Methyl-cpg binding domain protein 5

Methyl-CpG binding domain protein 5 is a protein that in humans is encoded by the MBD5 gene. ^[5]

MBD5
Identifiers
Aliases	MBD5, MRD1, methyl-CpG binding domain protein 5
External IDs	OMIM: 611472; MGI: 2138934; HomoloGene: 81861; GeneCards: MBD5; OMA:MBD5 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q23.1 Start 148,021,011 bp[1] End 148,516,971 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 C1.1 Start 48,949,508 bp[2] End 49,325,405 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon sural nerve epithelium of colon muscle layer of sigmoid colon corpus callosum left testis stromal cell of endometrium right testis granulocyte left ovary Top expressed in zygote tail of embryo genital tubercle Rostral migratory stream dentate gyrus of hippocampal formation granule cell secondary oocyte lateral septal nucleus neural layer of retina otolith organ nucleus accumbens More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding chromatin binding Cellular component chromocenter extracellular exosome nucleus chromosome nucleoplasm midbody Biological process positive regulation of growth hormone receptor signaling pathway glucose homeostasis nervous system development regulation of multicellular organism growth protein deubiquitination behavior regulation of behavior Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55777 109241 Ensembl ENSG00000204406 ENSMUSG00000036792 UniProt Q9P267 B1AYB6 RefSeq (mRNA) NM_018328 NM_001290656 NM_029924 RefSeq (protein) NP_060798 NP_001365049 NP_001277585 NP_084200 Location (UCSC) Chr 2: 148.02 – 148.52 Mb Chr 2: 48.95 – 49.33 Mb PubMed search [3] [4]
Wikidata
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Function

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 variety of Kleefstra syndrome^[6] 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].

See also

• Ciliopathy