MBD5: Methyl-CpG-Binding Domain Protein 5
A key epigenetic regulator implicated in neurodevelopmental disorders and cancer
Gene Information Card
| Symbol | MBD5 |
|---|---|
| Full Name | methyl-CpG-binding domain protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q23.1 |
| NCBI Gene ID | 55777 ncbi.nlm.nih.gov/gene/55777 |
| Ensembl ID | ENSG00000104427 |
| UniProt ID | Q9P267 |
| OMIM ID | 611472 |
| HGNC ID | 20444 |
| Aliases | KIAA1461, MBD5_HUMAN |
Description
The MBD5 gene encodes a member of the methyl-CpG-binding domain (MBD) protein family. MBD5 is involved in epigenetic regulation, chromatin remodeling, and transcriptional repression. It is highly expressed in the brain and plays a critical role in neuronal development and function. Haploinsufficiency or loss-of-function mutations in MBD5 are associated with autosomal dominant intellectual disability, autism spectrum disorder, and epilepsy (MBD5 haploinsufficiency syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MBD5 haploinsufficiency syndrome (autosomal dominant intellectual disability, autism, epilepsy) | Haploinsufficiency due to deletion or loss-of-function mutation of one MBD5 allele leads to reduced protein dosage, disrupting chromatin-mediated gene regulation in neurons. | ClinVar, OMIM #611472 |
| Autism spectrum disorder | De novo missense and truncating MBD5 variants impair neuronal gene expression programs, contributing to ASD pathogenesis. | ClinVar, NCBI PubMed |
| Epilepsy (generalized tonic-clonic seizures) | MBD5 loss-of-function alters synaptic gene expression, increasing neuronal excitability. | ClinVar, OMIM #611472 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 10.8 | High |
| Testis | 6.2 | Medium |
| Heart | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used for neuronal studies |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HeLa (cervical carcinoma) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss-of-function; premature stop codon leading to nonsense-mediated decay |
| c.567_570del (p.Glu189Aspfs*3) | Frameshift deletion | Rare | Loss-of-function; truncated protein |
| c.890G>A (p.Arg297Gln) | Missense | Rare | Likely loss-of-function; disrupts methyl-CpG-binding domain |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to nonsense, frameshift, or deletion variants is the primary mechanism in MBD5-related neurodevelopmental disorders.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MBD5.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • methyl-CpG binding (GO:0008327) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • regulation of transcription (GO:0006355) | • chromatin organization (GO:0006325) |
Pathways
• Epigenetic regulation of gene expression
• Chromatin remodeling
Protein Summary
MBD5 is a 1494-amino acid nuclear protein containing a methyl-CpG-binding domain (MBD) at the N-terminus. It binds methylated CpG dinucleotides and recruits chromatin-modifying complexes to repress transcription. MBD5 is essential for normal brain development; its deficiency leads to altered expression of genes involved in synaptic function and neuronal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD5 Knockout HEK293 Cell Line | EDJ-KQ14211 | Human | 55777 | Details Get a Quote |
| MBD5 Knockout A-549 Cell Line | EDJ-KQ44165 | Human | 55777 | Details Get a Quote |
| MBD5 Knockout HCT 116 Cell Line | EDJ-KQ44166 | Human | 55777 | Details Get a Quote |
| MBD5 Knockout HeLa Cell Line | EDJ-KQ44167 | Human | 55777 | Details Get a Quote |
