MBD2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
MBD2
Official Name
methyl-CpG binding domain protein 2 [Source:HGNC Symbol;Acc:HGNC:6917]
Ensembl ID
ENSG00000134046
Bio databases IDs NCBI: 8932 Ensembl: ENSG00000134046
Aliases methyl-CpG binding domain protein 2
Synonyms DMTase, LOC684150, MBD2a, methyl-CpG binding domain protein 2, NY-CO-41
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MBD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • mRNA binding
  • chromatin binding
  • coiled-coil domain
  • protein domain specific binding
  • protein binding
  • identical protein binding
  • C-terminal domain of methyl-CpG binding protein 2 and 3
  • DNA binding
  • RNA binding
  • Arg-Gly dipeptide repeat domain
  • satellite DNA binding
  • methyl-CpG binding
  • p55-binding region of Methyl-CpG-binding domain proteins MBD
  • glycine arginine rich domain
  • MBD

Pathways

Biological processes and signaling networks where the MBD2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • gastric cancer
  • glioblastoma
  • COVID-19
  • metastasis
  • chronic kidney disease
  • glioblastoma cancer
  • systemic juvenile idiopathic arthritis
regulated by
regulates
role in cell
  • expression in
  • proliferation
  • differentiation
  • invasion
  • remodeling
  • migration
  • growth
  • invasion by
  • silencing in
  • methylation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • heterochromatin
  • Cytoplasm
  • cytosol
  • nucleoplasm
  • nucleoli
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MBD2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • macromolecular complex assembly
  • embryonic organ development
  • regulation of cell proliferation
  • maternal behavior
  • response to mechanical stimulus
  • methylation-dependent chromatin silencing
  • negative regulation of transcription from RNA polymerase II promoter
  • chromatin remodeling
  • ventricular cardiac muscle tissue development
  • negative regulation of transcription, DNA-dependent
  • positive regulation of transcription, DNA-dependent
  • response to estradiol stimulus
  • Wnt receptor signaling pathway
  • positive regulation of Wnt receptor signaling pathway
  • cellular response to organic cyclic compound
  • response to nutrient levels

Cellular Component

Where in the cell the gene product is active
  • heterochromatin
  • nucleus
  • NuRD complex
  • cytosol
  • macromolecular complex
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein domain specific binding
  • protein binding
  • siRNA binding
  • nucleosomal DNA binding
  • C2H2 zinc finger domain binding
  • mRNA binding
  • methyl-CpG binding
  • satellite DNA binding
  • binding, bridging

Gene-Specific Assays for Results You Can Trust

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