MBD3 (methyl-CpG binding domain protein 3)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 53615 |
| Gene name | Methyl-CpG binding domain protein 3 |
| Gene symbol | MBD3 |
| Synonyms (NCBI Gene) |
-
|
| Chromosome | 19 |
| Chromosome location | 19p13.3 |
| Summary | DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encod |
|
miRNA
miRNA information provided by mirtarbase database.
504
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
O95983 | ||||||||||||||||||||
| Protein name | Methyl-CpG-binding domain protein 3 (Methyl-CpG-binding protein MBD3) | ||||||||||||||||||||
| Protein function | Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:12124384, PubMed:16428440, PubMed:28977666). Acts as transcriptional repressor and plays a role in gene silencing (PubMed:10947 | ||||||||||||||||||||
| PDB | 2MB7 , 6CC8 , 6CCG , 6CEU , 6CEV | ||||||||||||||||||||
| Family and domains |
Pfam
|
||||||||||||||||||||
| Sequence |
|
||||||||||||||||||||
| Sequence length | 291 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
|
|||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||
|
|||||||||||||||||||||
|
Related Genes
Genes most often co-reported with MBD3 across shared curated disease and pathway associations.
5
|
|
|
Diseases Linked via Similar Genes
Diseases curated for genes most similar to MBD3 (see Related Genes above), that are NOT already directly curated for MBD3 itself -- a lead worth checking, not a confirmed association.
5
|
|