DNMT3B Back

DNA (cytosine-5-)-methyltransferase 3 beta

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NCBI Description of DNMT3B
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.

Community Annotation of DNMT3B Add / Edit DNMT3B: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

DNMT3B is highly significantly mutated in
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DNMT3B is significantly mutated in
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DNMT3B is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for DNMT3B