Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
53615 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Methyl-CpG binding domain protein 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MBD3 |
SynonymsGene synonyms aliases
|
- |
ChromosomeChromosome number
|
19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
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
Accession |
ID |
Position in sequence |
Description |
Type |
PF01429 |
MBD |
1 → 72 |
Methyl-CpG binding domain |
Domain |
PF16564 |
MBDa |
79 → 148 |
p55-binding region of Methyl-CpG-binding domain proteins MBD |
Domain |
PF14048 |
MBD_C |
152 → 243 |
C-terminal domain of methyl-CpG binding protein 2 and 3 |
Family |
|
Sequence |
|
Sequence length |
291 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Autism |
Autistic Disorder |
rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 |
19921286 |
|