Aliases for DNMT3A Gene
Aliases for DNMT3A Gene
External Ids for DNMT3A Gene
- HGNC: 2978
- Entrez Gene: 1788
- Ensembl: ENSG00000119772
- OMIM: 602769
- UniProtKB: Q9Y6K1
Previous GeneCards Identifiers for DNMT3A Gene
- GC02M025377
- GC02M025548
- GC02M025430
- GC02M025367
- GC02M025455
Summaries for DNMT3A Gene
-
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. [provided by RefSeq, Mar 2016]
-
DNMT3A is one of several epigenetic modifiers identified as recurrently mutated in acute myeloid leukemia (AML). DNMT3A mutations are associated with cytogenetically normal AML. In vitro experiments indicate that the R882H mutation acts in a dominant negative manner to disrupt the de novo methyltransferase activity of wildtype homotetramers. AML patient bone marrow harboring R882 mutations were similarly demonstrated to be hypomethylated compared to patients with wildtype DNMT3A. These studies also indicated that non-R882 DNMT3A mutations may act in a functionally distinct manner from R882 mutations. Alternative mechanisms indicate independent prognostic outcomes and treatment protocols may need to be considered for these two classes of DNMT3A mutations.
GeneCards Summary for DNMT3A Gene
DNMT3A (DNA Methyltransferase 3 Alpha) is a Protein Coding gene. Diseases associated with DNMT3A include Tatton-Brown-Rahman Syndrome and Leukemia, Acute Myeloid. Among its related pathways are MicroRNAs in cancer and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. Gene Ontology (GO) annotations related to this gene include identical protein binding and methyltransferase activity. An important paralog of this gene is DNMT3B.
UniProtKB/Swiss-Prot for DNMT3A Gene
-
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated Lys-36 of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.
-
Protein arginine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the arginine residues on histones and other proteins. The dysregulation of this methylation is critical in the development of certain cancers.
Additional gene information for DNMT3A Gene
- Monarch Initiative
- Search for DNMT3A at DataMed
- Search for DNMT3A at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNMT3A Gene
Genomics for DNMT3A Gene
GeneHancer (GH) Regulatory Elements for DNMT3A Gene
Promoters and enhancers for DNMT3A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around DNMT3A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DNMT3A gene promoter:
Regulatory Element Products
Genomic Locations for DNMT3A Gene
Genomic Locations for DNMT3A Gene
- chr2:25,227,855-25,342,590
- (GRCh38/hg38)
- Size:
- 114,736 bases
- Orientation:
- Minus strand
- chr2:25,455,845-25,565,459
- (GRCh37/hg19)
Genomic View for DNMT3A Gene
Genes around DNMT3A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p23.3 by Entrez Gene
- 2p23.3 by HGNC
- 2p23.3 by Ensembl
DNMT3A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DNMT3A Gene
Proteins for DNMT3A Gene
-
Protein details for DNMT3A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6K1-DNM3A_HUMAN
- Recommended name:
- DNA (cytosine-5)-methyltransferase 3A
- Protein Accession:
- Q9Y6K1
- E9PEB8
- Q86TE8
- Q86XF5
- Q8IZV0
- Q8WXU9
Protein attributes for DNMT3A Gene
- Size:
- 912 amino acids
- Molecular mass:
- 101858 Da
- Quaternary structure:
-
- Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L). Interacts with UBC9, PIAS1 and PIAS2 (By similarity). Binds the ZBTB18 transcriptional repressor. Interacts with SETDB1. Associates with HDAC1 through its ADD domain. Interacts with UHRF1 (By similarity). Interacts with DNMT1 and DNMT3B. Interacts with the PRC2/EED-EZH2 complex. Interacts with MPHOSPH8. Interacts with histone H3 that is not methylated at Lys-4 (H3K4).
- SequenceCaution:
-
- Sequence=AAL57039.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAN40037.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for DNMT3A Gene
Protein Expression for DNMT3A Gene
Post-translational modifications for DNMT3A Gene
- Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription.
- Ubiquitination at posLast=367367 and posLast=200200
- Modification sites at PhosphoSitePlus
Other Protein References for DNMT3A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for DNMT3A (DNMT3A)
- Novus Biologicals Antibodies for DNMT3A
- Invitrogen Antibodies for DNMT3A
- GeneTex DNMT3A Antibody for DNMT3A
-
Custom Antibody ServicesProSci Antibodies for DNMT3A
-
Santa Cruz Biotechnology (SCBT) Antibodies for DNMT3A
- Sino Biological Antibodies for DNMT3A
Protein Products
-
OriGene Purified Proteins for DNMT3A
- Search Origene for MassSpec and Protein Over-expression Lysates for DNMT3A
- Origene Custom Protein Services for DNMT3A
- antibodies-online: Search results for 6 available DNMT3A Proteins ranked by validation data
- Compare Top DNMT3A Proteins
-
Quality Products:
- Search GeneTex for Proteins for DNMT3A
Assay Products
- antibodies-online: Search results for 2 available DNMT3A Elisa Kits ranked by validation data
- Compare Top DNMT3A Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for DNMT3A Gene
Domains & Families for DNMT3A Gene
Gene Families for DNMT3A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Transcription factors
Protein Domains for DNMT3A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DNMT3A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y6K1UniProtKB/Swiss-Prot:
DNM3A_HUMAN :- The PWWP domain is essential for targeting to pericentric heterochromatin. It specifically recognizes and binds trimethylated Lys-36 of histone H3 (H3K36me3) (By similarity).
- Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
- Domain:
-
- The PWWP domain is essential for targeting to pericentric heterochromatin. It specifically recognizes and binds trimethylated Lys-36 of histone H3 (H3K36me3) (By similarity).
- Family:
-
- Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
Function for DNMT3A Gene
Molecular function for DNMT3A Gene
- UniProtKB/Swiss-Prot Function:
- Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated Lys-36 of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by binding to the regulatory factor DNMT3L.
- GENATLAS Biochemistry:
- DNA (cytosine -5)-methyltransferase 3 alpha ,abundantly expressed in ES cells but at very low levels in differentiated embryoid bodies or adult tissues,essential for de novo DNA methylation and development (at least in mouse)
Enzyme Numbers (IUBMB) for DNMT3A Gene
Phenotypes From GWAS Catalog for DNMT3A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | ISA | -- |
| GO:0003677 | DNA binding | IDA,IEA | 12138111 |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003886 | DNA (cytosine-5-)-methyltransferase activity | IDA,IEA | 12138111 |
| GO:0005515 | protein binding | IPI | 16357870 |
Phenotypes for DNMT3A Gene
- MGI mutant phenotypes for DNMT3A:
-
inferred from 8 alleles
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- reproductive system phenotype
- embryo phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for DNMT3A:
Animal Models for DNMT3A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DNMT3A
-
CRISPR Products
-
OriGene CRISPR knockouts for DNMT3A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNMT3A
- genomics-online: gRNA clones - Search results for 126 available DNMT3A gene related products
- Overview of 126 available DNMT3A gene related products
- Applied Biological Materials CRISPR for DNMT3A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNMT3A
- GenScript: Design CRISPR guide RNA sequences for DNMT3A
miRNA for DNMT3A Gene
- miRTarBase miRNAs that target DNMT3A
-
- hsa-mir-143-3p (MIRT000716)
- hsa-mir-29a-3p (MIRT003021)
- hsa-mir-29c-3p (MIRT003028)
- hsa-mir-29b-3p (MIRT003029)
- hsa-mir-194-5p (MIRT005897)
- hsa-mir-369-5p (MIRT005960)
- hsa-mir-101-3p (MIRT007188)
- hsa-mir-193b-3p (MIRT016379)
- hsa-mir-18a-3p (MIRT040898)
- hsa-mir-200b-3p (MIRT053568)
- hsa-mir-200c-3p (MIRT053571)
- hsa-mir-539-5p (MIRT440789)
- hsa-mir-7152-5p (MIRT658951)
- hsa-mir-6747-3p (MIRT658952)
- hsa-mir-6727-3p (MIRT658953)
- hsa-mir-4722-3p (MIRT658954)
- hsa-mir-660-3p (MIRT658955)
- hsa-mir-6851-5p (MIRT725547)
- hsa-mir-3689d (MIRT725548)
- hsa-mir-2116-3p (MIRT725549)
- hsa-mir-6887-3p (MIRT725550)
- hsa-mir-4528 (MIRT725551)
- hsa-mir-6729-3p (MIRT725552)
- hsa-mir-340-5p (MIRT725553)
- hsa-mir-29c-5p (MIRT732991)
- bta-mir-29a (MIRT734935)
- bta-mir-29b (MIRT734936)
- bta-mir-29c (MIRT734937)
- hsa-mir-2276-3p (MIRT763974)
- hsa-mir-328-5p (MIRT765616)
- hsa-mir-4708-3p (MIRT771369)
- hsa-mir-6508-3p (MIRT776622)
- hsa-mir-6762-5p (MIRT778479)
- hsa-mir-6845-5p (MIRT780219)
- hsa-mir-6846-3p (MIRT780220)
- hsa-mir-6859-3p (MIRT780525)
- hsa-mir-6885-5p (MIRT781059)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for DNMT3A
- Browse OriGene Inhibitory RNA Products For DNMT3A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNMT3A
- genomics-online: shRNA clones - Search results for 126 available DNMT3A gene related products
- Overview of 126 available DNMT3A gene related products
Clone Products
- Sino Biological Human cDNA Clone for DNMT3A
- VectorBuilder custom plasmid, inducible vectors for DNMT3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DNMT3A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DNMT3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNMT3A
- Applied Biological Materials Clones for DNMT3A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DNMT3A
No data available for Transcription Factor Targets and HOMER Transcription for DNMT3A Gene
Localization for DNMT3A Gene
Subcellular locations from UniProtKB/Swiss-Prot for DNMT3A Gene
- Nucleus. Cytoplasm. Note=Accumulates in the major satellite repeats at pericentric heterochromatin. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000775 | chromosome, centromeric region | IEA | -- |
| GO:0000791 | euchromatin | IDA | 12138111 |
| GO:0000792 | heterochromatin | IEA | -- |
| GO:0001741 | XY body | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 12138111 |
Pathways & Interactions for DNMT3A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
|
| 2 | One carbon pool by folate | ||
| 3 | Chromatin organization | ||
| 4 | Sulfur amino acid metabolism | ||
| 5 | Metabolism | ||
Pathways by source for DNMT3A Gene
4 BioSystems pathways for DNMT3A Gene
7 Reactome pathways for DNMT3A Gene
3 KEGG pathways for DNMT3A Gene
1 GeneGo (Thomson Reuters) pathway for DNMT3A Gene
1 Qiagen pathway for DNMT3A Gene
1 Cell Signaling Technology pathway for DNMT3A Gene
Interacting Proteins for DNMT3A Gene
Selected Interacting proteins:
Q9Y6K1-DNM3A_HUMAN
ENSP00000264709
for DNMT3A Gene via
IID
MINT
UniProtKB
STRING
GPS-Prot Interaction Network for DNMT3A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0000278 | mitotic cell cycle | IEA | -- |
| GO:0006306 | DNA methylation | IDA | 12138111 |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006346 | methylation-dependent chromatin silencing | IEA | -- |
No data available for SIGNOR curated interactions for DNMT3A Gene
Drugs & Compounds for DNMT3A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Warfarin | Approved | Pharma | 505 | |||
| Thioguanine | Approved | Pharma | Purine antimetabolite | 83 | ||
| Decitabine | Approved, Investigational | Pharma | DNA methyltransferase inhibitor | 267 | ||
| Zebularine | Experimental | Pharma | DNA methylation inhibitor, DNA methyltransferase and cytidine deaminase inhibitor | 0 | ||
| s-adenosylhomocysteine | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 5-methylcytosine |
|
554-01-8 | ||||
| s-adenosylmethionine |
|
485-80-3 |
(5) Tocris Compounds for DNMT3A Gene
| Compound | Action | Cas Number |
|---|---|---|
| 5-Azacytidine | DNA methyltransferase inhibitor | 320-67-2 |
| Decitabine | DNA methyltransferase inhibitor | 2353-33-5 |
| Lomeguatrib | MGMT inhibitor | 192441-08-0 |
| RG 108 | Non-nucleoside DNA methyltransferase inhibitor | 48208-26-0 |
| Zebularine | DNA methyltransferase and cytidine deaminase inhibitor | 3690-10-6 |
(8) ApexBio Compounds for DNMT3A Gene
| Compound | Action | Cas Number |
|---|---|---|
| 5-Azacytidine | DNA methyltransferase inhibitor. | 320-67-2 |
| Decitabine (NSC127716, 5AZA-CdR) | Deoxycytidine analog and cellular diifferentiation inducer | 2353-33-5 |
| Lomeguatrib | MGMT inhibitor | 192441-08-0 |
| RG 108 | DNA methyltransferase inhibitor | 48208-26-0 |
| SGI-1027 | DNMT inhibitor | 1020149-73-8 |
| SGI-110 | DNA methyltransferases inhibitor,potent | 929901-49-5 |
| Thioguanine | Purine antimetabolite | 154-42-7 |
| Zebularine | DNA methylation inhibitor | 3690-10-6 |
Transcripts for DNMT3A Gene
mRNA/cDNA for DNMT3A Gene
- (207) Selected AceView cDNA sequences:
- (10) Additional mRNA sequences :
- (15) REFSEQ mRNAs :
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000264709 9501 bps (uc002rgd.5)
- ENST00000321117 4279 bps (uc002rgc.5)
- ENST00000380746 3589 bps (uc002rgb.5)
- ENST00000380756 4477 bps (uc061hex.1)
- ENST00000402667 2300 bps (uc061hey.1)
Unigene Clusters for DNMT3A Gene
CRISPR Products
-
OriGene CRISPR knockouts for DNMT3A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DNMT3A
- genomics-online: gRNA clones - Search results for 126 available DNMT3A gene related products
- Overview of 126 available DNMT3A gene related products
- Applied Biological Materials CRISPR for DNMT3A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DNMT3A
- GenScript: Design CRISPR guide RNA sequences for DNMT3A
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for DNMT3A
- Browse OriGene Inhibitory RNA Products For DNMT3A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNMT3A
- genomics-online: shRNA clones - Search results for 126 available DNMT3A gene related products
- Overview of 126 available DNMT3A gene related products
Clone Products
- Sino Biological Human cDNA Clone for DNMT3A
- VectorBuilder custom plasmid, inducible vectors for DNMT3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DNMT3A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DNMT3A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DNMT3A
- Applied Biological Materials Clones for DNMT3A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | · | 20c | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||
| SP11: |
Expression for DNMT3A Gene
This gene is overexpressed in Urine (35.0) and Peripheral blood mononuclear cells (11.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNMT3A Gene
NURSA nuclear receptor signaling pathways regulating expression of DNMT3A Gene:
DNMT3ASOURCE GeneReport for Unigene cluster for DNMT3A Gene:
Hs.515840mRNA Expression by UniProt/SwissProt for DNMT3A Gene:
Q9Y6K1-DNM3A_HUMAN
Tissue specificity:
Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung.
Evidence on tissue expression from TISSUES for DNMT3A Gene
- Nervous system(4.5)
- Lung(4.4)
- Skin(4.3)
- Intestine(3.7)
- Blood(2.4)
- Bone marrow(2.3)
- Liver(2.2)
- Muscle(2.1)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DNMT3A Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- skeleton
Regions:
Head and neck:
- cheek
- chin
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- skull
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for DNMT3A
-
OriGene qPCR primer pairs and template standards for DNMT3A
- genomics-online: primer clones - Search results for 126 available DNMT3A gene related products
- Overview of 126 available DNMT3A gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNMT3A Gene
Orthologs for DNMT3A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DNMT3A 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | DNMT3A 34 |
|
OneToOne | |
| LOC482996 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | DNMT3A 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Dnmt3a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dnmt3a 33 |
|
||
| chicken (Gallus gallus) |
Aves | DNMT3A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DNMT3A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100496503 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dnmt3ab 34 33 |
|
OneToMany | |
| dnmt3aa 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.7801 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7801 33 |
|
- Species where no ortholog for DNMT3A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for DNMT3A Gene
- ENSEMBL:
- Gene Tree for DNMT3A (if available)
- TreeFam:
- Gene Tree for DNMT3A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DNMT3A: view image
Paralogs for DNMT3A Gene
(2) SIMAP similar genes for DNMT3A Gene using alignment to 4 proteins:
- DNM3A_HUMAN
- F8WE91_HUMAN
- Q6PJ37_HUMAN
- Q8WVA9_HUMAN
Pseudogenes.org Pseudogenes for DNMT3A Gene
Variants for DNMT3A Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057520788 | likely-pathogenic, uncertain-significance, not provided, Tatton-Brown-rahman syndrome | 25,244,322(-) | A/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs141216815 | benign, Tatton-Brown-rahman syndrome | 25,240,662(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
| rs143730975 | not-provided, likely-benign, benign, not specified, not provided, Tatton-Brown-rahman syndrome | 25,300,227(-) | T/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs144062658 | Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] | 25,247,079(-) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs144689354 | likely-pathogenic, Tatton-Brown-rahman syndrome, not provided | 25,243,931(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1879n106 | CNV | deletion | 24896259 |
| dgv57n68 | CNV | loss | 17160897 |
| dgv6740n54 | CNV | gain | 21841781 |
| dgv6741n54 | CNV | gain | 21841781 |
| esv2573580 | CNV | loss | 19546169 |
| esv27729 | CNV | loss | 19812545 |
| esv33372 | CNV | loss | 17666407 |
| esv3583670 | CNV | loss | 25503493 |
| esv988737 | CNV | loss | 20482838 |
| nsv1008732 | CNV | loss | 25217958 |
| nsv1071582 | CNV | deletion | 25765185 |
| nsv455908 | CNV | loss | 19166990 |
| nsv474667 | CNV | novel sequence insertion | 20440878 |
| nsv581215 | CNV | loss | 21841781 |
| nsv581216 | CNV | loss | 21841781 |
| nsv581217 | CNV | loss | 21841781 |
| nsv581218 | CNV | loss | 21841781 |
| nsv581219 | CNV | loss | 21841781 |
| nsv581221 | CNV | gain+loss | 21841781 |
| nsv581230 | CNV | gain+loss | 21841781 |
| nsv581232 | CNV | gain | 21841781 |
| nsv828653 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
2.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.22;
24.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DNMT3A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNMT3A Gene
Disorders for DNMT3A Gene
(13) MalaCards diseases for DNMT3A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tatton-brown-rahman syndrome |
|
|
| leukemia, acute myeloid |
|
|
| rahman syndrome |
|
|
| chronic myelomonocytic leukemia |
|
|
| myelodysplastic syndrome |
|
|
Search DNMT3A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DNM3A_HUMAN- Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]: An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. {ECO:0000269 PubMed:24614070, ECO:0000269 PubMed:27317772, ECO:0000269 PubMed:27701732}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DNMT3A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DNMT3A Gene
Publications for DNMT3A Gene
- Cloning, expression and chromosome locations of the human DNMT3 gene family. (PMID: 10433969) Xie S … Li E (Gene 1999) 2 3 4 22 58
- A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation. (PMID: 19246518) El-Maarri O … Chédin F (Human molecular genetics 2009) 3 22 44 58
- Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX-DNMT3-DNMT3L domain. (PMID: 19834512) Otani J … Shirakawa M (EMBO reports 2009) 3 4 22 58
- Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. (PMID: 17713477) Jia D … Cheng X (Nature 2007) 3 4 22 58
- The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells. (PMID: 16682412) Li H … Pfeifer GP (The Journal of biological chemistry 2006) 3 4 22 58
Products for DNMT3A Gene
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- Invitrogen Antibodies for DNMT3A
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- Cyagen custom Knockout/knockin (KOKI) mouse models for DNMT3A
- VectorBuilder custom plasmid, inducible vectors for DNMT3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DNMT3A
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DNMT3A
- antibodies-online: Search results for 273 available DNMT3A Antibodies ranked by validation data
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- GeneTex DNMT3A Antibody for DNMT3A
- Search GeneTex for Proteins for DNMT3A
- Santa Cruz Biotechnology (SCBT) Antibodies for DNMT3A
- Search Santa Cruz Biotechnology (SCBT) for DNMT3A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DNMT3A
- Custom Antibody ServicesProSci Antibodies for DNMT3A
- Search for DNMT3A Proteins at ProSci
- Horizon Cell Lines for DNMT3A
- genomics-online: cdna clones - Search results for 126 available DNMT3A gene related products
- Overview of 126 available DNMT3A gene related products
- orf clones - Search results for 126 available DNMT3A gene related products
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- genomics-online: gRNA clones - Search results for 126 available DNMT3A gene related products
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- Browse GeneCopoeia Cell Lines
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- GeneCopoeia miRNA 3'UTR Target clone products for DNMT3A
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Sources for DNMT3A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37)