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  2. TOP2B - DNA topoisomerase II beta Gene

TOP2B - DNA topoisomerase II beta Gene

中文名称:DNA 拓扑异构酶 II β

种属: Homo sapiens

同用名: BILU; TOPIIB; top2beta

基因 ID: 7155 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种 DNA 拓扑异构酶,一种在转录过程中控制和改变 DNA 拓扑状态的酶。这种核酶参与染色体浓缩、染色单体分离以及 DNA 转录和复制过程中发生的扭转应力的缓解等过程。它催化双链 DNA 的两条链的瞬时断裂和重新连接,使链彼此穿过,从而改变 DNA 的拓扑结构。这种酶的两种形式可能是基因复制事件的产物。编码这种形式的基因,β,位于 3 号染色体,而 alpha 形式位于 17 号染色体。编码这种酶的基因作为几种抗癌剂的靶标,并且该基因的各种突变与发展有关的耐药性。这种酶的活性降低也可能在共济失调-毛细血管扩张中起作用。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity IDA
IDA: 通过直接分析推断
10684600 GOA
enables DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity IMP
IMP: 通过突变表型推断
31409799 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
9049244 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10473615 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell differentiation IMP
IMP: 通过突变表型推断
31409799 GOA
involved in DNA topological change IDA
IDA: 通过直接分析推断
10684600 GOA
involved in positive regulation of single stranded viral RNA replication via double stranded DNA intermediate IMP
IMP: 通过突变表型推断
16712776 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
9049244 GOA
colocalizes with heterochromatin IDA
IDA: 通过直接分析推断
9049244 GOA
NOT located in nucleolus IDA
IDA: 通过直接分析推断
9049244 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
8299728 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
9049244 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9049244 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TOP2B 蛋白结构

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.
蛋白主名 其他名称

DNA topoisomerase 2-beta

DNA topoisomerase II, 180 kD

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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