Mbd4 Gene Summary [Mouse]
Enables DNA binding activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage; mitotic G2 DNA damage checkpoint signaling; and response to radiation. Located in chromatin; cytoplasm; and nucleus. Is expressed in several structures, including central nervous system; lower urogenital tract; reproductive system; retina; and urethra epithelium. Human ortholog(s) of this gene implicated in colorectal carcinoma; esophagus squamous cell carcinoma; lung cancer; rheumatoid arthritis; and uveal melanoma. Orthologous to human MBD4 (methyl-CpG binding domain 4, DNA glycosylase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mbd4 |
| Official Name | methyl-CpG binding domain protein 4 [Source:MGI Symbol;Acc:MGI:1333850] |
| Ensembl ID | ENSMUSG00000030322 |
| Bio databases IDs | |
| Aliases | methyl-CpG binding domain protein 4 |
| 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 | Mouse, Mus musculus |
| Orthologies |
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 mouse 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 mouse 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
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 mouse 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