Mbd5 Gene Summary [Mouse]
Predicted to enable chromatin binding activity. Acts upstream of or within glucose homeostasis; positive regulation of growth hormone receptor signaling pathway; and regulation of growth. Predicted to be located in midbody and nucleoplasm. Predicted to be active in chromocenter and nucleus. Is expressed in several structures, including brain; liver; small intestine; spinal cord; and spleen. Used to study autosomal dominant intellectual developmental disorder. Human ortholog(s) of this gene implicated in autism spectrum disorder and autosomal dominant intellectual developmental disorder 1. Orthologous to human MBD5 (methyl-CpG binding domain protein 5). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mbd5 |
| Official Name | methyl-CpG binding domain protein 5 [Source:MGI Symbol;Acc:MGI:2138934] |
| Ensembl ID | ENSMUSG00000036792 |
| Bio databases IDs | |
| Aliases | methyl-CpG binding domain protein 5 |
| Synonyms | 9430004D19RIK, AI426407, C030040A15RIK, C2DELq23.1, DEL2Q23.1, Gm1630, KIAA1461, LOC100041508, methyl-CpG binding domain protein 5, MRD1 |
| 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 Mbd5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PWWP domain
- PWWP (Pro-Trp-Trp-Pro) domain
- chromatin binding
- protein binding
- MBD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoglycemia
- schizophrenia
- autosomal dominant mental retardation type 1
- mental retardation
- neuroticism
- preeclampsia
- pervasive developmental disorder
- complex neurodevelopmental disorder
- hereditary disorder
- atrial fibrillation
regulated by
- CCND1
- HDL/cholesterol
- dihydrotestosterone
role in cell
- differentiation
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
- midbody
- chromosome
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mbd5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of behavior
- regulation of multicellular organism growth
- positive regulation of growth hormone receptor signaling pathway
- glucose homeostasis
- nervous system development
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- chromocenter
- midbody
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- chromatin binding