Details for: DNMT3A

Gene ID: 1788

Symbol: DNMT3A

Ensembl ID: ENSG00000119772

Description: DNA methyltransferase 3 alpha

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: 257.9314
    Cell Significance Index: -40.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 139.8814
    Cell Significance Index: -35.4800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 78.1032
    Cell Significance Index: -31.7300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 70.3753
    Cell Significance Index: -36.2000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 33.6426
    Cell Significance Index: -32.1200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 32.5965
    Cell Significance Index: -40.1900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.6059
    Cell Significance Index: -41.7900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.8264
    Cell Significance Index: -34.3600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.5890
    Cell Significance Index: -23.1800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.2406
    Cell Significance Index: -40.4100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.6074
    Cell Significance Index: 159.5700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 3.3094
    Cell Significance Index: 125.3200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.1685
    Cell Significance Index: 25.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1646
    Cell Significance Index: 434.2200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7730
    Cell Significance Index: 351.8600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4113
    Cell Significance Index: 506.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.4100
    Cell Significance Index: 97.5100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.4064
    Cell Significance Index: 36.1500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.2405
    Cell Significance Index: 1120.0800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2387
    Cell Significance Index: 69.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.0567
    Cell Significance Index: 66.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.0412
    Cell Significance Index: 70.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8668
    Cell Significance Index: 66.5200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8352
    Cell Significance Index: 22.3800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8113
    Cell Significance Index: 131.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7498
    Cell Significance Index: 81.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.7453
    Cell Significance Index: 38.8200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.6280
    Cell Significance Index: 17.9200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6122
    Cell Significance Index: 37.6300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5659
    Cell Significance Index: 33.9800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5433
    Cell Significance Index: 13.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3434
    Cell Significance Index: 15.5700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3003
    Cell Significance Index: 41.2400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2997
    Cell Significance Index: 7.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2936
    Cell Significance Index: 8.4600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2832
    Cell Significance Index: 6.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2753
    Cell Significance Index: 150.3400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2446
    Cell Significance Index: 5.3000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1981
    Cell Significance Index: 19.6000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1848
    Cell Significance Index: 6.4200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1704
    Cell Significance Index: 3.1500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1365
    Cell Significance Index: 2.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1341
    Cell Significance Index: 24.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1156
    Cell Significance Index: 52.4800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1059
    Cell Significance Index: 199.3400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0763
    Cell Significance Index: 117.5200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0741
    Cell Significance Index: 14.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0737
    Cell Significance Index: 4.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0597
    Cell Significance Index: 110.0200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0561
    Cell Significance Index: 6.9000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0509
    Cell Significance Index: 22.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0496
    Cell Significance Index: 67.5000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0290
    Cell Significance Index: 1.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0270
    Cell Significance Index: 17.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0200
    Cell Significance Index: 3.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0034
    Cell Significance Index: 0.0900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0113
    Cell Significance Index: -7.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0198
    Cell Significance Index: -14.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0227
    Cell Significance Index: -16.6200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0232
    Cell Significance Index: -3.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0460
    Cell Significance Index: -34.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0467
    Cell Significance Index: -26.3300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0750
    Cell Significance Index: -1.2600
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.0792
    Cell Significance Index: -0.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0845
    Cell Significance Index: -3.9400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1092
    Cell Significance Index: -23.0100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1168
    Cell Significance Index: -6.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1198
    Cell Significance Index: -34.4700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1361
    Cell Significance Index: -15.8600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1578
    Cell Significance Index: -3.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1582
    Cell Significance Index: -16.1700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1662
    Cell Significance Index: -21.3000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1692
    Cell Significance Index: -1.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1999
    Cell Significance Index: -25.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2002
    Cell Significance Index: -22.9400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2140
    Cell Significance Index: -4.4400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2427
    Cell Significance Index: -27.7000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2578
    Cell Significance Index: -5.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2730
    Cell Significance Index: -28.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2766
    Cell Significance Index: -14.3700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2808
    Cell Significance Index: -33.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2927
    Cell Significance Index: -8.1800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2982
    Cell Significance Index: -4.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3021
    Cell Significance Index: -14.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3192
    Cell Significance Index: -23.7900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.3319
    Cell Significance Index: -2.6500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3485
    Cell Significance Index: -5.1500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3497
    Cell Significance Index: -7.3200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3516
    Cell Significance Index: -11.2600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3815
    Cell Significance Index: -9.7500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3977
    Cell Significance Index: -8.4400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4174
    Cell Significance Index: -33.0600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.4520
    Cell Significance Index: -6.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4554
    Cell Significance Index: -27.9200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4820
    Cell Significance Index: -6.0100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5149
    Cell Significance Index: -12.8700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5267
    Cell Significance Index: -12.8500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5267
    Cell Significance Index: -37.2500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5375
    Cell Significance Index: -10.6300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5680
    Cell Significance Index: -18.0900

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** DNMT3A is a cytosine-5-methyltransferase enzyme that catalyzes the transfer of a methyl group to the 5th carbon atom of cytosine in DNA, resulting in DNA methylation. This process is crucial for the regulation of gene expression, as it can lead to the silencing of genes or the activation of gene expression. DNMT3A is unique in that it is capable of de novo methylation, meaning that it can introduce new methylation marks into the genome without the presence of pre-existing methylation marks. DNMT3A is also characterized by its ability to interact with other proteins and complexes, including histone-modifying enzymes, transcription factors, and chromatin remodeling complexes. These interactions allow DNMT3A to regulate gene expression through the modulation of chromatin structure and the recruitment of transcriptional machinery. **Pathways and Functions** DNMT3A is involved in a range of cellular processes, including: 1. **Genomic Imprinting**: DNMT3A is essential for the establishment and maintenance of genomic imprinting, which is the process by which certain genes are silenced or activated based on their parental origin. 2. **Epigenetic Regulation**: DNMT3A plays a crucial role in the regulation of gene expression through DNA methylation, which can lead to the silencing of genes or the activation of gene expression. 3. **Cell Differentiation**: DNMT3A is involved in the regulation of cell differentiation, particularly in the development of immune cells and neurons. 4. **Apoptosis**: DNMT3A is also involved in the regulation of apoptosis, particularly in the context of cellular stress and injury. 5. **Response to Environmental Stimuli**: DNMT3A is involved in the regulation of gene expression in response to environmental stimuli, such as DNA damage and oxidative stress. **Clinical Significance** DNMT3A has been implicated in various diseases, including: 1. **Cancer**: DNMT3A is often hypermethylated in cancer cells, leading to the silencing of tumor suppressor genes and the activation of oncogenes. 2. **Neurological Disorders**: DNMT3A has been implicated in the development of neurological disorders, such as autism and schizophrenia, where epigenetic dysregulation is thought to play a key role. 3. **Immune System Disorders**: DNMT3A is involved in the regulation of immune cell function, and dysregulation of DNMT3A has been implicated in immune system disorders, such as autoimmune diseases. In conclusion, DNMT3A is a critical enzyme involved in the regulation of gene expression through DNA methylation. Its dysregulation has been implicated in a range of diseases, highlighting the importance of understanding the mechanisms of DNMT3A in normal and diseased states. Further research is needed to elucidate the complex roles of DNMT3A in cellular processes and to develop therapeutic strategies targeting this enzyme.

Genular Protein ID: 3188857788

Symbol: DNM3A_HUMAN

Name: DNA (cytosine-5)-methyltransferase 3A

UniProtKB Accession Codes:

Q9Y6K1 E9PEB8 Q86TE8 Q86XF5 Q8IZV0 Q8WXU9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CORUM 1 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 8 EMDB 2 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 43 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 24 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 REBASE 1 RNAct 1 Reactome 6 RefSeq 11 Rhea 8 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10433969

Title: Cloning, expression and chromosome locations of the human DNMT3 gene family.

PubMed ID: 10433969

DOI: 10.1016/s0378-1119(99)00252-8

PubMed ID: 12138111

Title: A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PubMed ID: 12138111

DOI: 10.1074/jbc.m205312200

PubMed ID: 12145218

Title: Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.

PubMed ID: 12145218

DOI: 10.1093/emboj/cdf401

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 10325416

Title: The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PubMed ID: 10325416

DOI: 10.1093/nar/27.11.2291

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: 16682412

Title: The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells.

PubMed ID: 16682412

DOI: 10.1074/jbc.m513249200

PubMed ID: 16357870

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

PubMed ID: 16357870

DOI: 10.1038/nature04431

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20871592

Title: Methyl-H3K9-binding protein MPP8 mediates E-cadherin gene silencing and promotes tumour cell motility and invasion.

PubMed ID: 20871592

DOI: 10.1038/emboj.2010.239

PubMed ID: 21067377

Title: DNMT3A mutations in acute myeloid leukemia.

PubMed ID: 21067377

DOI: 10.1056/nejmoa1005143

PubMed ID: 20068231

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

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

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: 24614070

Title: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PubMed ID: 24614070

DOI: 10.1038/ng.2917

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: 30478443

Title: Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

PubMed ID: 30478443

DOI: 10.1038/s41588-018-0274-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: 17713477

Title: Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation.

PubMed ID: 17713477

DOI: 10.1038/nature06146

PubMed ID: 19834512

Title: Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX-DNMT3-DNMT3L domain.

PubMed ID: 19834512

DOI: 10.1038/embor.2009.218

PubMed ID: 22086334

Title: MPP8 mediates the interactions between DNA methyltransferase Dnmt3a and H3K9 methyltransferase GLP/G9a.

PubMed ID: 22086334

DOI: 10.1038/ncomms1549

PubMed ID: 21720545

Title: Structural and histone binding ability characterizations of human PWWP domains.

PubMed ID: 21720545

DOI: 10.1371/journal.pone.0018919

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: 27701732

Title: Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PubMed ID: 27701732

DOI: 10.1111/cge.12878

PubMed ID: 27317772

Title: SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

PubMed ID: 27317772

DOI: 10.1136/jmedgenet-2015-103638

PubMed ID: 27991732

Title: Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PubMed ID: 27991732

DOI: 10.1002/ajmg.a.37995

PubMed ID: 28941052

Title: The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PubMed ID: 28941052

DOI: 10.1002/ajmg.a.38485

PubMed ID: 28432085

Title: Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation.

PubMed ID: 28432085

DOI: 10.1136/jmedgenet-2017-104574

Sequence Information:

  • Length: 912
  • Mass: 101858
  • Checksum: BD1FF7C5B4F54A33
  • Sequence:
    • MPAMPSSGPG DTSSSAAERE EDRKDGEEQE EPRGKEERQE PSTTARKVGR PGRKRKHPPV 
ESGDTPKDPA VISKSPSMAQ DSGASELLPN GDLEKRSEPQ PEEGSPAGGQ KGGAPAEGEG 
AAETLPEASR AVENGCCTPK EGRGAPAEAG KEQKETNIES MKMEGSRGRL RGGLGWESSL 
RQRPMPRLTF QAGDPYYISK RKRDEWLARW KREAEKKAKV IAGMNAVEEN QGPGESQKVE 
EASPPAVQQP TDPASPTVAT TPEPVGSDAG DKNATKAGDD EPEYEDGRGF GIGELVWGKL 
RGFSWWPGRI VSWWMTGRSR AAEGTRWVMW FGDGKFSVVC VEKLMPLSSF CSAFHQATYN 
KQPMYRKAIY EVLQVASSRA GKLFPVCHDS DESDTAKAVE VQNKPMIEWA LGGFQPSGPK 
GLEPPEEEKN PYKEVYTDMW VEPEAAAYAP PPPAKKPRKS TAEKPKVKEI IDERTRERLV 
YEVRQKCRNI EDICISCGSL NVTLEHPLFV GGMCQNCKNC FLECAYQYDD DGYQSYCTIC 
CGGREVLMCG NNNCCRCFCV ECVDLLVGPG AAQAAIKEDP WNCYMCGHKG TYGLLRRRED 
WPSRLQMFFA NNHDQEFDPP KVYPPVPAEK RKPIRVLSLF DGIATGLLVL KDLGIQVDRY 
IASEVCEDSI TVGMVRHQGK IMYVGDVRSV TQKHIQEWGP FDLVIGGSPC NDLSIVNPAR 
KGLYEGTGRL FFEFYRLLHD ARPKEGDDRP FFWLFENVVA MGVSDKRDIS RFLESNPVMI 
DAKEVSAAHR ARYFWGNLPG MNRPLASTVN DKLELQECLE HGRIAKFSKV RTITTRSNSI 
KQGKDQHFPV FMNEKEDILW CTEMERVFGF PVHYTDVSNM SRLARQRLLG RSWSVPVIRH 
LFAPLKEYFA CV

Genular Protein ID: 730712520

Symbol: Q59HC6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59HC6

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 3 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 5 RefSeq 1 SAM 1 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 811
  • Mass: 89707
  • Checksum: F69CFB26CCEAA4D5
  • Sequence:
    • LSPPKTTIIP SPKPSSPPAP RSPSLPPGAQ MPAMPSSGPG DTSSSAAERE EDRKDGEEQE 
EPRGKEERQE PSTTARKVGR PGRKRKHPPV ESGDTPKDPA VISKSPSMAQ DSGASELLPN 
GDLEKRSEPQ PEEGSPAGGQ KGGAPAEGEG AAETLPEASR AVENGCCTPK EGRGAPAEAG 
KEQKETNIES MKMEGSRGRL RGGLGWESSL RQRPMPRLTF QAGDPYYISK RKRDEWLARW 
KREAEKKAKV IAGMNAVEEN QGPGESQKVE EASPPAVQQP TDPASPTVAT TPEPVGSDAG 
DKNATKAGDD EPEYEDGRGF GIGELVWGKL RGFSWWPGRI VSWWMTGRSR AAEGTRWVMW 
FGDGKFSVVC VEKLMPLSSF CSAFHQATYN KQPMYRKAIY EVLQVASSRA GKLFPVCHDS 
DESDTAKAVE VQNKPMIEWA LGGFQPSGPK GLEPPEEEKN PYKEVYTDMW VEPEAAAYAP 
PPPAKKPRKS TAEKPKVKEI IDERTRERLV YEVRQKCRNI EDICISCGSL NVTLEHPLFV 
GGMCQNCKNC FLECAYQYDD DGYQSYCTIC CGGREVLMCG NNNCCRCFCV ECVDLLVGPG 
AAQAAIKEDP WNCYMCGHKG TYGLLRRRED WPSRLQMFFA NNHDQEFDPP KVYPPVPAEK 
RKPIRVLSLF DGIATGLLVL KDLGIQVDRY IASEVCEDSI TVGMVRHQGK IMYVGDVRSV 
TQKHIQEWGP FDLVIGGSPC NDLSIVNPAR KGLYEGTGRL FFEFYRLLHD ARPKEGDDRP 
FFWLFENVVA MGVSDKRDIS RFLEVQNSHL Y

Genular Protein ID: 145639288

Symbol: F8WE91_HUMAN

Name: N/A

UniProtKB Accession Codes:

F8WE91

Database IDs:

ARBA 10 AlphaFoldDB 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 3 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 5 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

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

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

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

PubMed ID: 28112733

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

PubMed ID: 28112733

Sequence Information:

  • Length: 781
  • Mass: 86722
  • Checksum: 9D25E1C304B1ADC0
  • Sequence:
    • MPAMPSSGPG DTSSSAAERE EDRKDGEEQE EPRGKEERQE PSTTARKVGR PGRKRKHPPV 
ESGDTPKDPA VISKSPSMAQ DSGASELLPN GDLEKRSEPQ PEEGSPAGGQ KGGAPAEGEG 
AAETLPEASR AVENGCCTPK EGRGAPAEAG KEQKETNIES MKMEGSRGRL RGGLGWESSL 
RQRPMPRLTF QAGDPYYISK RKRDEWLARW KREAEKKAKV IAGMNAVEEN QGPGESQKVE 
EASPPAVQQP TDPASPTVAT TPEPVGSDAG DKNATKAGDD EPEYEDGRGF GIGELVWGKL 
RGFSWWPGRI VSWWMTGRSR AAEGTRWVMW FGDGKFSVVC VEKLMPLSSF CSAFHQATYN 
KQPMYRKAIY EVLQVASSRA GKLFPVCHDS DESDTAKAVE VQNKPMIEWA LGGFQPSGPK 
GLEPPEEEKN PYKEVYTDMW VEPEAAAYAP PPPAKKPRKS TAEKPKVKEI IDERTRERLV 
YEVRQKCRNI EDICISCGSL NVTLEHPLFV GGMCQNCKNC FLECAYQYDD DGYQSYCTIC 
CGGREVLMCG NNNCCRCFCV ECVDLLVGPG AAQAAIKEDP WNCYMCGHKG TYGLLRRRED 
WPSRLQMFFA NNHDQEFDPP KVYPPVPAEK RKPIRVLSLF DGIATGLLVL KDLGIQVDRY 
IASEVCEDSI TVGMVRHQGK IMYVGDVRSV TQKHIQEWGP FDLVIGGSPC NDLSIVNPAR 
KGLYEGTGRL FFEFYRLLHD ARPKEGDDRP FFWLFENVVA MGVSDKRDIS RFLEVQNSHL 
Y

Genular Protein ID: 3266287541

Symbol: A0A0C4DG02_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0C4DG02

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 3 GO 5 Gene3D 3 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 5 Proteomes 2 ProteomicsDB 1 RefSeq 3 SAM 1 SMART 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 20068231

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

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

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

Sequence Information:

  • Length: 689
  • Mass: 77817
  • Checksum: A4117B9679A83508
  • Sequence:
    • MNAVEENQGP GESQKVEEAS PPAVQQPTDP ASPTVATTPE PVGSDAGDKN ATKAGDDEPE 
YEDGRGFGIG ELVWGKLRGF SWWPGRIVSW WMTGRSRAAE GTRWVMWFGD GKFSVVCVEK 
LMPLSSFCSA FHQATYNKQP MYRKAIYEVL QVASSRAGKL FPVCHDSDES DTAKAVEVQN 
KPMIEWALGG FQPSGPKGLE PPEEEKNPYK EVYTDMWVEP EAAAYAPPPP AKKPRKSTAE 
KPKVKEIIDE RTRERLVYEV RQKCRNIEDI CISCGSLNVT LEHPLFVGGM CQNCKNCFLE 
CAYQYDDDGY QSYCTICCGG REVLMCGNNN CCRCFCVECV DLLVGPGAAQ AAIKEDPWNC 
YMCGHKGTYG LLRRREDWPS RLQMFFANNH DQEFDPPKVY PPVPAEKRKP IRVLSLFDGI 
ATGLLVLKDL GIQVDRYIAS EVCEDSITVG MVRHQGKIMY VGDVRSVTQK HIQEWGPFDL 
VIGGSPCNDL SIVNPARKGL YEGTGRLFFE FYRLLHDARP KEGDDRPFFW LFENVVAMGV 
SDKRDISRFL ESNPVMIDAK EVSAAHRARY FWGNLPGMNR PLASTVNDKL ELQECLEHGR 
IAKFSKVRTI TTRSNSIKQG KDQHFPVFMN EKEDILWCTE MERVFGFPVH YTDVSNMSRL 
ARQRLLGRSW SVPVIRHLFA PLKEYFACV

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.