MBD3L4 Gene: Methyl-CpG-Binding Domain Protein 3 Like 4
A comprehensive biomedical overview of MBD3L4, including genomic context, expression, and functional annotations.
Gene Information Card
| Symbol | MBD3L4 |
|---|---|
| Full Name | Methyl-CpG-binding domain protein 3 like 4 |
| Gene Type | protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 643849 ncbi.nlm.nih.gov/gene/643849 |
| Ensembl ID | ENSG00000205372 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:28282 |
| Aliases | MBD3L4, MBD3-like protein 4 |
Description
MBD3L4 (Methyl-CpG-binding domain protein 3 like 4) is a protein-coding gene located on chromosome 19p13.2. It belongs to the methyl-CpG-binding domain (MBD) protein family, which is involved in epigenetic regulation, particularly in reading DNA methylation marks. The gene is expressed in various tissues, with notable expression in the testis and some cancer cell lines. Its exact biological function is not fully characterized, but it is predicted to play a role in transcriptional regulation or chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from curated databases (ClinVar, OMIM, COSMIC) as of the latest update. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Moderate expression (based on RNA-seq data from GTEx, not directly from nTPM values) |
| Thyroid | Not available | Low expression |
| Skin | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Detected in some cancer cell lines (e.g., HeLa) based on EST data |
| K562 | Not available | Low expression |
| MCF7 | Not available | Detected in breast cancer cell lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not reported | No functional effect documented |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in MBD3L4 has been reported in curated databases.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MBD3L4 has been reported.
Dominant Negative (DN)
No evidence of dominant-negative mutations in MBD3L4 has been reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • chromatin binding (GO:0003682) |
| • nucleus (GO:0005634) |
Pathways
• No specific pathways are curated for MBD3L4 in major pathway databases (e.g.
• Reactome
• KEGG).
Protein Summary
The MBD3L4 protein (UniProt A6NKF9) is predicted to contain a methyl-CpG-binding domain, which is characteristic of proteins that bind to methylated DNA. It is likely localized to the nucleus and may participate in epigenetic regulation. However, its precise molecular function and interacting partners remain to be experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD3L4 Knockout HEK293 Cell Line | EDJ-KQ14209 | Human | 653656 | Details Get a Quote |
| MBD3L4 Knockout HeLa Cell Line | EDJ-KQ60659 | Human | 653656 | Details Get a Quote |
| MBD3L4 Knockout A-549 Cell Line | EDJ-KQ69132 | Human | 653656 | Details Get a Quote |
| MBD3L4 Knockout HCT 116 Cell Line | EDJ-KQ77484 | Human | 653656 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
