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Aliases for DNMT3A Gene

Aliases for DNMT3A Gene

  • DNA Methyltransferase 3 Alpha 2 3 5
  • DNA (Cytosine-5-)-Methyltransferase 3 Alpha 2 3
  • DNA MTase HsaIIIA 3 4
  • M.HsaIIIA 3 4
  • DNA (Cytosine-5)-Methyltransferase 3A 3
  • DNA Cytosine Methyltransferase 3A2 3
  • DNA Methyltransferase HsaIIIA 4
  • EC 2.1.1.37 4
  • DNMT3A2 3
  • Dnmt3a 4
  • TBRS 3

External Ids for DNMT3A Gene

Previous GeneCards Identifiers for DNMT3A Gene

  • GC02M025377
  • GC02M025548
  • GC02M025430
  • GC02M025367
  • GC02M025455

Summaries for DNMT3A Gene

Entrez Gene Summary 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]

CIViC summary for DNMT3A Gene

  • 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.

Tocris Summary for DNMT3A Gene

  • 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.

Gene Wiki entry for DNMT3A Gene

Additional gene information for DNMT3A Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J025249 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.2 +90.6 90589 4.6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF207 FOS DNMT3A POMC ADCY3 EFR3B GC02P025255 GC02M025128 PIR34629 GC02M025233
GH02J025338 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.6 1565 4.2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF207 GC02P025342 DNMT3A ENSG00000271936 CENPO ASXL2 MIR1301
GH02J026242 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.9 -902.2 -902225 5.5 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 PPARGC1A HADHA HADHB CAD TMEM214 DNMT3A ASXL2 ATRAID RPS2P15 GAREM2 LOC105374334
GH02J024791 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 14 +549.2 549176 4.8 MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC GLIS1 PTRHD1 CENPO LOC105369164 ATAD2B DNMT3A ITSN2 WDCP FAM228B ADCY3 NCOA1
GH02J024358 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.8 +982.7 982660 3.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 POLR2B ITSN2 LOC105374328 ATAD2B DNMT3A WDCP ENSG00000271936 CENPO FAM228A TP53I3 RPL36AP13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNMT3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNMT3A gene promoter:
  • p53
  • YY1

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)
Size:
109,615 bases
Orientation:
Minus strand

Genomic View for DNMT3A Gene

Genes around DNMT3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNMT3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNMT3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for DNMT3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

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

Suggested Antigen Peptide Sequences for DNMT3A Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6K1

UniProtKB/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.
genes like me logo Genes that share domains with DNMT3A: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with DNMT3A: view
genes like me logo Genes that share phenotypes with DNMT3A: view

Human Phenotype Ontology for DNMT3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNMT3A Gene

MGI Knock Outs for DNMT3A:

Animal Model Products

Clone Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNMT3A gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNMT3A Gene

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
genes like me logo Genes that share ontologies with DNMT3A: view

Pathways & Interactions for DNMT3A Gene

genes like me logo Genes that share pathways with DNMT3A: view

Gene Ontology (GO) - Biological Process for DNMT3A Gene

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 --
genes like me logo Genes that share ontologies with DNMT3A: view

No data available for SIGNOR curated interactions for DNMT3A Gene

Drugs & Compounds for DNMT3A Gene

(15) Drugs for DNMT3A Gene - From: PharmGKB, DGIdb, HMDB, Tocris, and Novoseek

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

(5) Additional Compounds for DNMT3A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-methylcytosine
  • 4-amino-5-Methyl-2(1H)-pyrimidinone
  • 4-amino-5-Methyl-2-pyrimidinol
  • 4-amino-5-Methyl-2-(1H)-pyrimidinone
  • 5-Methyl-cytosine
  • 5-Methylcytosine>96
554-01-8
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
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
genes like me logo Genes that share compounds with DNMT3A: view

Transcripts for DNMT3A Gene

mRNA/cDNA for DNMT3A Gene

Unigene Clusters for DNMT3A Gene

DNA (cytosine-5-)-methyltransferase 3 alpha:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNMT3A Gene

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:

Relevant External Links for DNMT3A Gene

GeneLoc Exon Structure for
DNMT3A
ECgene alternative splicing isoforms for
DNMT3A

Expression for DNMT3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNMT3A Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners for DNMT3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNMT3A Gene:

DNMT3A

SOURCE GeneReport for Unigene cluster for DNMT3A Gene:

Hs.515840

mRNA 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
genes like me logo Genes that share expression patterns with DNMT3A: view

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.

Orthologs for DNMT3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNMT3A 34 33
  • 99.81 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DNMT3A 34
  • 96 (a)
OneToOne
LOC482996 33
  • 93.86 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DNMT3A 34 33
  • 93.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnmt3a 16 34 33
  • 90.68 (n)
rat
(Rattus norvegicus)
Mammalia Dnmt3a 33
  • 90.6 (n)
chicken
(Gallus gallus)
Aves DNMT3A 34 33
  • 82.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNMT3A 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496503 33
  • 75.29 (n)
zebrafish
(Danio rerio)
Actinopterygii dnmt3ab 34 33
  • 75.28 (n)
OneToMany
dnmt3aa 34
  • 60 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
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

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

genes like me logo Genes that share paralogs with DNMT3A: view

Variants for DNMT3A Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for DNMT3A Gene

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

Variation tolerance for DNMT3A Gene

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

Human Gene Mutation Database (HGMD)
DNMT3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNMT3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNMT3A Gene

Disorders for DNMT3A Gene

MalaCards: The human disease database

(13) MalaCards diseases for DNMT3A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with DNMT3A: view

No data available for Genatlas for DNMT3A Gene

Publications for DNMT3A Gene

  1. Cloning, expression and chromosome locations of the human DNMT3 gene family. (PMID: 10433969) Xie S … Li E (Gene 1999) 2 3 4 22 58
  2. 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
  3. 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
  4. 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
  5. 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