MBD5
Gene Information
- Official Symbol: MBD5
- Official Name: methyl-CpG binding domain protein 5
- Aliases and Previous Symbols: N/A
- Entrez ID: 55777
- UniProt: Q9P267
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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. [provided by RefSeq, Jul 2017].
- UniProt Summary: Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 9738
- Expression level (log2 read counts): 3.89
MBD5 Expression in NALM6 Cells: 3.89
