MBD5 Chromosome 2
Methyl-CpG binding domain protein 5
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What This Gene Does
This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Methyl-CpG binding domain containing|PWWP domain containing"
Locus Type
gene with protein product
Location
2q23.1
Ensembl
ENSG00000204406
Associated Conditions (14)
Intellectual disability
autosomal dominant 1
See cases
Inborn genetic diseases
MBD5-related disorder
MBD5 associated neurodevelopmental disorder
Bilateral tonic-clonic seizure
developmental delay with intractable seizures
Gastric cancer
Cleft palate
Seizure
Chromosome 2q23.1 deletion syndrome
Microcephaly
Autism spectrum disorder
Key Variants
RS1024254683
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, See cases
Health Risk
RS1057520996
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Intellectual disability
Health Risk
RS1057522537
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 1
Health Risk
RS1060501152
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Intellectual disability
Health Risk
RS112334672
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Inborn genetic diseases
Health Risk
RS115145637
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Intellectual disability
Health Risk
RS116207524
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Intellectual disability
Health Risk
RS1165120864
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 1
Health Risk
RS1227323118
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Inborn genetic diseases
Health Risk
RS1246420113
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Inborn genetic diseases
Health Risk
RS1250224277
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Inborn genetic diseases
Health Risk
RS1258991767
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 1, Inborn genetic diseases
Health Risk
All Variants (236)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105622677 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105625178 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105630210 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105633124 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105633619 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105635449 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105639771 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2105642195 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469777382 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469778085 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2469778111 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469808157 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469808233 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469819703 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469855647 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469860236 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469995857 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2469995885 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Inborn genetic diseases |
| RS2469997179 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2470029448 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2470030083 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2470030380 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2470031181 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2470031191 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS2470031704 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS398122412 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS766179352 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS794727928 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS796052719 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS878910680 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, See cases |
| RS886041003 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS978179634 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS1057524832 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |
| RS1553518509 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Autism spectrum disorder, Intellectual disability |
| RS1553518593 | Health Risk | Pathogenic/Likely pathogenic | MBD5 associated neurodevelopmental disorder, MBD5 associated neurodevelopmental disorder |
| RS2469778064 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 1, Intellectual disability |