Version 5.4
Homo sapiens Gene: DNMT3B
Summary
InnateDB Gene IDBG-65401.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNMT3B
Gene Name DNA (cytosine-5-)-methyltransferase 3 beta
Synonyms ICF; ICF1; M.HsaIIIB
Species Homo sapiens
Ensembl Gene ENSG00000088305
Encoded Proteins
IDBP-65403
DNA (cytosine-5-)-methyltransferase 3 beta
IDBP-65405
DNA (cytosine-5-)-methyltransferase 3 beta
IDBP-65409
DNA (cytosine-5-)-methyltransferase 3 beta
IDBP-65417
DNA (cytosine-5-)-methyltransferase 3 beta
IDBP-371353
DNA (cytosine-5-)-methyltransferase 3 beta
IDBP-371354
DNA (cytosine-5-)-methyltransferase 3 beta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:32762385-32809356
Strand Forward strand
Band q11.21
Transcripts
ENST00000328111 ENSP00000328547
ENST00000353855 ENSP00000313397
ENST00000348286 ENSP00000337764
ENST00000201963 ENSP00000201963
ENST00000456297 ENSP00000412305
ENST00000443239 ENSP00000403169
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 110 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 110 [view]
Protein-Protein 106 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0003886 DNA (cytosine-5-)-methyltransferase activity
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0009008 DNA-methyltransferase activity
GO:0045322 unmethylated CpG binding
GO:0046872 metal ion binding
GO:0051718 DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006306 DNA methylation
GO:0006346 methylation-dependent chromatin silencing
GO:0006349 regulation of gene expression by genetic imprinting
GO:0010212 response to ionizing radiation
GO:0010424 DNA methylation on cytosine within a CG sequence
GO:0010628 positive regulation of gene expression
GO:0031503 protein complex localization
GO:0042493 response to drug
GO:0043045 DNA methylation involved in embryo development
GO:0045666 positive regulation of neuron differentiation
GO:0045814 negative regulation of gene expression, epigenetic
GO:0045892 negative regulation of transcription, DNA-templated
GO:0046498 S-adenosylhomocysteine metabolic process
GO:0046499 S-adenosylmethioninamine metabolic process
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0051573 negative regulation of histone H3-K9 methylation
GO:0071230 cellular response to amino acid stimulus
Cellular Component
GO:0000775 chromosome, centromeric region
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005720 nuclear heterochromatin
GO:0005737 cytoplasm
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027478
View Gene Order
ENSBTAG00000003901
Not yet available
Pathways
NETPATH
REACTOME
REACT_200808
PRC2 methylates histones and DNA pathway
REACT_200857
Epigenetic regulation of gene expression pathway
REACT_200856
NoRC negatively regulates rRNA expression pathway
REACT_267652
DNA methylation pathway
REACT_71
Gene Expression pathway
REACT_200834
Negative epigenetic regulation of rRNA expression pathway
KEGG
hsa00270
Cysteine and methionine metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.643024
RefSeq NM_001207055 NM_001207056 NM_006892 NM_175848 NM_175849 NM_175850
HUGO
OMIM
CCDS CCDS13204 CCDS13205 CCDS13206 CCDS13207 CCDS56183 CCDS56184
HPRD 04209
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca