Details for: EZH2

Gene ID: 2146

Symbol: EZH2

Ensembl ID: ENSG00000106462

Description: enhancer of zeste 2 polycomb repressive complex 2 subunit

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 2.04
    Marker Score: 7890
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.94
    Marker Score: 1088
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.69
    Marker Score: 2042
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.58
    Marker Score: 1482
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.56
    Marker Score: 4233
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168199
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.37
    Marker Score: 1972
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.34
    Marker Score: 3974
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.32
    Marker Score: 1415
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.29
    Marker Score: 1294
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.27
    Marker Score: 1399
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.23
    Marker Score: 593
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.13
    Marker Score: 3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.11
    Marker Score: 1260
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.1
    Marker Score: 748
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.07
    Marker Score: 4449
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251711
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.03
    Marker Score: 775
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.03
    Marker Score: 777
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.01
    Marker Score: 589
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.01
    Marker Score: 633
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71732
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47956
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.98
    Marker Score: 1670
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30396
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.97
    Marker Score: 827
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.97
    Marker Score: 3967
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 15094
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2401
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.94
    Marker Score: 687
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.94
    Marker Score: 639
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.94
    Marker Score: 1958
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.92
    Marker Score: 555
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5211
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2707
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.9
    Marker Score: 440
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.89
    Marker Score: 1445
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.88
    Marker Score: 4617
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.87
    Marker Score: 335
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.85
    Marker Score: 8655
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.85
    Marker Score: 735
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.85
    Marker Score: 888
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.85
    Marker Score: 1063
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.84
    Marker Score: 872
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.83
    Marker Score: 1178
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.82
    Marker Score: 474
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.82
    Marker Score: 1085
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.8
    Marker Score: 589.5
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8
    Marker Score: 844
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.79
    Marker Score: 2933
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.77
    Marker Score: 2102
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.76
    Marker Score: 377
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.75
    Marker Score: 1152
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 299
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 568.5
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.74
    Marker Score: 338
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.73
    Marker Score: 3929
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.71
    Marker Score: 2801
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.71
    Marker Score: 582
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.7
    Marker Score: 23753
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.7
    Marker Score: 442
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.69
    Marker Score: 493
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.69
    Marker Score: 2890
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.69
    Marker Score: 247
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.69
    Marker Score: 189
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 617
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.67
    Marker Score: 718
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.67
    Marker Score: 193
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.67
    Marker Score: 2763
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.66
    Marker Score: 8747
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.65
    Marker Score: 271
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.65
    Marker Score: 1538
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.65
    Marker Score: 1537
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.65
    Marker Score: 714
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.64
    Marker Score: 207
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.64
    Marker Score: 307
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.64
    Marker Score: 397
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.63
    Marker Score: 151
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.62
    Marker Score: 4693
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.62
    Marker Score: 596
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.61
    Marker Score: 152
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.61
    Marker Score: 865
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.61
    Marker Score: 324
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.61
    Marker Score: 22421
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.61
    Marker Score: 152
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6
    Marker Score: 3595
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.59
    Marker Score: 403
  • Cell Name: centroblast (CL0009112)
    Fold Change: 0.58
    Marker Score: 288
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.58
    Marker Score: 295
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.58
    Marker Score: 897
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.58
    Marker Score: 154
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.58
    Marker Score: 19726
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.58
    Marker Score: 202

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Other Information

## Summary EZH2 is a highly conserved gene that plays a critical role in the development of the central nervous system (CNS). It is expressed in a variety of neural progenitor cell types and is essential for the proper specification of these cells. EZH2 is a key regulator of hox gene expression, which are responsible for specifying the fate of cells in the CNS. ## Key characteristics * EZH2 is a transcription factor that is expressed in a variety of neural progenitor cell types. * It is essential for the specification of neural fate in the developing CNS. * EZH2 binds to DNA sequences called Hox-boxes and recruits other transcription factors to regulate gene expression. * It is a key regulator of hox gene expression, which are responsible for specifying the fate of cells in the CNS. ## Pathways and functions * EZH2 is a key regulator of hox gene expression. * It binds to DNA sequences called Hox-boxes and recruits other transcription factors to regulate gene expression. * It is essential for the specification of neural fate in the developing CNS. * EZH2 is also involved in a variety of cellular responses, including cell cycle regulation, differentiation, and apoptosis. ## Clinical significance * Mutations in EZH2 have been linked to a number of human diseases, including autism, schizophrenia, and developmental disorders. * These diseases are characterized by abnormal brain development and function. * EZH2 is a promising target for the treatment of these disorders. ## Additional information * The EZH2 gene is located on chromosome 17q21.2. * It is a member of the polycomb family of transcription factors. * EZH2 is a highly conserved gene, with a similar protein found in other vertebrates.

Genular Protein ID: 3917042194

Symbol: EZH2_HUMAN

Name: ENX-1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8954776

Title: Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2.

PubMed ID: 8954776

DOI: 10.1006/geno.1996.0588

PubMed ID: 9214638

Title: Mammalian homologues of the Polycomb-group gene Enhancer of zeste mediate gene silencing in Drosophila heterochromatin and at S. cerevisiae telomeres.

PubMed ID: 9214638

DOI: 10.1093/emboj/16.11.3219

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8649418

Title: Interaction of Vav with ENX-1, a putative transcriptional regulator of homeobox gene expression.

PubMed ID: 8649418

DOI: 10.1128/mcb.16.6.3066

PubMed ID: 9499421

Title: Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.

PubMed ID: 9499421

DOI: 10.1093/hmg/7.4.679

PubMed ID: 9584199

Title: Characterization of interactions between the mammalian polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian polycomb-group protein complexes.

PubMed ID: 9584199

DOI: 10.1128/mcb.18.6.3586

PubMed ID: 10581039

Title: Transcriptional repression mediated by the human polycomb-group protein EED involves histone deacetylation.

PubMed ID: 10581039

DOI: 10.1038/70602

PubMed ID: 11158321

Title: The polycomb group protein EED interacts with YY1, and both proteins induce neural tissue in Xenopus embryos.

PubMed ID: 11158321

DOI: 10.1128/mcb.21.4.1360-1369.2001

PubMed ID: 12435631

Title: Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein.

PubMed ID: 12435631

DOI: 10.1101/gad.1035902

PubMed ID: 12101246

Title: Selective interactions between vertebrate polycomb homologs and the SUV39H1 histone lysine methyltransferase suggest that histone H3-K9 methylation contributes to chromosomal targeting of Polycomb group proteins.

PubMed ID: 12101246

DOI: 10.1128/mcb.22.15.5539-5553.2002

PubMed ID: 12351676

Title: Role of histone H3 lysine 27 methylation in Polycomb-group silencing.

PubMed ID: 12351676

DOI: 10.1126/science.1076997

PubMed ID: 14532106

Title: EZH2 is downstream of the pRB-E2F pathway, essential for proliferation and amplified in cancer.

PubMed ID: 14532106

DOI: 10.1093/emboj/cdg542

PubMed ID: 15385962

Title: Suz12 is essential for mouse development and for EZH2 histone methyltransferase activity.

PubMed ID: 15385962

DOI: 10.1038/sj.emboj.7600402

PubMed ID: 15231737

Title: Silencing of human polycomb target genes is associated with methylation of histone H3 Lys 27.

PubMed ID: 15231737

DOI: 10.1101/gad.1200204

PubMed ID: 15099518

Title: Different EZH2-containing complexes target methylation of histone H1 or nucleosomal histone H3.

PubMed ID: 15099518

DOI: 10.1016/s1097-2765(04)00185-6

PubMed ID: 15225548

Title: SUZ12 is required for both the histone methyltransferase activity and the silencing function of the EED-EZH2 complex.

PubMed ID: 15225548

DOI: 10.1016/j.molcel.2004.06.020

PubMed ID: 15208672

Title: Activated p53 suppresses the histone methyltransferase EZH2 gene.

PubMed ID: 15208672

DOI: 10.1038/sj.onc.1207706

PubMed ID: 16179254

Title: The human tumor antigen PRAME is a dominant repressor of retinoic acid receptor signaling.

PubMed ID: 16179254

DOI: 10.1016/j.cell.2005.07.003

PubMed ID: 15684044

Title: Composition and histone substrates of polycomb repressive group complexes change during cellular differentiation.

PubMed ID: 15684044

DOI: 10.1073/pnas.0409875102

PubMed ID: 16224021

Title: Akt-mediated phosphorylation of EZH2 suppresses methylation of lysine 27 in histone H3.

PubMed ID: 16224021

DOI: 10.1126/science.1118947

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: 16618801

Title: Genome-wide mapping of Polycomb target genes unravels their roles in cell fate transitions.

PubMed ID: 16618801

DOI: 10.1101/gad.381706

PubMed ID: 16431907

Title: Substrate preferences of the EZH2 histone methyltransferase complex.

PubMed ID: 16431907

DOI: 10.1074/jbc.m513425200

PubMed ID: 16717091

Title: The polycomb group protein EZH2 is required for mammalian circadian clock function.

PubMed ID: 16717091

DOI: 10.1074/jbc.m603722200

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: 16357870

Title: The Polycomb group protein EZH2 directly controls DNA methylation.

PubMed ID: 16357870

DOI: 10.1038/nature04431

PubMed ID: 16936726

Title: Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells.

PubMed ID: 16936726

DOI: 10.1038/nsmb1142

PubMed ID: 17210787

Title: pRB family proteins are required for H3K27 trimethylation and Polycomb repression complexes binding to and silencing p16INK4alpha tumor suppressor gene.

PubMed ID: 17210787

DOI: 10.1101/gad.1499407

PubMed ID: 17344414

Title: The Polycomb group proteins bind throughout the INK4A-ARF locus and are disassociated in senescent cells.

PubMed ID: 17344414

DOI: 10.1101/gad.415507

PubMed ID: 17200670

Title: Polycomb-mediated methylation on Lys27 of histone H3 pre-marks genes for de novo methylation in cancer.

PubMed ID: 17200670

DOI: 10.1038/ng1950

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: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19026781

Title: Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms.

PubMed ID: 19026781

DOI: 10.1016/j.molcel.2008.11.004

PubMed ID: 18086877

Title: Role of hPHF1 in H3K27 methylation and Hox gene silencing.

PubMed ID: 18086877

DOI: 10.1128/mcb.01589-07

PubMed ID: 18285464

Title: Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo.

PubMed ID: 18285464

DOI: 10.1128/mcb.02017-07

PubMed ID: 18628979

Title: The polycomb repressive complex 2 is a potential target of SUMO modifications.

PubMed ID: 18628979

DOI: 10.1371/journal.pone.0002704

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: 20935635

Title: Cyclin-dependent kinases regulate epigenetic gene silencing through phosphorylation of EZH2.

PubMed ID: 20935635

DOI: 10.1038/ncb2116

PubMed ID: 20068231

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

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22009739

Title: Corepressor protein CDYL functions as a molecular bridge between polycomb repressor complex 2 and repressive chromatin mark trimethylated histone lysine 27.

PubMed ID: 22009739

DOI: 10.1074/jbc.m111.271064

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: 23063525

Title: EZH2 generates a methyl degron that is recognized by the DCAF1/DDB1/CUL4 E3 ubiquitin ligase complex.

PubMed ID: 23063525

DOI: 10.1016/j.molcel.2012.09.004

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24474760

Title: O-GlcNAcylation regulates EZH2 protein stability and function.

PubMed ID: 24474760

DOI: 10.1073/pnas.1323226111

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: 30026490

Title: Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4.

PubMed ID: 30026490

DOI: 10.1038/s41467-018-05286-2

PubMed ID: 31086175

Title: PFA ependymoma-associated protein EZHIP inhibits PRC2 activity through a H3 K27M-like mechanism.

PubMed ID: 31086175

DOI: 10.1038/s41467-019-09981-6

PubMed ID: 31451685

Title: EZHIP constrains Polycomb Repressive Complex 2 activity in germ cells.

PubMed ID: 31451685

DOI: 10.1038/s41467-019-11800-x

PubMed ID: 30923826

Title: EZHIP / CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma.

PubMed ID: 30923826

DOI: 10.1093/neuonc/noz058

PubMed ID: 33323928

Title: Suppression of poised oncogenes by ZMYND8 promotes chemo-sensitization.

PubMed ID: 33323928

DOI: 10.1038/s41419-020-03129-x

PubMed ID: 32051553

Title: The EGFR-ZNF263 signaling axis silences SIX3 in glioblastoma epigenetically.

PubMed ID: 32051553

DOI: 10.1038/s41388-020-1206-7

PubMed ID: 36064715

Title: ZMYND8 suppresses MAPT213 LncRNA transcription to promote neuronal differentiation.

PubMed ID: 36064715

DOI: 10.1038/s41419-022-05212-x

PubMed ID: 20081860

Title: Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.

PubMed ID: 20081860

DOI: 10.1038/ng.518

PubMed ID: 20601953

Title: Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.

PubMed ID: 20601953

DOI: 10.1038/ng.621

PubMed ID: 21190999

Title: Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation.

PubMed ID: 21190999

DOI: 10.1182/blood-2010-11-321208

PubMed ID: 21828135

Title: Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.

PubMed ID: 21828135

DOI: 10.1182/blood-2010-10-311019

PubMed ID: 22190405

Title: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

PubMed ID: 22190405

DOI: 10.18632/oncotarget.385

PubMed ID: 22177091

Title: Mutations in EZH2 cause Weaver syndrome.

PubMed ID: 22177091

DOI: 10.1016/j.ajhg.2011.11.018

PubMed ID: 22323599

Title: Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27).

PubMed ID: 22323599

DOI: 10.1073/pnas.1116418109

PubMed ID: 23239504

Title: Weaver syndrome and defective cortical development: a rare association.

PubMed ID: 23239504

DOI: 10.1002/ajmg.a.35660

PubMed ID: 26694085

Title: Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

PubMed ID: 26694085

DOI: 10.1002/humu.22946

PubMed ID: 28229514

Title: Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

PubMed ID: 28229514

DOI: 10.1002/humu.23200

Sequence Information:

  • Length: 746
  • Mass: 85363
  • Checksum: 1B5029EB9D509BE5
  • Sequence:
  • MGQTGKKSEK GPVCWRKRVK SEYMRLRQLK RFRRADEVKS MFSSNRQKIL ERTEILNQEW 
    KQRRIQPVHI LTSVSSLRGT RECSVTSDLD FPTQVIPLKT LNAVASVPIM YSWSPLQQNF 
    MVEDETVLHN IPYMGDEVLD QDGTFIEELI KNYDGKVHGD RECGFINDEI FVELVNALGQ 
    YNDDDDDDDG DDPEEREEKQ KDLEDHRDDK ESRPPRKFPS DKIFEAISSM FPDKGTAEEL 
    KEKYKELTEQ QLPGALPPEC TPNIDGPNAK SVQREQSLHS FHTLFCRRCF KYDCFLHPFH 
    ATPNTYKRKN TETALDNKPC GPQCYQHLEG AKEFAAALTA ERIKTPPKRP GGRRRGRLPN 
    NSSRPSTPTI NVLESKDTDS DREAGTETGG ENNDKEEEEK KDETSSSSEA NSRCQTPIKM 
    KPNIEPPENV EWSGAEASMF RVLIGTYYDN FCAIARLIGT KTCRQVYEFR VKESSIIAPA 
    PAEDVDTPPR KKKRKHRLWA AHCRKIQLKK DGSSNHVYNY QPCDHPRQPC DSSCPCVIAQ 
    NFCEKFCQCS SECQNRFPGC RCKAQCNTKQ CPCYLAVREC DPDLCLTCGA ADHWDSKNVS 
    CKNCSIQRGS KKHLLLAPSD VAGWGIFIKD PVQKNEFISE YCGEIISQDE ADRRGKVYDK 
    YMCSFLFNLN NDFVVDATRK GNKIRFANHS VNPNCYAKVM MVNGDHRIGI FAKRAIQTGE 
    ELFFDYRYSQ ADALKYVGIE REMEIP

Genular Protein ID: 4225890619

Symbol: A0A090N8E9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 751
  • Mass: 86018
  • Checksum: D885CF02E60EF836
  • Sequence:
  • MGQTGKKSEK GPVCWRKRVK SEYMRLRQLK RFRRADEVKS MFSSNRQKIL ERTEILNQEW 
    KQRRIQPVHI LTSVSSLRGT RECSVTSDLD FPTQVIPLKT LNAVASVPIM YSWSPLQQNF 
    MVEDETVLHN IPYMGDEVLD QDGTFIEELI KNYDGKVHGD RECGFINDEI FVELVNALGQ 
    YNDDDDDDDG DDPEEREEKQ KDLEDHRDDK ESRPPRKFPS DKIFEAISSM FPDKGTAEEL 
    KEKYKELTEQ QLPGALPPEC TPNIDGPNAK SVQREQSLHS FHTLFCRRCF KYDCFLHRKC 
    NYSFHATPNT YKRKNTETAL DNKPCGPQCY QHLEGAKEFA AALTAERIKT PPKRPGGRRR 
    GRLPNNSSRP STPTINVLES KDTDSDREAG TETGGENNDK EEEEKKDETS SSSEANSRCQ 
    TPIKMKPNIE PPENVEWSGA EASMFRVLIG TYYDNFCAIA RLIGTKTCRQ VYEFRVKESS 
    IIAPAPAEDV DTPPRKKKRK HRLWAAHCRK IQLKKDGSSN HVYNYQPCDH PRQPCDSSCP 
    CVIAQNFCEK FCQCSSECQN RFPGCRCKAQ CNTKQCPCYL AVRECDPDLC LTCGAADHWD 
    SKNVSCKNCS IQRGSKKHLL LAPSDVAGWG IFIKDPVQKN EFISEYCGEI ISQDEADRRG 
    KVYDKYMCSF LFNLNNDFVV DATRKGNKIR FANHSVNPNC YAKVMMVNGD HRIGIFAKRA 
    IQTGEELFFD YRYSQADALK YVGIEREMEI P

Genular Protein ID: 2285955426

Symbol: S4S3R8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 707
  • Mass: 81038
  • Checksum: 48EAF1393A9EA4F2
  • Sequence:
  • MGQTGKKSEK GPVCWRKRVK SEYMRLRQLK RFRRADEVKS MFSSNRQKIL ERTEILNQEW 
    KQRRIQPVHI LTSVSSLRGT REVEDETVLH NIPYMGDEVL DQDGTFIEEL IKNYDGKVHG 
    DRECGFINDE IFVELVNALG QYNDDDDDDD GDDPEEREEK QKDLEDHRDD KESRPPRKFP 
    SDKIFEAISS MFPDKGTAEE LKEKYKELTE QQLPGALPPE CTPNIDGPNA KSVQREQSLH 
    SFHTLFCRRC FKYDCFLHPF HATPNTYKRK NTETALDNKP CGPQCYQHLE GAKEFAAALT 
    AERIKTPPKR PGGRRRGRLP NNSSRPSTPT INVLESKDTD SDREAGTETG GENNDKEEEE 
    KKDETSSSSE ANSRCQTPIK MKPNIEPPEN VEWSGAEASM FRVLIGTYYD NFCAIARLIG 
    TKTCRQVYEF RVKESSIIAP APAEDVDTPP RKKKRKHRLW AAHCRKIQLK KDGSSNHVYN 
    YQPCDHPRQP CDSSCPCVIA QNFCEKFCQC SSECQNRFPG CRCKAQCNTK QCPCYLAVRE 
    CDPDLCLTCG AADHWDSKNV SCKNCSIQRG SKKHLLLAPS DVAGWGIFIK DPVQKNEFIS 
    EYCGEIISQD EADRRGKVYD KYMCSFLFNL NNDFVVDATR KGNKIRFANH SVNPNCYAKV 
    MMVNGDHRIG IFAKRAIQTG EELFFDYRYS QADALKYVGI EREMEIP

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. For the full schema, download it here.