MBD2 (methyl-CpG binding domain protein 2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 8932
Gene name Methyl-CpG binding domain protein 2
Gene symbol MBD2
Synonyms (NCBI Gene)
DMTaseNY-CO-41
Chromosome 18
Chromosome location 18q21.2
Summary 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.
454 Show/Hide all (454)
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miRTarBase ID miRNA Experiments Reference
MIRT006021 hsa-miR-373-3p Luciferase reporter assayqRT-PCRWestern blot 21086164
MIRT006021 hsa-miR-373-3p Luciferase reporter assayqRT-PCRWestern blot 21086164
MIRT006021 hsa-miR-373-3p Luciferase reporter assayqRT-PCRWestern blot 21086164
MIRT019870 hsa-miR-375 Microarray 20215506
MIRT437392 hsa-miR-221-5p ChIP-seqIn situ hybridizationLuciferase reporter assayMicroarrayqRT-PCRWestern blot 23770133
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
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Transcription factor Regulation Reference
DNMT1 Repression 15618232
HINFP Repression 11553631
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58 Show/Hide all (58)
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
603547 6917 ENSG00000134046
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF14048 MBD_C 296 → 387 C-terminal domain of methyl-CpG binding protein 2 and 3 Family
PF16564 MBDa 223 → 292 p55-binding region of Methyl-CpG-binding domain proteins MBD Domain
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.
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KEGG Pathway Reactome Pathway
ATP-dependent chromatin remodeling NoRC negatively regulates rRNA expression
  RNA Polymerase I Promoter Opening
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (16)
Phenotype Name Clinical Significance Source Reference Evidence Score
BENIGN PROSTATIC HYPERPLASIA — GWAS catalog 30988330
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 38154582
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNEAL EDEMA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER — GWAS catalog 36379924
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog 38154582
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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CDH13 2 shared diseasesBenign prostatic hyperplasia, Periodontitis 2 shared evidence sourcesGWAS catalog (Benign prostatic hyperplasia), GWAS catalog (Periodontitis) Related via 2 shared diseases including Benign prostatic hyperplasia, Periodontitis — evidence mostly GWAS catalog. HLA-DOA 1 shared diseasePeriodontitis 2 shared evidence sourcesGWAS catalog (Periodontitis), CTD (Prostate cancer) Related via 1 shared disease including Periodontitis — evidence mostly GWAS catalog. H2AJ 3 shared pathwaysATP-dependent chromatin remodeling, NoRC negatively regulates rRNA expression, RNA Polymerase I Promoter Opening Related via 3 shared pathways including ATP-dependent chromatin remodeling, NoRC negatively regulates rRNA expression. H2AZ2 3 shared pathwaysATP-dependent chromatin remodeling, NoRC negatively regulates rRNA expression, RNA Polymerase I Promoter Opening Related via 3 shared pathways including ATP-dependent chromatin remodeling, NoRC negatively regulates rRNA expression. H2AZ1 3 shared pathwaysATP-dependent chromatin remodeling, NoRC negatively regulates rRNA expression, RNA Polymerase I Promoter Opening Related via 3 shared pathways including ATP-dependent chromatin remodeling, NoRC negatively regulates rRNA expression.
Hypothyroidism Linked via 2 of 5 related genesCDH13, HLA-DOA Autism Linked via 2 of 5 related genesHLA-DOA, H2AZ2 Alzheimer disease Linked via 1 of 5 related genesCDH13 Amphetamine or sympathomimetic abuse Linked via 1 of 5 related genesCDH13 Eczema Linked via 1 of 5 related genesCDH13