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MBD3 (methyl-CpG binding domain protein 3)

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.
miRTarBase ID miRNA Experiments Reference
MIRT022788 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT037081 hsa-miR-877-3p CLASH 23622248
MIRT625053 hsa-miR-508-5p HITS-CLIP 23824327
MIRT625052 hsa-miR-1288-5p HITS-CLIP 23824327
MIRT625051 hsa-miR-1273g-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin HDA 16217013
GO:0000792 Component Heterochromatin IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003677 Function DNA binding TAS 9774669
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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.
 
KEGG
 
Reactome
  ATP-dependent chromatin remodeling   HDACs deacetylate histones
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
Regulation of PTEN gene transcription
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

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