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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) Band 2q23.1 Start 148,021,011 bp End 148,516,971 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 C1.1 Start 48,949,508 bp End 49,325,405 bp
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
Wikidata
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Methyl-CpG binding domain protein 5 is a protein that in humans is encoded by the MBD5 gene.

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 involving microcephaly, intellectual disabilities, severe speech impairment, and seizures . Alternatively spliced transcript variants have been found, but their full-length nature is not determined. .

See also

• Ciliopathy

References

1. ^ GRCh38: Ensembl release 89: ENSG00000204406 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000036792 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Methyl-CpG binding domain protein 5". Retrieved 2018-07-25.
6. Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, et al. (July 2012). "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability". American Journal of Human Genetics. 91 (1): 73–82. doi:10.1016/j.ajhg.2012.05.003. PMC 3397275. PMID 22726846.

Further reading

• Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, et al. (April 2010). "Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures". European Journal of Human Genetics. 18 (4): 436–441. doi:10.1038/ejhg.2009.199. PMC 2987257. PMID 19904302.
• Laget S, Joulie M, Le Masson F, Sasai N, Christians E, Pradhan S, et al. (August 2010). "The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA". PLOS ONE. 5 (8): e11982. Bibcode:2010PLoSO...511982L. doi:10.1371/journal.pone.0011982. PMC 2917364. PMID 20700456.
• Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G (February 2011). "2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features". American Journal of Medical Genetics. Part A. 155A (2): 424–429. doi:10.1002/ajmg.a.33821. PMID 21271666. S2CID 20787929.
• Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, et al. (October 2011). "Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder". American Journal of Human Genetics. 89 (4): 551–563. doi:10.1016/j.ajhg.2011.09.011. PMC 3188839. PMID 21981781.
• Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, et al. (December 2012). "The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1". Autism Research. 5 (6): 385–397. doi:10.1002/aur.1251. PMC 3528798. PMID 23055267.
• Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, et al. (December 2013). "Extended spectrum of MBD5 mutations in neurodevelopmental disorders". European Journal of Human Genetics. 21 (12): 1457–1461. doi:10.1038/ejhg.2013.22. PMC 3831065. PMID 23422940.
• Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, et al. (March 2014). "Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities". Molecular Psychiatry. 19 (3): 368–379. doi:10.1038/mp.2013.42. PMC 4756476. PMID 23587880.
• Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, et al. (January 2014). "Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder". European Journal of Human Genetics. 22 (1): 57–63. doi:10.1038/ejhg.2013.67. PMC 3865402. PMID 23632792.
• Baymaz HI, Fournier A, Laget S, Ji Z, Jansen PW, Smits AH, et al. (October 2014). "MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain". Proteomics. 14 (19): 2179–2189. doi:10.1002/pmic.201400013. hdl:2066/135396. PMID 24634419. S2CID 21919011.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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