Property Summary

NCBI Gene PubMed Count 23
PubMed Score 121.32
PubTator Score 57.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 2.000 5.1e-07
osteosarcoma -1.702 3.9e-03
atypical teratoid / rhabdoid tumor -1.300 3.6e-04
glioblastoma -1.400 4.4e-04
medulloblastoma, large-cell -1.400 8.3e-04
tuberculosis and treatment for 3 months 1.100 1.5e-03
pituitary cancer 1.300 2.2e-05

 GO Function (1)

Gene RIF (13)

PMID Text
25966365 Reduced MBD5 dosage leads to mRNA and microRNA expression patterns and DNA methylation patterns more characteristic of differentiating than proliferating neural stem cells. This balance change may underlie neurodevelopmental disorders.
25853262 Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development.
25271084 Circadian rhythm gene expression altered by haploinsufficiency of MBD5.
24885232 A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
24634419 We studied and showed that both MBD5 and MBD6 interact with the mammalian PR-DUB Polycomb protein complex in a mutually exclusive manner, and that the MBD of MBD5 and MBD6 is both necessary and sufficient to mediate this interaction.
23632792 The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development.
23587880 study demonstrates that haploinsufficiency of MBD5 causes diverse phenotypes, yields insight into the spectrum of resulting neurodevelopmental and behavioral psychopathology and provides clinical context for interpretation of MBD5 structural variations.
23422940 Identified de novo intragenic deletions of MBD5 in three patients.
23055267 MBD5 was tied to neurodevelopmental disorders following the identification of microdeletions on chromosome 2q22-2q23.
21981781 MBD5 is a single causal locus as shown by 2q23.1 microdeletion syndrome with roles in intellectual disability, epilepsy, and autism spectrum disorder
21271666 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
20700456 MBD5 and MBD6 are unlikely to be methyl-binding proteins, yet they may contribute to the formation or function of heterochromatin.
19904302 Haploinsufficiency of MBD5 is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.(

AA Sequence

MNGGKECDGGDKEGGLPAIQVPVGWQRRVDQNGVLYVSPSGSLLSCLEQVKTYLLTDGTCKCGLECPLIL      1 - 70
PKVFNFDPGAAVKQRTAEDVKADEDVTKLCIHKRKIIAVATLHKSMEAPHPSLVLTSPGGGTNATPVVPS     71 - 140
RAATPRSVRNKSHEGITNSVMPECKNPFKLMIGSSNAMGRLYVQELPGSQQQELHPVYPRQRLGSSEHGQ    141 - 210
KSPFRGSHGGLPSPASSGSQIYGDGSISPRTDPLGSPDVFTRSNPGFHGAPNSSPIHLNRTPLSPPSVML    211 - 280
HGSPVQSSCAMAGRTNIPLSPTLTTKSPVMKKPMCNFSTNMEIPRAMFHHKPPQGPPPPPPPSCALQKKP    281 - 350
LTSEKDPLGILDPIPSKPVNQNPVIINPTSFHSNVHSQVPMMNVSMPPAVVPLPSNLPLPTVKPGHMNHG    351 - 420
SHVQRVQHSASTSLSPSPVTSPVHMMGTGIGRIEASPQRSRSSSTSSDHGNFMMPPVGPQATSSGIKVPP    421 - 490
RSPRSTIGSPRPSMPSSPSTKSDGHHQYKDIPNPLIAGISNVLNTPSSAAFPTASAGSSSVKSQPGLLGM    491 - 560
PLNQILNQHNAASFPASSLLSAAAKAQLANQNKLAGNNSSSSSNSGAVAGSGNTEGHSTLNTMFPPTANM    561 - 630
LLPTGEGQSGRAALRDKLMSQQKDALRKRKQPPTTVLSLLRQSQMDSSAVPKPGPDLLRKQGQGSFPISS    631 - 700
MSQLLQSMSCQSSHLSSNSTPGCGASNTALPCSANQLHFTDPSMNSSVLQNIPLRGEAVHCHNANTNFVH    701 - 770
SNSPVPNHHLAGLINQIQASGNCGMLSQSGMALGNSLHPNPPQSRISTSSTPVIPNSIVSSYNQTSSEAG    771 - 840
GSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHFPSNSTSNNHL    841 - 910
PHPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQMFPPNQ    911 - 980
QQQQLLQGYQNLQAFQGQSTIPCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLP    981 - 1050
PFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKAVVDAASKGMQVVITTAVNSTTQISPIPAL   1051 - 1120
SAMSAFTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDGFEYFKSASC   1121 - 1190
HTSKKQWDGEQSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKIL   1191 - 1260
EENFRYNNYKRTMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLV   1261 - 1330
KDYIHYNGDFNAKSVNGCVPSPSDAKSISSEDDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWP   1331 - 1400
GKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRVRKRNRKSGKLNNHLEAAIHEAMSELDKMSG   1401 - 1470
TVHQIPQGDRQMRPPKPKRRKISR                                                 1471 - 1494
//

Text Mined References (24)

PMID Year Title
25966365 2015 A molecular model for neurodevelopmental disorders.
25853262 2015 Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
25271084 2015 MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
24885232 2014 A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
24634419 2014 MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.
23632792 2014 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
23587880 2014 Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
23422940 2013 Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
23055267 2012 The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21981781 2011 Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
21271666 2011 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
20700456 2010 The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.
19904302 2010 Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12529184 2003 Comparative study of methyl-CpG-binding domain proteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
10819331 2000 Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.