DNMT3B

DNA (cytosine-5)-methyltransferase 3 beta, is an enzyme that in humans in encoded by the DNMT3B gene.^[5] Mutation in this gene are associated with immunodeficiency, centromere instability and facial anomalies syndrome.^[6]

DNMT3B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3QKJ, 3FLG, 5CIU
Identifiers
Aliases	DNMT3B, ICF, ICF1, M.HsaIIIB, DNA (cytosine-5-)-methyltransferase 3 beta, DNA methyltransferase 3 beta, FSHD4
External IDs	OMIM: 602900; MGI: 1261819; HomoloGene: 56000; GeneCards: DNMT3B; OMA:DNMT3B - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q11.21 Start 32,762,385 bp[1] End 32,809,356 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H1 Start 153,491,370 bp[2] End 153,529,650 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte hair follicle sperm embryo gonad testicle ganglionic eminence body of pancreas ventricular zone corpus epididymis Top expressed in epiblast primitive streak embryo pelvic part of vagina paramesonephric duct epithelium of vagina ejaculatory duct tail of embryo abdominal wall embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity DNA binding transcription corepressor activity DNA-methyltransferase activity chromatin binding metal ion binding protein binding DNA (cytosine-5-)-methyltransferase activity DNA-binding transcription factor activity, RNA polymerase II-specific histone deacetylase binding Cellular component cytoplasm intracellular membrane-bounded organelle nucleoplasm nucleus Biological process response to ionizing radiation C-5 methylation of cytosine response to estradiol response to hypoxia cellular response to hyperoxia negative regulation of transcription by RNA polymerase II response to activity cellular response to dexamethasone stimulus response to vitamin A DNA methylation methylation positive regulation of gene expression negative regulation of gene expression, epigenetic positive regulation of histone H3-K4 methylation positive regulation of neuron differentiation negative regulation of histone H3-K9 methylation regulation of gene expression response to caffeine response to toxic substance response to cocaine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1789 13436 Ensembl ENSG00000088305 ENSMUSG00000027478 UniProt Q9UBC3 O88509 RefSeq (mRNA) NM_001207055 NM_001207056 NM_006892 NM_175848 NM_175849 NM_175850 NM_001003960 NM_001003961 NM_001003963 NM_001122997 NM_001271744 NM_001271745 NM_001271746 NM_001271747 NM_010068 RefSeq (protein) NP_001193984 NP_001193985 NP_008823 NP_787044 NP_787045 NP_787046 NP_001003960 NP_001003961 NP_001003963 NP_001116469 NP_001258673 NP_001258674 NP_001258675 NP_001258676 NP_034198 Location (UCSC) Chr 20: 32.76 – 32.81 Mb Chr 2: 153.49 – 153.53 Mb PubMed search [3] [4]
Wikidata
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Function

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.^[5]

Clinical significance

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in lymphocyte maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene.^[6]

Variants of the gene can also contribute to nicotine dependency.^[7]

Interactions

DNMT3B has been shown to interact with:

• CBX5,^[8]
• DNMT1,^[8][9]
• DNMT3A,^[8][9][10]
• KIF4A,^[11]
• NCAPG,^[11]
• SMC2,^[11]
• SUMO1^[12] and
• UBE2I.^[12]