DNA (cytosine-5-)-methyltransferase 3 beta

Symbol

DNMT3B (may also be known as: None)

Organism

Human

Description

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. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

Orthologs

SymbolSpecies
dnmt4 Danio rerio
Dnmt3b Mus musculus
Dnmt3b Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3101 Gene expression of DNMT3B increases with age Molecular skin Human DNMT3B —

GO Terms

GO IDGO TermGO Category
GO:0000122 negative regulation of transcription from RNA polymerase II promoter biological_process
GO:0006306 DNA methylation biological_process
GO:0006346 methylation-dependent chromatin silencing biological_process
GO:0006349 regulation of gene expression by genetic imprinting biological_process
GO:0010212 response to ionizing radiation biological_process
GO:0010424 DNA methylation on cytosine within a CG sequence biological_process
GO:0010628 positive regulation of gene expression biological_process
GO:0031503 protein complex localization biological_process
GO:0042493 response to drug biological_process
GO:0043045 DNA methylation involved in embryo development biological_process
GO:0045666 positive regulation of neuron differentiation biological_process
GO:0045814 negative regulation of gene expression, epigenetic biological_process
GO:0046498 S-adenosylhomocysteine metabolic process biological_process
GO:0046499 S-adenosylmethioninamine metabolic process biological_process
GO:0051571 positive regulation of histone H3-K4 methylation biological_process
GO:0051573 negative regulation of histone H3-K9 methylation biological_process
GO:0071230 cellular response to amino acid stimulus biological_process
GO:0090116 C-5 methylation of cytosine biological_process
GO:0000775 chromosome, centromeric region cellular_component
GO:0005634 nucleus cellular_component
GO:0005720 nuclear heterochromatin cellular_component
GO:0005730 nucleolus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0043231 intracellular membrane-bounded organelle cellular_component
GO:0003677 DNA binding molecular_function
GO:0003714 transcription corepressor activity molecular_function
GO:0003886 DNA (cytosine-5-)-methyltransferase activity molecular_function
GO:0005515 protein binding molecular_function
GO:0009008 DNA-methyltransferase activity molecular_function
GO:0016740 transferase activity molecular_function
GO:0045322 unmethylated CpG binding molecular_function
GO:0046872 metal ion binding molecular_function
GO:0051718 DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates molecular_function