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DNMT3A

GENERAL INFORMATION

Gene name

 DNMT3A

Gene description

 DNA (cytosine-5-)-methyltransferase 3 alpha

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA026588 , CAB009469
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

PROTEIN INFORMATION

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

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.