MBD2

Chr 18

methyl-CpG binding domain protein 2

Also known as: DMTase, NY-CO-41

NCBI Gene: 8932 ENSG00000134046 UniProt: Q9UBB5

MBD2 encodes a methyl-CpG-binding domain protein that binds to methylated DNA and functions as a transcriptional repressor by recruiting histone deacetylases and chromatin remodeling complexes. The gene has a LOEUF score of 0.522, indicating moderate constraint against loss-of-function variants, but no well-established Mendelian disorders have been definitively linked to MBD2 mutations in current clinical practice. MBD2 is part of the methyl-CpG-binding protein family that regulates gene expression through DNA methylation-dependent mechanisms.

ResearchSummary from RefSeq, UniProt

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.52

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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