MBD2 (methyl-CpG binding domain protein 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8932
Gene name Gene Name - the full gene name approved by the HGNC.
Methyl-CpG binding domain protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MBD2
Synonyms (NCBI Gene) Gene synonyms aliases
DMTase, NY-CO-41
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG bi
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(454)
miRTarBase ID miRNA Experiments Reference
MIRT006021 hsa-miR-373-3p Luciferase reporter assay, qRT-PCR, Western blot 21086164
MIRT006021 hsa-miR-373-3p Luciferase reporter assay, qRT-PCR, Western blot 21086164
MIRT006021 hsa-miR-373-3p Luciferase reporter assay, qRT-PCR, Western blot 21086164
MIRT019870 hsa-miR-375 Microarray 20215506
MIRT437392 hsa-miR-221-5p ChIP-seq, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23770133
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
DNMT1 Repression 15618232
HINFP Repression 11553631
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(58)
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IGI 23770133
GO:0000785 Component Chromatin HDA 16217013
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603547 6917 ENSG00000134046
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UBB5
Protein name Methyl-CpG-binding domain protein 2 (Demethylase) (DMTase) (Methyl-CpG-binding protein MBD2)
Protein function Binds CpG islands in promoters where the DNA is methylated at position 5 of cytosine within CpG dinucleotides (PubMed:9774669). Binds hemimethylated DNA as well (PubMed:10947852, PubMed:24307175). Recruits histone deacetylases and DNA methyltran
PDB 2L2L , 6C1A , 6C1T , 6C1U , 6C1V , 6C2F , 6CNP , 6CNQ , 7AO8 , 7AO9 , 7AOA , 7MWK , 7MWM , 7RAY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01429 MBD 146 → 216 Methyl-CpG binding domain Domain
PF16564 MBDa 223 → 292 p55-binding region of Methyl-CpG-binding domain proteins MBD Domain
PF14048 MBD_C 296 → 387 C-terminal domain of methyl-CpG binding protein 2 and 3 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, heart, kidney, stomach, testis and placenta. {ECO:0000269|PubMed:10050851}.
Sequence 
MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAPSPVSGVRREGARGGGRG
RGRWKQAGRGGGVCGRGRGRGRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGG
APRREPVPFPSGSAGPGPRGPRATESGKRMDCPALPPGWKKEEVIRKSGLSAGKSDVYYF
SPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRLRNDPLNQNKGKPDLN
TTLPIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQII
KTMELPKGLQGVGPGSNDETLLSAVASALHTSSAPITGQVSAAVEKNPAVWLNTSQPLCK
AFIVTDEDIRKQEERVQQVRKKLEEALMADILSRAADTEEMDIEMDSGDEA
Sequence length 411
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ATP-dependent chromatin remodeling   NoRC negatively regulates rRNA expression
RNA Polymerase I Promoter Opening
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Benign Prostatic Hyperplasia Benign prostatic hyperplasia N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (42)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 30735628
Alzheimer Disease Associate 19117641
Aortic Aneurysm Abdominal Associate 31001930
Autistic Disorder Associate 19921286
Breast Neoplasms Associate 16168120, 16322686, 22258532, 23755158, 24204564, 24927503, 25178277
Carcinogenesis Inhibit 24338710
Carcinoma Endometrioid Associate 11471858
Carcinoma Hepatocellular Associate 11960994, 27315121
Carcinoma Large Cell Inhibit 11710831
Carcinoma Non Small Cell Lung Associate 18414412