MBD4 Gene Summary [Human]

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

Details

Type
Protein Coding
Official Symbol
MBD4
Official Name
methyl-CpG binding domain 4, DNA glycosylase [Source:HGNC Symbol;Acc:HGNC:6919]
Ensembl ID
ENSG00000129071
Bio databases IDs NCBI: 8930 Ensembl: ENSG00000129071
Aliases methyl-CpG binding domain 4, DNA glycosylase
Synonyms LOC679015, MED1, methyl-CpG binding domain 4 DNA glycosylase, methyl-CpG binding domain 4, DNA glycosylase, methyl-CpG binding domain protein 4, TPDS2, UVM1
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 MBD4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • HhH-GPD superfamily base excision DNA repair protein
  • pyrimidine-specific mismatch base pair DNA N-glycosylase
  • ENDO3c
  • DNA N-glycosylase
  • satellite DNA binding
  • endonuclease
  • enzyme
  • protein binding
  • MBD
  • DNA binding

Pathways

Biological processes and signaling networks where the MBD4 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
  • cancer
  • head and neck cancer
  • head and neck neoplasia
  • familial melanoma cancer
  • melanoma cancer
  • hereditary cancer
  • hereditary cancer-predisposing syndrome
  • familial neoplasia
  • ocular melanoma
  • eye cancer
regulated by
regulates
role in cell
  • survival
  • G2/M phase
  • apoptosis
  • cell death
  • function
  • transcription in
  • DNA damage response
  • demethylation in
  • G2/M phase transition

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
  • Cytoplasm
  • nuclear foci
  • nucleoplasm
  • nuclear speckles
  • chromatin
  • heterochromatic compartments

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MBD4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • response to estradiol stimulus
  • depyrimidination

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nuclear speck
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • protein binding
  • pyrimidine-specific mismatch base pair DNA N-glycosylase activity
  • DNA N-glycosylase activity
  • endodeoxyribonuclease activity
  • satellite DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.