MBD6 (Methyl-CpG Binding Domain Protein 6)
A reader of methylated DNA involved in chromatin remodeling and gene regulation.
Gene Information Card
| Symbol | MBD6 |
|---|---|
| Full Name | Methyl-CpG Binding Domain Protein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 114785 ncbi.nlm.nih.gov/gene/114785 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9BQG0 |
| OMIM ID | 611596 |
| HGNC ID | 16264 |
| Aliases | MBD6, KIAA1887 |
Description
MBD6 encodes a member of the methyl-CpG-binding domain (MBD) family. The protein specifically binds to methylated DNA and is involved in chromatin remodeling and transcriptional repression. It interacts with the NuRD complex and plays a role in regulating gene expression, particularly in the context of development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered MBD6 expression may disrupt DNA methylation-mediated gene silencing, contributing to tumorigenesis. | PubMed, COSMIC |
| Intellectual disability | Mutations in MBD6 have been associated with neurodevelopmental phenotypes in rare cases. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 10.5 | Medium |
| Lung | 6.8 | Low |
| Liver | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.5 | Leukemia cells |
| MCF7 | 6.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of MBD6 function, potentially impairing DNA methylation reading and chromatin regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • methyl-CpG binding (GO:0008327) |
| • nucleus (GO:0005634) | • chromatin remodeling (GO:0006338) |
| • negative regulation of transcription by RNA polymerase II (GO:0000122) |
Pathways
• Chromatin organization
• DNA methylation and transcriptional repression
• NuRD complex pathway
Protein Summary
MBD6 is a 1003-amino acid protein containing a methyl-CpG-binding domain (MBD) at the N-terminus. It localizes to the nucleus and binds specifically to methylated CpG dinucleotides. Through interactions with chromatin remodeling complexes such as NuRD, MBD6 contributes to transcriptional repression and maintenance of heterochromatin. Its expression is enriched in testis and brain, and dysregulation is implicated in cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD6 Knockout HEK293 Cell Line | EDJ-KQ7458 | Human | 114785 | Details Get a Quote |
| MBD6 Knockout A-549 Cell Line | EDJ-KQ32674 | Human | 114785 | Details Get a Quote |
| MBD6 Knockout HCT 116 Cell Line | EDJ-KQ32675 | Human | 114785 | Details Get a Quote |
| MBD6 Knockout HeLa Cell Line | EDJ-KQ32676 | Human | 114785 | Details Get a Quote |
