubiquitous expression in spleen (RPKM 4.6), lymph node (RPKM 3.7) 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 Enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The Enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast Cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

TOP3B Products(9)

mRNA Protein Name
NM_001282112.2 NP_001269041.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001282113.2 NP_001269042.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001349845.2 NP_001336774.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001349847.2 NP_001336776.1 DNA topoisomerase 3-beta-1 isoform 1
NM_001349848.2 NP_001336777.1 DNA topoisomerase 3-beta-1 isoform 2
NM_001349850.2 NP_001336779.1 DNA topoisomerase 3-beta-1 isoform 2
NM_001349851.2 NP_001336780.1 DNA topoisomerase 3-beta-1 isoform 3
NM_001349852.2 NP_001336781.1 DNA topoisomerase 3-beta-1 isoform 3
NM_003935.5 NP_003926.1 DNA topoisomerase 3-beta-1 isoform 1

TOP3B Protein Structure

Toprim

Toprim: Toprim domain (4 - 155)

Topoisom_bac

Topoisom_bac: DNA topoisomerase (170 - 582)

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  • 862 a.a.
Protein Preferred Names Protein Names

DNA topoisomerase 3-beta-1

DNA topoisomerase III beta-1

Related Diseases

Diseases Alias
Li-Fraumeni Syndrome 2

LFS2

Li-Fraumeni Syndrome, Type 2

Li-Fraumeni Syndrome

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)

Kidney Rhabdoid Cancer

Rhabdoid Tumor Of The Kidney

Kidney Rhabdoid Tumor

Renal Rhabdoid Tumor

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Felis catus TOP3B VGNC VGNC:66451
Canis familiaris TOP3B VGNC VGNC:49634
Rattus norvegicus TOP3B RGD RGD:1309468
Macaca mulatta TOP3B VGNC VGNC:78623
Mus musculus TOP3B MGD MGI:1333803
Bos taurus TOP3B VGNC VGNC:106991