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DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha)

Written2013-03Yuan-Yeh Kuo, Li-Yu Li, Hwei-Fang Tien
Graduate Institute of Oncology, National Taiwan University College of Medicine, Taipei, Taiwan (YYK, LYL); Department of Internal Medicine, National Taiwan University Hospital, No.7, Chung-Shan S. Road, Taipei, Taiwan (HFT)

(Note : for Links provided by Atlas : click)


Alias_namesDNA (cytosine-5-)-methyltransferase 3 alpha
Other aliasDNMT3A2
LocusID (NCBI) 1788
Atlas_Id 40349
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 25281452 and ends at 25342590 bp from pter ( according to hg19-Feb_2009)  [Mapping DNMT3A.png]
Local_order The human DNMT3A is telomeric to DTNB (dystrobrevin, beta) and centromeric to POMC (proopiomelanocortin).
  Genomic localization of human DNMT3A gene. POMC, proopiomelanocortin; DTNB, dystrobrevin, beta.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DNMT3A (2p23.3) / ADCY3 (2p23.3)DNMT3A (2p23.3) / NUMA1 (11q13.4)DNMT3A (2p23.3) / TRPC6 (11q22.1)
Note DNA methylation occurs mainly in the cytosine residues at the C5 positions of CpG dinucleotides and is important in regulating gene expression, parental imprinting, and maintenance of the genome integrity in mammalian cells (Chen and Li, 2006). Aberrant DNA methylation has been reported to play a vital role in the pathogenesis of acute myeloid leukemia (AML) (Rosenbauer and Tenen, 2007). In addition, differences in global DNA methylation signatures have been reported to be associated with differences in treatment outcome for patients with AML (Figueroa et al., 2010a; Figueroa et al., 2010b; Melnick, 2010).
Genome-wide DNA methylation patterns are established and maintained by the coordination of DNMT1 and DNMT3 families of DNA methyltransferases. DNMT1 carries out most of the maintenance methylation following DNA replication, whereas DNMT3A and DNMT3B are responsible for de novo methylation during mammalian development (Brenner and Fuks, 2006; Hermann et al., 2004). Recent studies showed that Dnmt1 is required for hematopoietic stem cell proliferation and myeloid/lymphoid differentiation (Trowbridge et al., 2009). In contrast, conditional deletion of Dnmt3a and Dnmt3b in mouse hematopoietic stem cells impaired self- renewal but not lineage determination, indicating the role of de novo DNA methyltransferase for self-renewal in hematopoietic stem cells (Tadokoro et al., 2007). The third member of the DNMT3 family is DNMT3L which does not have enzymatic activity due to the lack of some critical catalytic motifs (Brenner and Fuks, 2006). It regulates the catalytic activity of DNMT3A and 3B (Hata et al., 2002; Suetake et al., 2004).


Description The DNMT3A gene structure is composed of 23 exons (Xie et al., 1999). A short isoform, named DNMT3A2, is produced from a downstream intronic promoter (Chen et al., 2002).
Transcription Transcription of DNMT3A is initiated from the downstream intronic promoter and leads to expression of DNMT3A2, an isoform lacking the N-terminal region, in embryonic stem cells (ESCs). Expression of this shorter isoform gradually decreases upon ESC differentiation and switches to the full length DNMT3A which remains expressed at low level in most somatic tissues (Chedin, 2011; Chen et al., 2002).


  Structure of DNA methyltransferases. NLS, nuclear localization signal; CXXC, a cysteine rich region; BAH, a bromo-adjacent homology domain; PWWP, a proline-tryptophan-tryptophan-proline domain; ADD, an ATRX-DNMT3-DNMT3L-type zinc finger domain; Mtase, a methyltransferase domain.
Description DNMT3A
AA: 912. EC number: Estimated molecular weight: 101858 Dt.
AA: 689. Estimated molecular weight: 77817 Dt.
DNMT3A contains 3 main structure domains: a proline-tryptophan-tryptophan-proline (PWWP) domain, an ATRX, DNMT3, and DNMT3L-type zinc finger (ADD) domain, and the methyltransferase (Mtase) domain. The PWWP domain is responsible for targeting the enzyme to nucleic acid (Chen et al., 2004). In addition, the PWWP domain is also essential for targeting this enzyme to pericentric heterochromatin (Chen et al., 2004; Ge et al., 2004). The ADD domain mediates protein-protein interactions with transcription factors Myc, RP58, the heterochromatin protein HP1, histone deacetylases, and the histone methyltransferase Suv39h1 (Chen and Li, 2006). The Mtase domain contains six highly conserved cytosine C5-DNA methyltransferase motifs (Jurkowska et al., 2011).
Expression In mouse, Dnmt3a was detected in all tissues except for small intestines, whereas Dnmt3a2 expression was more restricted in testis, spleen and thymus (Chen et al., 2002). In addition to normal tissues, overexpression of DNMT3A has been reported in various human cancers, such as prostate, pancreatic, gastric, liver cancers (Gravina et al., 2013; Oh et al., 2007; Yang et al., 2011; Zhang et al., 2012). Additionally, DNMT3A were detected substantially overexpressed in certain types of leukemia (Mizuno et al., 2001).
Localisation Dnmt3a localizes in the nuclei and is concentrated in nuclear foci. In contrast, Dnmt3a2 showed a diffused pattern excluding nucleoli and heterochromatin. In general, Dnmt3a is thought to associate with heterochmatin, whereas Dnmt3a2 associates mainly with euchromatin (Chen et al., 2002).
Function Similarly to Dnmt1, the Dnmt3a enzyme also uses S-adenosyl methionine (SAM) as the methyl group donor being transferred to the carbon 5 position of the cytosine ring in CpG dinucleotide in DNA. It is essential for the establishment of DNA methylation patterns during development (Jurkowska et al., 2011).In addition to the enzymatic function, Dnmt3a was also shown to suppress transcription, independent of its catalytic activity, that was mediated through the interaction with the histone deacetylase and other co-repressors, such as Mbd3 and Brg1 (Datta et al., 2005; Fuks et al., 2001). Sumoylation of DNMT3A has been reported in the N-terminal domain of the enzyme, which disrupts its interaction with histone deacetylases (HDACs) and thereby impairs the repressive capability of this protein (Ling et al., 2004).
Homology Dnmt3 family proteins share some structural similarity with Dnmt1 at c-terminal Mtase domain. In addition, the DNMT3A and DNMT3B proteins also contain a conserved cystein-rich ATRX, DNMT3, and DNMT3L-type zinc finger (ADD) domain and the proline-tryptophan-tryptophan-proline (PWWP) domain. The N-terminal domains of Dnmt3a and Dnmt3b do not share any sequence homology (Chedin, 2011).


Somatic Recurrent DNMT3A gene mutations were recently reported in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), T-cell lymphoma, and T-cell acute lymphoblastic leukemia (ALL) (Couronne et al., 2012; Grossmann et al., 2013; Hou et al., 2012; Ley et al., 2010; Stegelmann et al., 2011; Walter et al., 2011). The most frequently mutated site is the Arg 882 (R882) residue located in the catalytic domain. These R882 mutants were reported to reduce DNA methylation activity of DNMT3A (Yan et al., 2011).

Implicated in

Entity Acute myeloid leukemia (AML)
Note DNMT3A mutations frequently detected in 7-29% of AML patients. This mutation was associated with normal karyotype, older age, French-American-British (FAB) M4/M5 subtypes, and poor prognosis. Multivariate analysis demonstrated that the DNMT3A mutation was an independent poor prognostic factor for over-all survival and relapse-free survival (Hou et al., 2012; Ley et al., 2010; Thol et al., 2011a; Yan et al., 2011). This mutation was also reported in 35.1% of secondary AML and 16.4% of therapy-related AML in a study of a cohort of 98 patients and found that this mutation was associated with normal karyotype and IDH1/IDH2 mutations, but that it does not affect survival (Shih et al., 2013). Recent reports further demonstrated that the frequency of DNMT3A mutations is rare in childhood AML and MDS, suggesting that the frequency of DNMT3A gene mutation depends on age (Ho et al., 2011; Thol et al., 2011b). In addition, it was also reported that AML patients whose leukemic blasts have low DNMT3A activity, either due to loss-of-functions or low gene expression, may benefit from treatment with hypomethylating agents (Metzeler et al., 2012).
Entity Myelodysplastic syndrome (MDS)
Note Mutations of the DNMT3A gene were detected in 6% of MDS patients and amino acid R882 was the most common mutation site. Patients with DNMT3A mutations had worse overall survival compared with patients without these mutations and more rapid progression to AML (Walter et al., 2011).
Entity Myeloproliferative neoplasms (MPN)
Note In a study of a cohort of 155 patients with MPN, an overall frequency of 10% mutations were most frequently detected in secondary AML (sAML: 17%) and myelofibrosis (MF: 15%), followed by polycythemia vera (PV: 7%) and essential thrombocythemia (ET: 3%). These alterations occurred concurrently with JAK2, IDH1/2 and ASXL1 mutations. In addition, these mutations are associated with more advanced stages of MPNs and with an overall poor prognosis (Stegelmann et al., 2011).
Entity T-cell lymphoma
Note DNMT3A mutations were reported in eleven of 98 patients with T-cell lymphoma and were associated with TET2 mutations (Couronne et al., 2012).
Entity T-cell acute lymphoblastic leukemia (T-ALL)
Note DNMT3A mutations were detected in 16 of 90 patients (17.8%) with T-ALL. These alterations were associated with normal karyotype, lower hemoglobin levels and mutually exclusive in cases with CDKN2A/CDKN2B deletions. Further, these mutations had a strong association with shorter overall survival (Grossmann et al., 2013).
Entity Lung cancer
Note Deletion of Dnmt3a significantly promotes tumor growth and progression in lung cancer mouse model, suggesting that this gene may act like a tumor-suppressor gene and may be a crucial factor of lung cancer malignancy (Gao et al., 2011).


DNA methyltransferases: facts, clues, mysteries.
Brenner C, Fuks F.
Curr Top Microbiol Immunol. 2006;301:45-66. (REVIEW)
PMID 16570845
The DNMT3 family of mammalian de novo DNA methyltransferases.
Chedin F.
Prog Mol Biol Transl Sci. 2011;101:255-85. doi: 10.1016/B978-0-12-387685-0.00007-X. (REVIEW)
PMID 21507354
Establishment and maintenance of DNA methylation patterns in mammals.
Chen T, Li E.
Curr Top Microbiol Immunol. 2006;301:179-201. (REVIEW)
PMID 16570848
The PWWP domain of Dnmt3a and Dnmt3b is required for directing DNA methylation to the major satellite repeats at pericentric heterochromatin.
Chen T, Tsujimoto N, Li E.
Mol Cell Biol. 2004 Oct;24(20):9048-58.
PMID 15456878
A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.
Chen T, Ueda Y, Xie S, Li E.
J Biol Chem. 2002 Oct 11;277(41):38746-54. Epub 2002 Jul 22.
PMID 12138111
TET2 and DNMT3A mutations in human T-cell lymphoma.
Couronne L, Bastard C, Bernard OA.
N Engl J Med. 2012 Jan 5;366(1):95-6. doi: 10.1056/NEJMc1111708.
PMID 22216861
Physical and functional interaction of DNA methyltransferase 3A with Mbd3 and Brg1 in mouse lymphosarcoma cells.
Datta J, Majumder S, Bai S, Ghoshal K, Kutay H, Smith DS, Crabb JW, Jacob ST.
Cancer Res. 2005 Dec 1;65(23):10891-900.
PMID 16322236
DNA methylation signatures identify biologically distinct subtypes in acute myeloid leukemia.
Figueroa ME, Lugthart S, Li Y, Erpelinck-Verschueren C, Deng X, Christos PJ, Schifano E, Booth J, van Putten W, Skrabanek L, Campagne F, Mazumdar M, Greally JM, Valk PJ, Lowenberg B, Delwel R, Melnick A.
Cancer Cell. 2010b Jan 19;17(1):13-27. doi: 10.1016/j.ccr.2009.11.020. Epub 2010 Jan 7.
PMID 20060365
Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.
Fuks F, Burgers WA, Godin N, Kasai M, Kouzarides T.
EMBO J. 2001 May 15;20(10):2536-44.
PMID 11350943
Deletion of the de novo DNA methyltransferase Dnmt3a promotes lung tumor progression.
Gao Q, Steine EJ, Barrasa MI, Hockemeyer D, Pawlak M, Fu D, Reddy S, Bell GW, Jaenisch R.
Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18061-6. doi: 10.1073/pnas.1114946108. Epub 2011 Oct 19.
PMID 22011581
Chromatin targeting of de novo DNA methyltransferases by the PWWP domain.
Ge YZ, Pu MT, Gowher H, Wu HP, Ding JP, Jeltsch A, Xu GL.
J Biol Chem. 2004 Jun 11;279(24):25447-54. Epub 2004 Mar 3.
PMID 14998998
Increased levels of DNA methyltransferases are associated with the tumorigenic capacity of prostate cancer cells.
Gravina GL, Ranieri G, Muzi P, Marampon F, Mancini A, Di Pasquale B, Di Clemente L, Dolo V, D'Alessandro AM, Festuccia C.
Oncol Rep. 2013 Mar;29(3):1189-95. doi: 10.3892/or.2012.2192. Epub 2012 Dec 18.
PMID 23254386
The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL.
Grossmann V, Haferlach C, Weissmann S, Roller A, Schindela S, Poetzinger F, Stadler K, Bellos F, Kern W, Haferlach T, Schnittger S, Kohlmann A.
Genes Chromosomes Cancer. 2013 Apr;52(4):410-22. doi: 10.1002/gcc.22039. Epub 2013 Jan 23.
PMID 23341344
Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice.
Hata K, Okano M, Lei H, Li E.
Development. 2002 Apr;129(8):1983-93.
PMID 11934864
Biochemistry and biology of mammalian DNA methyltransferases.
Hermann A, Gowher H, Jeltsch A.
Cell Mol Life Sci. 2004 Oct;61(19-20):2571-87. (REVIEW)
PMID 15526163
Leukemic mutations in the methylation-associated genes DNMT3A and IDH2 are rare events in pediatric AML: a report from the Children's Oncology Group.
Ho PA, Kutny MA, Alonzo TA, Gerbing RB, Joaquin J, Raimondi SC, Gamis AS, Meshinchi S.
Pediatr Blood Cancer. 2011 Aug;57(2):204-9. doi: 10.1002/pbc.23179. Epub 2011 Apr 18.
PMID 21504050
DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications.
Hou HA, Kuo YY, Liu CY, Chou WC, Lee MC, Chen CY, Lin LI, Tseng MH, Huang CF, Chiang YC, Lee FY, Liu MC, Liu CW, Tang JL, Yao M, Huang SY, Ko BS, Hsu SC, Wu SJ, Tsay W, Chen YC, Tien HF.
Blood. 2012 Jan 12;119(2):559-68. doi: 10.1182/blood-2011-07-369934. Epub 2011 Nov 10.
PMID 22077061
Structure and function of mammalian DNA methyltransferases.
Jurkowska RZ, Jurkowski TP, Jeltsch A.
Chembiochem. 2011 Jan 24;12(2):206-22. doi: 10.1002/cbic.201000195. Epub 2010 Nov 29. (REVIEW)
PMID 21243710
DNMT3A mutations in acute myeloid leukemia.
Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE, Kandoth C, Payton JE, Baty J, Welch J, Harris CC, Lichti CF, Townsend RR, Fulton RS, Dooling DJ, Koboldt DC, Schmidt H, Zhang Q, Osborne JR, Lin L, O'Laughlin M, McMichael JF, Delehaunty KD, McGrath SD, Fulton LA, Magrini VJ, Vickery TL, Hundal J, Cook LL, Conyers JJ, Swift GW, Reed JP, Alldredge PA, Wylie T, Walker J, Kalicki J, Watson MA, Heath S, Shannon WD, Varghese N, Nagarajan R, Westervelt P, Tomasson MH, Link DC, Graubert TA, DiPersio JF, Mardis ER, Wilson RK.
N Engl J Med. 2010 Dec 16;363(25):2424-33. doi: 10.1056/NEJMoa1005143. Epub 2010 Nov 10.
PMID 21067377
Modification of de novo DNA methyltransferase 3a (Dnmt3a) by SUMO-1 modulates its interaction with histone deacetylases (HDACs) and its capacity to repress transcription.
Ling Y, Sankpal UT, Robertson AK, McNally JG, Karpova T, Robertson KD.
Nucleic Acids Res. 2004 Jan 29;32(2):598-610. Print 2004.
PMID 14752048
Epigenetics in AML.
Melnick AM.
Best Pract Res Clin Haematol. 2010 Dec;23(4):463-8. doi: 10.1016/j.beha.2010.09.017. Epub 2010 Nov 1. (REVIEW)
PMID 21130408
DNMT3A mutations and response to the hypomethylating agent decitabine in acute myeloid leukemia.
Metzeler KH, Walker A, Geyer S, Garzon R, Klisovic RB, Bloomfield CD, Blum W, Marcucci G.
Leukemia. 2012 May;26(5):1106-7. doi: 10.1038/leu.2011.342. Epub 2011 Nov 29.
PMID 22124213
Expression of DNA methyltransferases DNMT1, 3A, and 3B in normal hematopoiesis and in acute and chronic myelogenous leukemia.
Mizuno S, Chijiwa T, Okamura T, Akashi K, Fukumaki Y, Niho Y, Sasaki H.
Blood. 2001 Mar 1;97(5):1172-9.
PMID 11222358
DNA methyltransferase expression and DNA methylation in human hepatocellular carcinoma and their clinicopathological correlation.
Oh BK, Kim H, Park HJ, Shim YH, Choi J, Park C, Park YN.
Int J Mol Med. 2007 Jul;20(1):65-73.
PMID 17549390
Transcription factors in myeloid development: balancing differentiation with transformation.
Rosenbauer F, Tenen DG.
Nat Rev Immunol. 2007 Feb;7(2):105-17. (REVIEW)
PMID 17259967
Mutational analysis of therapy-related myelodysplastic syndromes and acute myelogenous leukemia.
Shih AH, Chung SS, Dolezal EK, Zhang SJ, Abdel-Wahab OI, Park CY, Nimer SD, Levine RL, Klimek VM.
Haematologica. 2013 Jun;98(6):908-12. doi: 10.3324/haematol.2012.076729. Epub 2013 Jan 24.
PMID 23349305
DNMT3A mutations in myeloproliferative neoplasms.
Stegelmann F, Bullinger L, Schlenk RF, Paschka P, Griesshammer M, Blersch C, Kuhn S, Schauer S, Dohner H, Dohner K.
Leukemia. 2011 Jul;25(7):1217-9. doi: 10.1038/leu.2011.77. Epub 2011 May 3.
PMID 21537334
DNMT3L stimulates the DNA methylation activity of Dnmt3a and Dnmt3b through a direct interaction.
Suetake I, Shinozaki F, Miyagawa J, Takeshima H, Tajima S.
J Biol Chem. 2004 Jun 25;279(26):27816-23. Epub 2004 Apr 21.
PMID 15105426
De novo DNA methyltransferase is essential for self-renewal, but not for differentiation, in hematopoietic stem cells.
Tadokoro Y, Ema H, Okano M, Li E, Nakauchi H.
J Exp Med. 2007 Apr 16;204(4):715-22. Epub 2007 Apr 9.
PMID 17420264
Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia.
Thol F, Damm F, Ludeking A, Winschel C, Wagner K, Morgan M, Yun H, Gohring G, Schlegelberger B, Hoelzer D, Lubbert M, Kanz L, Fiedler W, Kirchner H, Heil G, Krauter J, Ganser A, Heuser M.
J Clin Oncol. 2011a Jul 20;29(21):2889-96. doi: 10.1200/JCO.2011.35.4894. Epub 2011 Jun 13.
PMID 21670448
DNMT3A mutations are rare in childhood acute myeloid leukemia.
Thol F, Heuser M, Damm F, Klusmann JH, Reinhardt K, Reinhardt D.
Haematologica. 2011b Aug;96(8):1238-40. doi: 10.3324/haematol.2011.046839. Epub 2011 Jun 17.
PMID 21685466
DNA methyltransferase 1 is essential for and uniquely regulates hematopoietic stem and progenitor cells.
Trowbridge JJ, Snow JW, Kim J, Orkin SH.
Cell Stem Cell. 2009 Oct 2;5(4):442-9. doi: 10.1016/j.stem.2009.08.016.
PMID 19796624
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes.
Walter MJ, Ding L, Shen D, Shao J, Grillot M, McLellan M, Fulton R, Schmidt H, Kalicki-Veizer J, O'Laughlin M, Kandoth C, Baty J, Westervelt P, DiPersio JF, Mardis ER, Wilson RK, Ley TJ, Graubert TA.
Leukemia. 2011 Jul;25(7):1153-8. doi: 10.1038/leu.2011.44. Epub 2011 Mar 18.
PMID 21415852
Cloning, expression and chromosome locations of the human DNMT3 gene family.
Xie S, Wang Z, Okano M, Nogami M, Li Y, He WW, Okumura K, Li E.
Gene. 1999 Aug 5;236(1):87-95.
PMID 10433969
Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.
Yan XJ, Xu J, Gu ZH, Pan CM, Lu G, Shen Y, Shi JY, Zhu YM, Tang L, Zhang XW, Liang WX, Mi JQ, Song HD, Li KQ, Chen Z, Chen SJ.
Nat Genet. 2011 Mar 13;43(4):309-15. doi: 10.1038/ng.788.
PMID 21399634
Clinical significance of the expression of DNA methyltransferase proteins in gastric cancer.
Yang J, Wei X, Wu Q, Xu Z, Gu D, Jin Y, Shen Y, Huang H, Fan H, Chen J.
Mol Med Rep. 2011 Nov-Dec;4(6):1139-43. doi: 10.3892/mmr.2011.578. Epub 2011 Aug 31.
PMID 21887466
Association of increased DNA methyltransferase expression with carcinogenesis and poor prognosis in pancreatic ductal adenocarcinoma.
Zhang JJ, Zhu Y, Zhu Y, Wu JL, Liang WB, Zhu R, Xu ZK, Du Q, Miao Y.
Clin Transl Oncol. 2012 Feb;14(2):116-24. doi: 10.1007/s12094-012-0770-x.
PMID 22301400


This paper should be referenced as such :
Kuo, YY ; Li, LY ; Tien, HF
DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(9):589-593.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  Classification of myelodysplastic syndromes 2015
Chronic Myelomonocytic Leukemia (CMML)
Early T-cell precursor acute lymphoblastic leukemia
Follicular lymphomas of germinal center (B- or T-cell) origin
Mixed phenotype acute leukemia (MPAL)
Myelodysplastic syndrome with excess blasts

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;11)(p23;q22) DNMT3A/TRPC6

External links

HGNC (Hugo)DNMT3A   2978
LRG (Locus Reference Genomic)LRG_459
Entrez_Gene (NCBI)DNMT3A  1788  DNA methyltransferase 3 alpha
GeneCards (Weizmann)DNMT3A
Ensembl hg19 (Hinxton)ENSG00000119772 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119772 [Gene_View]  ENSG00000119772 [Sequence]  chr2:25281452-25342590 [Contig_View]  DNMT3A [Vega]
ICGC DataPortalENSG00000119772
Genatlas (Paris)DNMT3A
SOURCE (Princeton)DNMT3A
Genetics Home Reference (NIH)DNMT3A
Genomic and cartography
GoldenPath hg38 (UCSC)DNMT3A  -     chr2:25281452-25342590 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNMT3A  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblDNMT3A - 2p23.3 [CytoView hg19]  DNMT3A - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIDNMT3A [Mapview hg19]  DNMT3A [Mapview hg38]
OMIM602769   615879   
Gene and transcription
Genbank (Entrez)AB208833 AF067972 AF331856 AF480163 AI376254
RefSeq transcript (Entrez)NM_001320892 NM_001320893 NM_022552 NM_153759 NM_175629 NM_175630
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNMT3A
Cluster EST : UnigeneHs.515840 [ NCBI ]
CGAP (NCI)Hs.515840
Alternative Splicing GalleryENSG00000119772
Gene ExpressionDNMT3A [ NCBI-GEO ]   DNMT3A [ EBI - ARRAY_EXPRESS ]   DNMT3A [ SEEK ]   DNMT3A [ MEM ]
Gene Expression Viewer (FireBrowse)DNMT3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1788
GTEX Portal (Tissue expression)DNMT3A
Human Protein AtlasENSG00000119772-DNMT3A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6K1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6K1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6K1
Splice isoforms : SwissVarQ9Y6K1
Catalytic activity : Enzyme2.1.1.37 [ Enzyme-Expasy ] [ IntEnz-EBI ] [ BRENDA ] [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ADD (PS51533)    C5_MTASE_1 (PS00094)    PWWP (PS50812)    SAM_MT_C5 (PS51679)   
Domains : Interpro (EBI)ADD    C5_DNA_meth_AS    C5_MeTfrase    DNMT3A    PWWP_dom    SAM-dependent_MTases   
Domain families : Pfam (Sanger)DNA_methylase (PF00145)    PWWP (PF00855)   
Domain families : Pfam (NCBI)pfam00145    pfam00855   
Domain families : Smart (EMBL)PWWP (SM00293)  
Conserved Domain (NCBI)DNMT3A
DMDM Disease mutations1788
Blocks (Seattle)DNMT3A
PDB (SRS)2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
PDB (PDBSum)2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
PDB (IMB)2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
PDB (RSDB)2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
Structural Biology KnowledgeBase2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
SCOP (Structural Classification of Proteins)2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
CATH (Classification of proteins structures)2QRV    3A1A    3A1B    3LLR    3SVM    4QBQ    4QBR    4QBS    4U7P    4U7T   
Human Protein Atlas [tissue]ENSG00000119772-DNMT3A [tissue]
Peptide AtlasQ9Y6K1
IPIIPI00329216   IPI00893229   IPI00328540   IPI00220006   IPI00893896   
Protein Interaction databases
IntAct (EBI)Q9Y6K1
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  mitotic cell cycle  chromosome, centromeric region  euchromatin  XY body  DNA binding  chromatin binding  DNA (cytosine-5-)-methyltransferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  nuclear heterochromatin  cytoplasm  DNA methylation  methylation-dependent chromatin silencing  regulation of gene expression by genetic imprinting  spermatogenesis  aging  DNA-methyltransferase activity  response to ionizing radiation  response to lead ion  positive regulation of cell death  nuclear matrix  neuron differentiation  response to estradiol  response to vitamin A  response to cocaine  identical protein binding  DNA methylation involved in embryo development  DNA methylation involved in gamete generation  negative regulation of gene expression, epigenetic  metal ion binding  cellular response to amino acid stimulus  cellular response to ethanol  cellular response to hypoxia  C-5 methylation of cytosine  hepatocyte apoptotic process  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  mitotic cell cycle  chromosome, centromeric region  euchromatin  XY body  DNA binding  chromatin binding  DNA (cytosine-5-)-methyltransferase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  nuclear heterochromatin  cytoplasm  DNA methylation  methylation-dependent chromatin silencing  regulation of gene expression by genetic imprinting  spermatogenesis  aging  DNA-methyltransferase activity  response to ionizing radiation  response to lead ion  positive regulation of cell death  nuclear matrix  neuron differentiation  response to estradiol  response to vitamin A  response to cocaine  identical protein binding  DNA methylation involved in embryo development  DNA methylation involved in gamete generation  negative regulation of gene expression, epigenetic  metal ion binding  cellular response to amino acid stimulus  cellular response to ethanol  cellular response to hypoxia  C-5 methylation of cytosine  hepatocyte apoptotic process  
Pathways : KEGGMethionine metabolism   
REACTOMEQ9Y6K1 [protein]
REACTOME PathwaysR-HSA-5334118 [pathway]   
NDEx NetworkDNMT3A
Atlas of Cancer Signalling NetworkDNMT3A
Wikipedia pathwaysDNMT3A
Orthology - Evolution
GeneTree (enSembl)ENSG00000119772
Phylogenetic Trees/Animal Genes : TreeFamDNMT3A
Homologs : HomoloGeneDNMT3A
Homology/Alignments : Family Browser (UCSC)DNMT3A
Gene fusions - Rearrangements
Fusion : MitelmanDNMT3A/TRPC6 [2p23.3/11q22.1]  
Fusion : QuiverDNMT3A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNMT3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNMT3A
Exome Variant ServerDNMT3A
ExAC (Exome Aggregation Consortium)ENSG00000119772
GNOMAD BrowserENSG00000119772
Genetic variants : HAPMAP1788
Genomic Variants (DGV)DNMT3A [DGVbeta]
DECIPHERDNMT3A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNMT3A 
ICGC Data PortalDNMT3A 
TCGA Data PortalDNMT3A 
Broad Tumor PortalDNMT3A
OASIS PortalDNMT3A [ Somatic mutations - Copy number]
Cancer Gene: CensusDNMT3A 
Somatic Mutations in Cancer : COSMICDNMT3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNMT3A
intOGen PortalDNMT3A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DNMT3A
DgiDB (Drug Gene Interaction Database)DNMT3A
DoCM (Curated mutations)DNMT3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNMT3A (select a term)
NCG5 (London)DNMT3A
Cancer3DDNMT3A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM602769    615879   
Genetic Testing Registry DNMT3A
NextProtQ9Y6K1 [Medical]
Target ValidationDNMT3A
Huge Navigator DNMT3A [HugePedia]
snp3D : Map Gene to Disease1788
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1788
Chemical/Pharm GKB GenePA27445
Clinical trialDNMT3A
canSAR (ICR)DNMT3A (select the gene name)
Other database
PubMed340 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 16 09:46:15 CEST 2018

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