MBD3L5 Gene - Methyl-CpG Binding Domain Protein 3 Like 5
A member of the methyl-CpG binding domain protein family, potentially involved in epigenetic regulation and transcriptional repression.
Gene Information Card
| Symbol | MBD3L5 |
|---|---|
| Full Name | Methyl-CpG binding domain protein 3 like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 220164 ncbi.nlm.nih.gov/gene/220164 |
| Ensembl ID | ENSG00000188010 |
| UniProt ID | Q6P1X6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:28300 |
| Aliases | MBD3L5, MBD3-like protein 5 |
Description
MBD3L5 (Methyl-CpG Binding Domain Protein 3 Like 5) 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 reading DNA methylation marks and recruiting chromatin remodeling complexes to regulate gene expression. MBD3L5 shares sequence similarity with MBD3, a core component of the NuRD (Nucleosome Remodeling and Deacetylase) complex, and may play a role in transcriptional repression. However, its specific functions and interactions are not fully characterized, and it is considered a poorly studied member of the family.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| No specific disease association | Not established | No curated disease association found in OMIM or ClinVar as of the last update. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 8.2 | Low |
| Thyroid | 5.1 | Low |
| Adrenal gland | 4.3 | Low |
| Other tissues | <3.0 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HEK 293 | 2.5 | Low expression |
| HeLa | 1.8 | Very low |
| K562 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| No clinically significant variants reported | N/A | N/A | No pathogenic or likely pathogenic variants curated in ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in MBD3L5 associated with disease.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • regulation of transcription (GO:0006355) |
Pathways
• No specific pathways curated for MBD3L5 in major databases.
Protein Summary
The MBD3L5 protein is predicted to contain a methyl-CpG binding domain (MBD) that can bind symmetrically methylated CpG dinucleotides. It may interact with histone deacetylase complexes, similar to other MBD family members, to mediate transcriptional repression. However, experimental validation is limited, and its precise biological role remains to be elucidated. The protein is predicted to be nuclear and may be involved in chromatin organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBD3L5 Knockout HEK293 Cell Line | EDJ-KQ13420 | Human | 284428 | Details Get a Quote |
| MBD3L5 Knockout HeLa Cell Line | EDJ-KQ59469 | Human | 284428 | Details Get a Quote |
| MBD3L5 Knockout A-549 Cell Line | EDJ-KQ67932 | Human | 284428 | Details Get a Quote |
| MBD3L5 Knockout HCT 116 Cell Line | EDJ-KQ76314 | Human | 284428 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
