MBD3 (Methyl-CpG Binding Domain Protein 3)
A core component of the NuRD chromatin remodeling complex involved in transcriptional repression and DNA methylation interpretation.
Gene Information Card
| Symbol | MBD3 |
|---|---|
| Full Name | Methyl-CpG Binding Domain Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 53615 ncbi.nlm.nih.gov/gene/53615 |
| Ensembl ID | ENSG00000167548 |
| UniProt ID | O95983 |
| OMIM ID | 603573 |
| HGNC ID | 6918 |
| Aliases | MBD3, MBD3A, MBD3B |
Description
MBD3 encodes a member of the methyl-CpG-binding domain (MBD) protein family. It is a core component of the nucleosome remodeling and deacetylase (NuRD) complex, which mediates transcriptional repression through histone deacetylase activity and ATP-dependent chromatin remodeling. Unlike other MBD proteins, MBD3 does not bind methylated DNA directly but interacts with the NuRD complex via other subunits. MBD3 is essential for embryonic development and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MBD3 mutations or altered expression disrupt NuRD complex function, leading to aberrant gene silencing or activation, promoting tumorigenesis. | COSMIC, ClinVar |
| Developmental disorders | Loss-of-function mutations in MBD3 impair NuRD-mediated chromatin remodeling, affecting gene regulation during embryogenesis. | OMIM, ClinVar |
| Intellectual disability | Rare MBD3 variants have been associated with neurodevelopmental phenotypes, possibly due to altered NuRD activity in neurons. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| K562 | 7.3 | Leukemia cells |
| HepG2 | 6.8 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.256C>T (p.Arg86Trp) | Missense | <0.1% | Alters MBD domain, reduced NuRD interaction |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.1% | Disrupts protein stability |
| c.631C>T (p.Arg211*) | Nonsense | <0.1% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the MBD domain lead to loss of NuRD complex integrity and transcriptional repression.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for MBD3.
Dominant Negative (DN)
Missense mutations in the MBD domain may produce a dominant-negative effect by sequestering NuRD components into non-functional complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NuRD complex-mediated transcriptional repression
• Chromatin remodeling
• DNA methylation-dependent gene silencing
Protein Summary
MBD3 is a 285-amino acid protein containing a methyl-CpG-binding domain (MBD) at the N-terminus, though it does not bind methylated DNA. It serves as a scaffold within the NuRD complex, interacting with MTA2, HDAC1/2, and CHD3/4. MBD3 is ubiquitously expressed and localizes to the nucleus. Its function is critical for maintaining proper chromatin states during development and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD3L2 Knockout HEK293 Cell Line | EDJ-KQ8078 | Human | 125997 | Details Get a Quote |
| MBD3L1 Knockout HEK293 Cell Line | EDJ-KQ9649 | Human | 85509 | Details Get a Quote |
| MBD3 Knockout HEK293 Cell Line | EDJ-KQ11348 | Human | 53615 | Details Get a Quote |
| MBD3L5 Knockout HEK293 Cell Line | EDJ-KQ13420 | Human | 284428 | Details Get a Quote |
| MBD3L2B Knockout HEK293 Cell Line | EDJ-KQ14207 | Human | 729458 | Details Get a Quote |
| MBD3L3 Knockout HEK293 Cell Line | EDJ-KQ14208 | Human | 653657 | Details Get a Quote |
| MBD3L4 Knockout HEK293 Cell Line | EDJ-KQ14209 | Human | 653656 | Details Get a Quote |
| MBD3 Knockout HeLa Cell Line | EDJ-KQ38190 | Human | 53615 | Details Get a Quote |
| MBD3 Knockout A-549 Cell Line | EDJ-KQ39518 | Human | 53615 | Details Get a Quote |
| MBD3 Knockout HCT 116 Cell Line | EDJ-KQ39519 | Human | 53615 | Details Get a Quote |
| MBD3L1 Knockout HeLa Cell Line | EDJ-KQ57730 | Human | 85509 | Details Get a Quote |
| MBD3L2 Knockout HeLa Cell Line | EDJ-KQ58162 | Human | 125997 | Details Get a Quote |
| MBD3L5 Knockout HeLa Cell Line | EDJ-KQ59469 | Human | 284428 | Details Get a Quote |
| MBD3L4 Knockout HeLa Cell Line | EDJ-KQ60659 | Human | 653656 | Details Get a Quote |
| MBD3L3 Knockout HeLa Cell Line | EDJ-KQ60660 | Human | 653657 | Details Get a Quote |
Displaying Records 1 To 15 Of 25 Records
