Details for: TOP2B

Gene ID: 7155

Symbol: TOP2B

Ensembl ID: ENSG00000077097

Description: DNA topoisomerase II beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 397.6335
    Cell Significance Index: -61.8500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 220.0728
    Cell Significance Index: -55.8200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 137.1677
    Cell Significance Index: -64.7600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 127.1855
    Cell Significance Index: -51.6700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 118.0827
    Cell Significance Index: -60.7400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 96.7032
    Cell Significance Index: -64.8900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 54.8315
    Cell Significance Index: -52.3500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 51.3684
    Cell Significance Index: -63.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 22.3677
    Cell Significance Index: -59.9200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.2980
    Cell Significance Index: -53.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.3252
    Cell Significance Index: -64.4200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.6742
    Cell Significance Index: -25.5500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.0183
    Cell Significance Index: 169.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.4320
    Cell Significance Index: 156.9000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 2.1292
    Cell Significance Index: 231.5900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.0880
    Cell Significance Index: 24.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8914
    Cell Significance Index: 379.4100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.8354
    Cell Significance Index: 112.8100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.6996
    Cell Significance Index: 88.5300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.4492
    Cell Significance Index: 13.3500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.3753
    Cell Significance Index: 32.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3723
    Cell Significance Index: 492.2300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.3299
    Cell Significance Index: 83.8200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.3165
    Cell Significance Index: 237.3300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2699
    Cell Significance Index: 252.0200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0671
    Cell Significance Index: 131.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0102
    Cell Significance Index: 77.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9414
    Cell Significance Index: 48.9100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8113
    Cell Significance Index: 561.1500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8015
    Cell Significance Index: 22.4000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7119
    Cell Significance Index: 8.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6595
    Cell Significance Index: 90.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6554
    Cell Significance Index: 357.9200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6457
    Cell Significance Index: 43.4200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5926
    Cell Significance Index: 535.0900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5435
    Cell Significance Index: 15.6600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4857
    Cell Significance Index: 214.7500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2883
    Cell Significance Index: 4.9400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2840
    Cell Significance Index: 33.4900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2774
    Cell Significance Index: 7.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2666
    Cell Significance Index: 12.4300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2308
    Cell Significance Index: 4.5100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2286
    Cell Significance Index: 10.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2205
    Cell Significance Index: 415.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1872
    Cell Significance Index: 8.2800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1696
    Cell Significance Index: 107.7000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1244
    Cell Significance Index: 4.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1196
    Cell Significance Index: 184.1800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1093
    Cell Significance Index: 14.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1018
    Cell Significance Index: 187.7400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0959
    Cell Significance Index: 9.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0923
    Cell Significance Index: 15.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0915
    Cell Significance Index: 3.4700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0894
    Cell Significance Index: 40.5800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0668
    Cell Significance Index: 90.8000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0642
    Cell Significance Index: 12.2200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0056
    Cell Significance Index: 0.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0065
    Cell Significance Index: -4.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0197
    Cell Significance Index: -3.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0205
    Cell Significance Index: -12.7800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0232
    Cell Significance Index: -17.2100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0587
    Cell Significance Index: -44.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0660
    Cell Significance Index: -3.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0870
    Cell Significance Index: -49.0500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0965
    Cell Significance Index: -2.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1295
    Cell Significance Index: -9.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1653
    Cell Significance Index: -34.8200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1888
    Cell Significance Index: -54.3200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2001
    Cell Significance Index: -29.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2338
    Cell Significance Index: -23.8900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2349
    Cell Significance Index: -30.3500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2880
    Cell Significance Index: -32.8700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3027
    Cell Significance Index: -10.5200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3065
    Cell Significance Index: -5.1300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3110
    Cell Significance Index: -23.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3244
    Cell Significance Index: -37.8000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3520
    Cell Significance Index: -18.4800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3758
    Cell Significance Index: -43.0500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3929
    Cell Significance Index: -8.1500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4213
    Cell Significance Index: -6.2200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4250
    Cell Significance Index: -9.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4477
    Cell Significance Index: -46.6200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5269
    Cell Significance Index: -13.8600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5321
    Cell Significance Index: -11.6500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.5550
    Cell Significance Index: -33.3200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5841
    Cell Significance Index: -12.4900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6039
    Cell Significance Index: -12.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6116
    Cell Significance Index: -48.4400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6616
    Cell Significance Index: -21.1900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6941
    Cell Significance Index: -17.3500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.7003
    Cell Significance Index: -19.9900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.7703
    Cell Significance Index: -10.5100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.7851
    Cell Significance Index: -13.2300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.7919
    Cell Significance Index: -22.7000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.8772
    Cell Significance Index: -22.4100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8816
    Cell Significance Index: -19.1000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -1.0145
    Cell Significance Index: -7.8200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.0427
    Cell Significance Index: -22.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0437
    Cell Significance Index: -63.9900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.0959
    Cell Significance Index: -35.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Topoisomerase II beta:** TOP2B is a beta isoform of the topoisomerase II enzyme, which is a type II DNA topoisomerase. This enzyme has the ability to cut both strands of the double helix, creating a temporary single-strand break. 2. **DNA binding:** TOP2B binds to DNA, specifically to the major and minor grooves of the double helix, allowing it to regulate the topological state of the DNA. 3. **Isoform specificity:** TOP2B has been shown to be specific to certain cellular contexts, such as the late pro-B cell and vip GABAergic cortical interneuron, suggesting that it may play a unique role in these cell types. 4. **Regulation of gene expression:** TOP2B has been implicated in the regulation of gene expression, particularly in the context of DNA repair and transcription. **Pathways and Functions:** 1. **DNA replication and repair:** TOP2B plays a crucial role in DNA replication and repair by regulating the topological state of the DNA. It is involved in the resolution of meiotic recombination intermediates and the positive regulation of single-stranded viral RNA replication via a double-stranded DNA intermediate. 2. **Chromatin remodeling:** TOP2B has been shown to interact with chromatin remodeling complexes, suggesting that it may play a role in the regulation of chromatin structure and function. 3. **Transcriptional regulation:** TOP2B has been implicated in the regulation of transcription, particularly in the context of DNA repair and transcriptional regulation. 4. **Cell cycle regulation:** TOP2B is involved in the regulation of the cell cycle, particularly in the context of DNA replication and repair. **Clinical Significance:** 1. **Cancer:** TOP2B has been implicated in various types of cancer, including breast cancer, where it is overexpressed and associated with poor prognosis. 2. **Neurological disorders:** TOP2B has been linked to neurological disorders, such as Alzheimer's disease and Parkinson's disease, where it is thought to play a role in the regulation of gene expression and DNA repair. 3. **Immunological disorders:** TOP2B has been implicated in immunological disorders, such as autoimmune diseases, where it is thought to play a role in the regulation of gene expression and DNA repair. 4. **Gene therapy:** TOP2B has been identified as a potential target for gene therapy, particularly in the context of cancer and neurological disorders. In conclusion, the TOP2B gene is a complex and multifunctional gene that plays a critical role in various cellular processes, including DNA replication, repair, and transcription. Further research is needed to fully understand the mechanisms by which TOP2B regulates gene expression and DNA repair, and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 571724218

Symbol: TOP2B_HUMAN

Name: DNA topoisomerase 2-beta

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1333583

Title: Isolation of cDNA clones encoding the beta isozyme of human DNA topoisomerase II and localisation of the gene to chromosome 3p24.

PubMed ID: 1333583

DOI: 10.1093/nar/20.21.5587

PubMed ID: 8383537

Title: Novel HeLa topoisomerase II is the II beta isoform: complete coding sequence and homology with other type II topoisomerases.

PubMed ID: 8383537

DOI: 10.1016/0167-4781(93)90215-y

PubMed ID: 2556712

Title: Characterization and immunological identification of cDNA clones encoding two human DNA topoisomerase II isozymes.

PubMed ID: 2556712

DOI: 10.1073/pnas.86.23.9431

PubMed ID: 10095062

Title: Molecular cloning and characterization of the human topoisomerase IIalpha and IIbeta genes: evidence for isoform evolution through gene duplication.

PubMed ID: 10095062

DOI: 10.1016/s0167-4781(99)00020-2

PubMed ID: 2163884

Title: Isolation and characterization of a human cDNA clone encoding a novel DNA topoisomerase II homologue from HeLa cells.

PubMed ID: 2163884

DOI: 10.1016/0014-5793(90)81520-x

PubMed ID: 9168988

Title: Binding of wild-type p53 by topoisomerase II and overexpression of topoisomerase II in human hepatocellular carcinoma.

PubMed ID: 9168988

DOI: 10.1006/bbrc.1997.6539

PubMed ID: 8396237

Title: Human cells express two differentially spliced forms of topoisomerase II beta mRNA.

PubMed ID: 8396237

DOI: 10.1093/nar/21.16.3719

PubMed ID: 8299728

Title: Discrete localization of different DNA topoisomerases in HeLa and K562 cell nuclei and subnuclear fractions.

PubMed ID: 8299728

DOI: 10.1006/excr.1994.1046

PubMed ID: 9155056

Title: The distribution and expression of the two isoforms of DNA topoisomerase II in normal and neoplastic human tissues.

PubMed ID: 9155056

DOI: 10.1038/bjc.1997.227

PubMed ID: 10684600

Title: Mutagenesis of E477 or K505 in the B' domain of human topoisomerase II beta increases the requirement for magnesium ions during strand passage.

PubMed ID: 10684600

DOI: 10.1021/bi991328b

PubMed ID: 12821127

Title: Identification of functional nuclear export sequences in human topoisomerase IIalpha and beta.

PubMed ID: 12821127

DOI: 10.1016/s0006-291x(03)01077-5

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17487921

Title: Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.

PubMed ID: 17487921

DOI: 10.1002/elps.200600782

PubMed ID: 17567603

Title: Nuclear interactions of topoisomerase II alpha and beta with phospholipid scramblase 1.

PubMed ID: 17567603

DOI: 10.1093/nar/gkm434

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 19367720

Title: Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.

PubMed ID: 19367720

DOI: 10.1021/pr800500r

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 31409799

Title: Mutations in topoisomerase IIbeta result in a B cell immunodeficiency.

PubMed ID: 31409799

DOI: 10.1038/s41467-019-11570-6

PubMed ID: 34543352

Title: The Epstein-Barr virus deubiquitinating enzyme BPLF1 regulates the activity of topoisomerase II during productive infection.

PubMed ID: 34543352

DOI: 10.1371/journal.ppat.1009954

PubMed ID: 21778401

Title: Structural basis of type II topoisomerase inhibition by the anticancer drug etoposide.

PubMed ID: 21778401

DOI: 10.1126/science.1204117

PubMed ID: 28343847

Title: Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

PubMed ID: 28343847

DOI: 10.1016/j.cca.2017.03.022

PubMed ID: 32128574

Title: Topoisomerase 2beta mutation impairs early B-cell development.

PubMed ID: 32128574

DOI: 10.1182/blood.2019003299

PubMed ID: 31953910

Title: A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

PubMed ID: 31953910

DOI: 10.1002/mgg3.1145

PubMed ID: 33459963

Title: Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain.

PubMed ID: 33459963

DOI: 10.1007/s10875-020-00963-8

Sequence Information:

  • Length: 1626
  • Mass: 183267
  • Checksum: E60E9262CC68B05D
  • Sequence:
  • MAKSGGCGAG AGVGGGNGAL TWVTLFDQNN AAKKEESETA NKNDSSKKLS VERVYQKKTQ 
    LEHILLRPDT YIGSVEPLTQ FMWVYDEDVG MNCREVTFVP GLYKIFDEIL VNAADNKQRD 
    KNMTCIKVSI DPESNIISIW NNGKGIPVVE HKVEKVYVPA LIFGQLLTSS NYDDDEKKVT 
    GGRNGYGAKL CNIFSTKFTV ETACKEYKHS FKQTWMNNMM KTSEAKIKHF DGEDYTCITF 
    QPDLSKFKME KLDKDIVALM TRRAYDLAGS CRGVKVMFNG KKLPVNGFRS YVDLYVKDKL 
    DETGVALKVI HELANERWDV CLTLSEKGFQ QISFVNSIAT TKGGRHVDYV VDQVVGKLIE 
    VVKKKNKAGV SVKPFQVKNH IWVFINCLIE NPTFDSQTKE NMTLQPKSFG SKCQLSEKFF 
    KAASNCGIVE SILNWVKFKA QTQLNKKCSS VKYSKIKGIP KLDDANDAGG KHSLECTLIL 
    TEGDSAKSLA VSGLGVIGRD RYGVFPLRGK ILNVREASHK QIMENAEINN IIKIVGLQYK 
    KSYDDAESLK TLRYGKIMIM TDQDQDGSHI KGLLINFIHH NWPSLLKHGF LEEFITPIVK 
    ASKNKQELSF YSIPEFDEWK KHIENQKAWK IKYYKGLGTS TAKEAKEYFA DMERHRILFR 
    YAGPEDDAAI TLAFSKKKID DRKEWLTNFM EDRRQRRLHG LPEQFLYGTA TKHLTYNDFI 
    NKELILFSNS DNERSIPSLV DGFKPGQRKV LFTCFKRNDK REVKVAQLAG SVAEMSAYHH 
    GEQALMMTIV NLAQNFVGSN NINLLQPIGQ FGTRLHGGKD AASPRYIFTM LSTLARLLFP 
    AVDDNLLKFL YDDNQRVEPE WYIPIIPMVL INGAEGIGTG WACKLPNYDA REIVNNVRRM 
    LDGLDPHPML PNYKNFKGTI QELGQNQYAV SGEIFVVDRN TVEITELPVR TWTQVYKEQV 
    LEPMLNGTDK TPALISDYKE YHTDTTVKFV VKMTEEKLAQ AEAAGLHKVF KLQTTLTCNS 
    MVLFDHMGCL KKYETVQDIL KEFFDLRLSY YGLRKEWLVG MLGAESTKLN NQARFILEKI 
    QGKITIENRS KKDLIQMLVQ RGYESDPVKA WKEAQEKAAE EDETQNQHDD SSSDSGTPSG 
    PDFNYILNMS LWSLTKEKVE ELIKQRDAKG REVNDLKRKS PSDLWKEDLA AFVEELDKVE 
    SQEREDVLAG MSGKAIKGKV GKPKVKKLQL EETMPSPYGR RIIPEITAMK ADASKKLLKK 
    KKGDLDTAAV KVEFDEEFSG APVEGAGEEA LTPSVPINKG PKPKREKKEP GTRVRKTPTS 
    SGKPSAKKVK KRNPWSDDES KSESDLEETE PVVIPRDSLL RRAAAERPKY TFDFSEEEDD 
    DADDDDDDNN DLEELKVKAS PITNDGEDEF VPSDGLDKDE YTFSPGKSKA TPEKSLHDKK 
    SQDFGNLFSF PSYSQKSEDD SAKFDSNEED SASVFSPSFG LKQTDKVPSK TVAAKKGKPS 
    SDTVPKPKRA PKQKKVVEAV NSDSDSEFGI PKKTTTPKGK GRGAKKRKAS GSENEGDYNP 
    GRKTSKTTSK KPKKTSFDQD SDVDIFPSDF PTEPPSLPRT GRARKEVKYF AESDEEEDDV 
    DFAMFN

Genular Protein ID: 3157487992

Symbol: Q59H80_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 1009
  • Mass: 114006
  • Checksum: 6E69FB71236E0D4D
  • Sequence:
  • RMEKHIENQK AWKIKYYKGL GTSTAKEAKE YFADMERHRI LFRYAGPEDD AAITLAFSKK 
    KIDDRKEWLT NFMEDRRQRR LHGLPEQFLY GTATKHLTYN DFINKELILF SNSDNERSIP 
    SLVDGFKPGQ RKVLFTCFKR NDKREVKVAQ LAGSVAEMSA YHHGEQALMM TIVNLAQNFV 
    GSNNINLLQP IGQFGTRLHG GKDAASPRYI FTMLSTLARL LFPAVDDNLL KFLYDDNQRV 
    EPEWYIPIIP MVLINGAEGI GTGWACKLPN YDAREIVNNV RRMLDGLDPH PMLPNYKNFK 
    GTIQELGQNQ YAVSGEIFVV DRNTVEITEL PVRTWTQVYK EQVLEPMLNG TDKTPALISD 
    YKEYHTDTTV KFVVKMTEEK LAQAEAAGLH KVFKLQTTLT CNSMVLFDHM GCLKKYETVQ 
    DILKEFFDLR LSYYGLRKEW LVGMLGAEST KLNNQARFIL EKIQGKITIE NRSKKDLIQM 
    LVQRGYESDP VKAWKEAQEK AAEEDETQNQ HDDSSSDSGT PSGPDFNYIL NMSLWSLTKE 
    KVEELIKQRD AKGREVNDLK RKSPSDLWKE DLAAFVEELD KVESQEREDV LAGMSGKAIK 
    GKVGKPKVKK LQLEETMPSP YGRRIIPEIT AMKADASKKL LKKKKGDLDT AAVKVEFDEE 
    FSGAPVEGAG EEALTPSVPI NKGPKPKREK KEPGTRVRKT PTSSGKPSAK KVKKRNPWSD 
    DESKSESDLE ETEPVVIPRD SLLRRAAAER PKYTFDFSEE EDDDADDDDD DNNDLEELKV 
    KASPITNDGE DEFVPSDGLD KDEYTFSPGK SKATPEKSLH DKKSQDFGNL FSFPSYSQKS 
    EDDSAKFDSN EEDSASVFSP SFGLKQTDKV PSKTVAAKKG KPSSDTVPKP KRAPKQKKVV 
    EAVNSDSDSE FGIPKKTTTP KGKGRGAKKR KASGSENEGD YNPGRKTSKT TSKKPKKTSF 
    DQDSDVDIFP SDFPTEPPSL PRTGRARKEV KYFAESDEEE DDVDFAMFN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.