Version 5.4
Homo sapiens Gene: MBD5
Summary
InnateDB Gene IDBG-71831.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBD5
Gene Name methyl-CpG binding domain protein 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000204406
Encoded Proteins
IDBP-294093
methyl-CpG binding domain protein 5
IDBP-294092
methyl-CpG binding domain protein 5
IDBP-386361
methyl-CpG binding domain protein 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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 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, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:148021011-148518236
Strand Forward strand
Band q23.1
Transcripts
ENST00000407073 ENSP00000386049
ENST00000404807 ENSP00000384672
ENST00000416015 ENSP00000393168
ENST00000488372
ENST00000496158
ENST00000478190
ENST00000473478
ENST00000470063
ENST00000469438
ENST00000478804
ENST00000496893
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
Biological Process
GO:0007399 nervous system development
GO:0040014 regulation of multicellular organism growth
GO:0042593 glucose homeostasis
GO:0044708 single-organism behavior
GO:0060399 positive regulation of growth hormone receptor signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0010369 chromocenter
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000036792
View Gene Order
ENSBTAG00000019592
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.435792 Hs.458312 Hs.604917
RefSeq NM_018328 XM_005263711 XM_005263712
HUGO
OMIM
CCDS CCDS33302
HPRD 11295
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca