Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MBD5 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID55777
Official gene symbolMBD5
Full namemethyl-CpG binding domain protein 5
Aliases,FLJ11113,FLJ30517,KIAA1461,MRD1,
Gene summaryThis 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 mental retardation autosomal dominant type 1. 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]
LocationChromosome: 2   Locus: 2q23.1
Gene position148778580 - 149271046  Map Viewer
Gene orientationplus
Gene size492467 bp
Gene sequence
OMIM ID611472