MBD3L2: Methyl-CpG Binding Domain Protein 3 Like 2
A potential epigenetic regulator with limited functional characterization
Gene Information Card
| Symbol | MBD3L2 |
|---|---|
| Full Name | Methyl-CpG Binding Domain Protein 3 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 125997 ncbi.nlm.nih.gov/gene/125997 |
| Ensembl ID | ENSG00000188283 |
| UniProt ID | Q6P9B9 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:23242 |
| Aliases | MBD3L, MBD3L2, MGC26733 |
Description
MBD3L2 is a protein-coding gene that belongs to the methyl-CpG binding domain (MBD) family. The encoded protein contains a methyl-CpG binding domain and may be involved in epigenetic regulation of gene expression through recognition of methylated DNA. Its specific biological functions remain incompletely characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.4 | Low |
| Brain | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • methyl-CpG binding (GO:0008327) |
| • nucleus (GO:0005634) |
Protein Summary
MBD3L2 is a 289-amino acid protein containing a conserved methyl-CpG binding domain (MBD). It is predicted to localize to the nucleus and bind methylated DNA, potentially modulating chromatin structure and gene expression. Its exact role in cellular processes remains to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD3L2 Knockout HEK293 Cell Line | EDJ-KQ8078 | Human | 125997 | Details Get a Quote |
| MBD3L2B Knockout HEK293 Cell Line | EDJ-KQ14207 | Human | 729458 | Details Get a Quote |
| MBD3L2 Knockout HeLa Cell Line | EDJ-KQ58162 | Human | 125997 | Details Get a Quote |
| MBD3L2 Knockout A-549 Cell Line | EDJ-KQ66647 | Human | 125997 | Details Get a Quote |
| MBD3L2 Knockout HCT 116 Cell Line | EDJ-KQ75067 | Human | 125997 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
