Methyl-cpg binding domain protein 5

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
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 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].

Further reading

• Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH (April 2010). "Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures". Eur. J. Hum. Genet. 18 (4): 436–41. doi:10.1038/ejhg.2009.199. PMC 2987257. PMID 19904302.
• Laget S, Joulie M, Le Masson F, Sasai N, Christians E, Pradhan S, Roberts RJ, Defossez PA (August 2010). "The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA". PLoS ONE. 5 (8): e11982. 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". Am. J. Med. Genet. A. 155A (2): 424–9. doi:10.1002/ajmg.a.33821. PMID 21271666.
• Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH (October 2011). "Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder". Am. J. Hum. Genet. 89 (4): 551–63. doi:10.1016/j.ajhg.2011.09.011. PMC 3188839. PMID 21981781.
• Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR (December 2012). "The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1". Autism Res. 5 (6): 385–97. doi:10.1002/aur.1251. PMC 3528798. PMID 23055267.
• Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P (December 2013). "Extended spectrum of MBD5 mutations in neurodevelopmental disorders". Eur. J. Hum. Genet. 21 (12): 1457–61. doi:10.1038/ejhg.2013.22. PMC 3831065. PMID 23422940.
• Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME (March 2014). "Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities". Mol. Psychiatry. 19 (3): 368–79. doi:10.1038/mp.2013.42. PMC 4756476. PMID 23587880.
• Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH (January 2014). "Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder". Eur. J. Hum. Genet. 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, Ferry L, Mensinga A, Poser I, Sharrocks A, Defossez PA, Vermeulen M (October 2014). "MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain". Proteomics. 14 (19): 2179–89. doi:10.1002/pmic.201400013. PMID 24634419.

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