Gene: MBD5

Alternate names for this Gene: MRD1

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q23.1

Description of this Gene: methyl-CpG binding domain protein 5

Type of Gene: protein-coding

rs1015096 in MBD5 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs1553518509 in MBD5 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs1377454 in MBD5 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10928378 in MBD5 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1015096 in MBD5 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs139953766 in MBD5 gene and Mental Retardation, Autosomal Dominant 1 PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

PMID 23422940 2013 Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

PMID 23587880 2014 Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

rs1553518509 in MBD5 gene and Multiple congenital anomalies PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27514998 2016 Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

PMID 17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 23422940 2013 Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

PMID 21981781 2011 Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

PMID 23632792 2014 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

PMID 23587880 2014 Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

PMID 26147564 2015 Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

rs1234413 in MBD5 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.