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DNA (cytosine-5-)-methyltransferase 3 beta (HGNC Symbol)
Entrez gene summary
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]
Q9UBC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 3B
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Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000792 [heterochromatin] GO:0001666 [response to hypoxia] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003714 [transcription corepressor activity] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005720 [nuclear heterochromatin] GO:0005737 [cytoplasm] GO:0006306 [DNA methylation] GO:0006346 [methylation-dependent chromatin silencing] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0009636 [response to toxic substance] GO:0010212 [response to ionizing radiation] GO:0010424 [DNA methylation on cytosine within a CG sequence] GO:0010467 [gene expression] GO:0010628 [positive regulation of gene expression] GO:0014823 [response to activity] GO:0031000 [response to caffeine] GO:0031503 [protein complex localization] GO:0032355 [response to estradiol] GO:0032776 [DNA methylation on cytosine] GO:0033189 [response to vitamin A] GO:0040029 [regulation of gene expression, epigenetic] GO:0042220 [response to cocaine] GO:0042493 [response to drug] GO:0042826 [histone deacetylase binding] GO:0043231 [intracellular membrane-bounded organelle] GO:0045322 [unmethylated CpG binding] GO:0045666 [positive regulation of neuron differentiation] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0046498 [S-adenosylhomocysteine metabolic process] GO:0046499 [S-adenosylmethioninamine metabolic process] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0051718 [DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates] GO:0060821 [inactivation of X chromosome by DNA methylation] GO:0071230 [cellular response to amino acid stimulus] GO:0071455 [cellular response to hyperoxia] GO:0071549 [cellular response to dexamethasone stimulus] GO:0090116 [C-5 methylation of cytosine]
Q9UBC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 3B
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006306 [DNA methylation] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0010628 [positive regulation of gene expression] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0043231 [intracellular membrane-bounded organelle] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0090116 [C-5 methylation of cytosine]
Q9UBC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 3B
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006306 [DNA methylation] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0010628 [positive regulation of gene expression] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0043231 [intracellular membrane-bounded organelle] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0090116 [C-5 methylation of cytosine]
Q9UBC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 3B
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006306 [DNA methylation] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0010628 [positive regulation of gene expression] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0043231 [intracellular membrane-bounded organelle] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0090116 [C-5 methylation of cytosine]
Q9UBC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 3B
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006306 [DNA methylation] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0010628 [positive regulation of gene expression] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0043231 [intracellular membrane-bounded organelle] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0090116 [C-5 methylation of cytosine]
Q9UBC3 [Direct mapping] DNA (cytosine-5)-methyltransferase 3B
Show all
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0003714 [transcription corepressor activity] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006306 [DNA methylation] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0010628 [positive regulation of gene expression] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0043231 [intracellular membrane-bounded organelle] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0051571 [positive regulation of histone H3-K4 methylation] GO:0051573 [negative regulation of histone H3-K9 methylation] GO:0090116 [C-5 methylation of cytosine]