Expression of DNMT3A in cancer - Summary

GENERAL INFORMATION
Gene nameⁱ Gene name according to HGNC.	DNMT3A
Gene descriptionⁱ Gene description according to HGNC.	DNA (cytosine-5-)-methyltransferase 3 alpha
Protein classⁱ Protein class the gene product belongs to according to selected gene lists. List of protein classes.	Cancer-related genes Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins Transcription factors
Predicted localizationⁱ Protein localization predicted from several bioinformatic algorithms. Read more	Intracellular
Number of transcriptsⁱ Number of protein-coding transcribed from this gene as defined by Ensembl.	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryⁱ

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Cell line enhanced (SH-SY5Y)
HPA (normal tissue):	Expressed in all

Protein evidenceⁱ

Evidence at protein level

Protein expression
normal tissueⁱ

Ubiquitous nuclear expression.

ANTIBODY IHC RELIABILITY
Data reliability descriptionⁱ Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.	Antibody staining mainly consistent with RNA expression data.
Reliability scoreⁱ Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data. Read more	Approved based on 2 antibodies. HPA026588 , CAB009469
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PROGNOSTIC SUMMARYⁱ Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
Prognostic marker in pancreatic cancer (favourable), endometrial cancer (unfavourable), liver cancer (unfavourable) and renal cancer (unfavourable).
Pancreatic cancer p<0.001 Endometrial cancer p<0.001 Liver cancer p<0.001 Renal cancer p<0.001 Show all

RNA EXPRESSION OVERVIEWⁱ

TCGA datasetⁱ
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

Read more

RNA cancer category: Expressed in all

PROTEIN EXPRESSIONⁱ

STAINING SUMMARYⁱ

HPA026588	CAB009469

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	DNMT3A
Synonyms
Description	DNA (cytosine-5-)-methyltransferase 3 alpha (HGNC Symbol)
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]
Chromosome	2
Cytoband	p23.3
Chromosome location (bp)	25227855 - 25342590
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000119772 (version 83.38)
Entrez gene	1788
UniProt	Q9Y6K1 (UniProt - Evidence at protein level)
neXtProt	NX_Q9Y6K1
Antibodypedia	DNMT3A antibodies

PROTEIN BROWSERⁱ

DNMT3A-001	DNMT3A-002	DNMT3A-011	DNMT3A-012	DNMT3A-013

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DNMT3A-001 ENSP00000264709 ENST00000264709	Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000278 [mitotic cell cycle] GO:0000775 [chromosome, centromeric region] GO:0000791 [euchromatin] GO:0000792 [heterochromatin] GO:0001741 [XY body] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005720 [nuclear heterochromatin] GO:0005737 [cytoplasm] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006346 [methylation-dependent chromatin silencing] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0007283 [spermatogenesis] GO:0007568 [aging] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0009636 [response to toxic substance] GO:0010212 [response to ionizing radiation] GO:0010288 [response to lead ion] GO:0010424 [DNA methylation on cytosine within a CG sequence] GO:0010467 [gene expression] GO:0010942 [positive regulation of cell death] GO:0016363 [nuclear matrix] GO:0030182 [neuron differentiation] GO:0031667 [response to nutrient levels] GO:0032355 [response to estradiol] GO:0032776 [DNA methylation on cytosine] GO:0033189 [response to vitamin A] GO:0036276 [response to antidepressant] GO:0040029 [regulation of gene expression, epigenetic] GO:0042220 [response to cocaine] GO:0042493 [response to drug] GO:0042802 [identical protein binding] GO:0043045 [DNA methylation involved in embryo development] GO:0043046 [DNA methylation involved in gamete generation] GO:0044027 [hypermethylation of CpG island] GO:0045322 [unmethylated CpG binding] GO:0045471 [response to ethanol] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046498 [S-adenosylhomocysteine metabolic process] GO:0046499 [S-adenosylmethioninamine metabolic process] GO:0046872 [metal ion binding] GO:0051718 [DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates] GO:0071230 [cellular response to amino acid stimulus] GO:0071361 [cellular response to ethanol] GO:0071456 [cellular response to hypoxia] GO:0090116 [C-5 methylation of cytosine] GO:0097284 [hepatocyte apoptotic process] Show all	912 aa 101.9 kDa	No	0
DNMT3A-002 ENSP00000370122 ENST00000380746	Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000791 [euchromatin] GO:0003677 [DNA binding] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0016363 [nuclear matrix] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0042802 [identical protein binding] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0090116 [C-5 methylation of cytosine] Show all	723 aa 81.6 kDa	No	0
DNMT3A-011 ENSP00000324375 ENST00000321117	Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000791 [euchromatin] GO:0003677 [DNA binding] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0016363 [nuclear matrix] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0042802 [identical protein binding] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0090116 [C-5 methylation of cytosine] Show all	912 aa 101.9 kDa	No	0
DNMT3A-012 ENSP00000384852 ENST00000406659	Q9Y6K1 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A Show all	Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000791 [euchromatin] GO:0003677 [DNA binding] GO:0003886 [DNA (cytosine-5-)-methyltransferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0006306 [DNA methylation] GO:0006325 [chromatin organization] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0009008 [DNA-methyltransferase activity] GO:0010467 [gene expression] GO:0016363 [nuclear matrix] GO:0032776 [DNA methylation on cytosine] GO:0040029 [regulation of gene expression, epigenetic] GO:0042802 [identical protein binding] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046872 [metal ion binding] GO:0090116 [C-5 methylation of cytosine] Show all	166 aa 16.9 kDa	No	0
DNMT3A-013 ENSP00000384237 ENST00000402667	A0A0C4DG02 [Direct mapping] DNA (cytosine-5)-methyltransferase 3A Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0006306 [DNA methylation] GO:0008168 [methyltransferase activity] GO:0009008 [DNA-methyltransferase activity] Show all	689 aa 77.8 kDa	No	0