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DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
MBD2 (Methyl-CpG Binding Domain Protein 2) is a Protein Coding gene. Diseases associated with MBD2 include Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant and Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Gene Expression. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein domain specific binding. An important paralog of this gene is MBD3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding | HDA | 16217013 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO:0003696 | satellite DNA binding | TAS | 9774669 |
GO:0003729 | mRNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000118 | histone deacetylase complex | IEA | -- |
GO:0000785 | chromatin | IEA | -- |
GO:0000790 | nuclear chromatin | IDA | 23770133 |
GO:0000792 | heterochromatin | IEA | -- |
GO:0005634 | nucleus | TAS,NAS | 10441743 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Macrophage Differentiation and Growth Inhibition by METS |
DNA Methylation and Transcriptional Repression
.30
|
|
3 | Gene Expression |
.48
|
|
4 | Development NOTCH1-mediated pathway for NF-KB activity modulation |
Transcription Sin3 and NuRD in transcription regulation
.31
|
|
5 | Signaling events mediated by HDAC Class I |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI | 23770133 |
GO:0000183 | chromatin silencing at rDNA | TAS | -- |
GO:0006346 | methylation-dependent chromatin silencing | IGI | 23770133 |
GO:0007507 | heart development | IEA | -- |
GO:0007568 | aging | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MBD2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MBD2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MBD2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MBD2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mbd2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mbd2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MBD2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MBD2 30 |
|
||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | MBD2 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21615 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mbd2 30 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | MBD-like 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003982 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
779981 | Benign: not provided | 54,164,588(-) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3422299 | CNV | insertion | 20981092 |
esv993042 | CNV | deletion | 20482838 |
nsv1072267 | CNV | deletion | 25765185 |
nsv1121952 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant |
|
|
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
|
|
klatskin's tumor |
|
|
rett syndrome |
|
|
tetralogy of fallot |
|
|