MBD2
Chr 18methyl-CpG binding domain protein 2
Also known as: DMTase, NY-CO-41
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
119 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 50 | 0 | 50 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 48 | 3 | 0 | 51 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 48 | 55 | 1 | 104 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MBD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools