Homo sapiens Gene: DNMT3A
Summary
InnateDB Gene IDBG-34441.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNMT3A
Gene Name DNA (cytosine-5-)-methyltransferase 3 alpha
Synonyms DNMT3A2; M.HsaIIIA; TBRS;
Species Homo sapiens
Ensembl Gene ENSG00000119772
Encoded Proteins
DNA (cytosine-5-)-methyltransferase 3 alpha
DNA (cytosine-5-)-methyltransferase 3 alpha
DNA (cytosine-5-)-methyltransferase 3 alpha
DNA (cytosine-5-)-methyltransferase 3 alpha
DNA (cytosine-5-)-methyltransferase 3 alpha
DNA (cytosine-5-)-methyltransferase 3 alpha
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 that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:25227855-25342590
Strand Reverse strand
Band p23.3
Transcripts
ENST00000321117 ENSP00000324375
ENST00000380756 ENSP00000370132
ENST00000264709 ENSP00000264709
ENST00000380746 ENSP00000370122
ENST00000402667 ENSP00000384237
ENST00000406659 ENSP00000384852
ENST00000474887
ENST00000482935
ENST00000491288
ENST00000466601
ENST00000461228
ENST00000474807
ENST00000484184
ENST00000470983
ENST00000496570
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 90 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 90 [view]
Protein-Protein 86 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003886 DNA (cytosine-5-)-methyltransferase activity
GO:0005515 protein binding
GO:0008168 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:0007283 spermatogenesis
GO:0010424 DNA methylation on cytosine within a CG sequence
GO:0043045 DNA methylation involved in embryo development
GO:0043046 DNA methylation involved in gamete generation
GO:0044027 hypermethylation of CpG island
GO:0046498 S-adenosylhomocysteine metabolic process
GO:0046499 S-adenosylmethioninamine metabolic process
GO:0071230 cellular response to amino acid stimulus
GO:0090116 C-5 methylation of cytosine
Cellular Component
GO:0000775 chromosome, centromeric region
GO:0000791 euchromatin
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005720 nuclear heterochromatin
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
PRC2 methylates histones and DNA pathway
Epigenetic regulation of gene expression pathway
DNA methylation pathway
Chromatin organization pathway
RMTs methylate histone arginines pathway
Chromatin modifying enzymes pathway
Gene Expression pathway
KEGG
Cysteine and methionine metabolism pathway
INOH
PID BIOCARTA
PID NCI
Validated targets of C-MYC transcriptional repression
Cross-References
SwissProt
TrEMBL F8WE91 Q59HC6
UniProt Splice Variant
Entrez Gene 1788
UniGene Hs.515840 Hs.602553
RefSeq NM_022552 NM_175629 NM_153759 NM_175630 XM_006711957 XM_005264177 XM_006711958 XM_005264176 XM_005264175
HUGO HGNC:2978
OMIM 602769
CCDS CCDS33157 CCDS1718 CCDS46232
HPRD 04141
IMGT
EMBL AB208833 AC012074
GenPept BAD92070
RNA Seq Atlas 1788