DNMT3B

DNA (cytosine-5-)-methyltransferase 3 beta
PDB rendering based on 1khc.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1khc​
Identifiers
Symbols	DNMT3B ; ICF; M.HsaIIIB
External IDs	Template:OMIM5 Template:MGI HomoloGene: 56000
EC number	2.1.1.37
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

DNA (cytosine-5-)-methyltransferase 3 beta, also known as DNMT3B, is a protein associated with immunodeficiency, centromere instability and facial anomalies syndrome.

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.

Further reading

• Wijmenga C, Hansen RS, Gimelli G; et al. (2001). "Genetic variation in ICF syndrome: evidence for genetic heterogeneity". Hum. Mutat. 16 (6): 509–17. doi:10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V. PMID 11102980.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Okano M, Xie S, Li E (1998). "Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases". Nat. Genet. 19 (3): 219–20. doi:10.1038/890. PMID 9662389.CS1 maint: Multiple names: authors list (link)
• Robertson KD, Uzvolgyi E, Liang G; et al. (1999). "The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors". Nucleic Acids Res. 27 (11): 2291–8. PMID 10325416.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xie S, Wang Z, Okano M; et al. (1999). "Cloning, expression and chromosome locations of the human DNMT3 gene family". Gene. 236 (1): 87–95. PMID 10433969.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Okano M, Bell DW, Haber DA, Li E (1999). "DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development". Cell. 99 (3): 247–57. PMID 10555141.CS1 maint: Multiple names: authors list (link)
• Hansen RS, Wijmenga C, Luo P; et al. (2000). "The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome". Proc. Natl. Acad. Sci. U.S.A. 96 (25): 14412–7. PMID 10588719.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xu GL, Bestor TH, Bourc'his D; et al. (2000). "Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene". Nature. 402 (6758): 187–91. doi:10.1038/46052. PMID 10647011.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.CS1 maint: Multiple names: authors list (link)
• Fuks F, Burgers WA, Godin N; et al. (2001). "Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription". EMBO J. 20 (10): 2536–44. doi:10.1093/emboj/20.10.2536. PMID 11350943.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kang ES, Park CW, Chung JH (2002). "Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1". Biochem. Biophys. Res. Commun. 289 (4): 862–8. doi:10.1006/bbrc.2001.6057. PMID 11735126.CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rhee I, Bachman KE, Park BH; et al. (2002). "DNMT1 and DNMT3b cooperate to silence genes in human cancer cells". Nature. 416 (6880): 552–6. doi:10.1038/416552a. PMID 11932749.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hata K, Okano M, Lei H, Li E (2002). "Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice". Development. 129 (8): 1983–93. PMID 11934864.CS1 maint: Multiple names: authors list (link)
• Beaulieu N, Morin S, Chute IC; et al. (2002). "An essential role for DNA methyltransferase DNMT3B in cancer cell survival". J. Biol. Chem. 277 (31): 28176–81. doi:10.1074/jbc.M204734200. PMID 12015329.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Saito Y, Kanai Y, Sakamoto M; et al. (2002). "Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis". Proc. Natl. Acad. Sci. U.S.A. 99 (15): 10060–5. doi:10.1073/pnas.152121799. PMID 12110732.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kim GD, Ni J, Kelesoglu N; et al. (2002). "Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases". EMBO J. 21 (15): 4183–95. PMID 12145218.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deplus R, Brenner C, Burgers WA; et al. (2002). "Dnmt3L is a transcriptional repressor that recruits histone deacetylase". Nucleic Acids Res. 30 (17): 3831–8. PMID 12202768.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shen H, Wang L, Spitz MR; et al. (2002). "A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer". Cancer Res. 62 (17): 4992–5. PMID 12208751.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shirohzu H, Kubota T, Kumazawa A; et al. (2003). "Three novel DNMT3B mutations in Japanese patients with ICF syndrome". Am. J. Med. Genet. 112 (1): 31–7. doi:10.1002/ajmg.10658. PMID 12239717.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• DNMT3b at the US National Library of Medicine Medical Subject Headings (MeSH)
• EC 2.1.1.37