Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1788
Gene name Gene Name - the full gene name approved by the HGNC.
DNA methyltransferase 3 alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNMT3A
Synonyms (NCBI Gene) Gene synonyms aliases
DNMT3A2, HESJAS, M.HsaIIIA, TBRS
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez 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 met
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs144689354 G>A Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs147001633 C>A,G,T Likely-pathogenic, pathogenic, uncertain-significance Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs147828672 T>C,G Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs149095705 G>A,C,T Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs370376334 G>A,C Pathogenic Stop gained, non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003029 hsa-miR-29b-3p Luciferase reporter assay, Western blot, qRT-PCR 17890317
MIRT003028 hsa-miR-29c-3p Luciferase reporter assay, Western blot, qRT-PCR 17890317
MIRT003021 hsa-miR-29a-3p Luciferase reporter assay, Western blot, qRT-PCR 17890317
MIRT000716 hsa-miR-143-3p real time qRT-PCR, Luciferase reporter assay, Western blot 19638978
MIRT000716 hsa-miR-143-3p real time qRT-PCR, Luciferase reporter assay, Western blot 19638978
Transcription factors
Transcription factor Regulation Reference
MDM2 Activation 22733537
RB1 Repression 22733537
SALL3 Unknown 19139273
SP1 Activation 15362956
SP2 Activation 15362956
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 23042785
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19786833
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000791 Component Euchromatin IDA 12138111
GO:0000792 Component Heterochromatin IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602769 2978 ENSG00000119772
Protein
UniProt ID Q9Y6K1
Protein name DNA (cytosine-5)-methyltransferase 3A (Dnmt3a) (EC 2.1.1.37) (Cysteine methyltransferase DNMT3A) (EC 2.1.1.-) (DNA methyltransferase HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)
Protein function Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (
PDB 2QRV , 3A1A , 3A1B , 3LLR , 3SVM , 4QBQ , 4QBR , 4QBS , 4U7P , 4U7T , 5YX2 , 6BRR , 6F57 , 6PA7 , 6W89 , 6W8B , 6W8D , 6W8J , 8BA5 , 8QZM , 8TDR , 8TE1 , 8TE3 , 8TE4 , 8U5H , 8UW1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00855 PWWP 290 377 PWWP domain Domain
PF17980 ADD_DNMT3 475 530 Cysteine rich ADD domain in DNMT3 Domain
PF00145 DNA_methylase 634 776 C-5 cytosine-specific DNA methylase Domain
Tissue specificity 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. {ECO:0000269|PubMed:10325416}.
Sequence
MPAMPSSGPGDTSSSAAEREEDRKDGEEQEEPRGKEERQEPSTTARKVGRPGRKRKHPPV
ESGDTPKDPAVISKSPSMAQDSGASELLPNGDLEKRSEPQPEEGSPAGGQKGGAPAEGEG
AAETLPEASRAVENGCCTPKEGRGAPAEAGKEQKETNIESMKMEGSRGRLRGGLGWESSL
RQRPMPRLTFQAGDPYYISKRKRDEWLARWKREAEKKAKVIAGMNAVEENQGPGESQKVE
EASPPAVQQPTDPASPTVATTPEPVGSDAGDKNATKAGDDEPEYEDGRGFGIGELVWGKL
RGFSWWPGRIVSWWMTGRSRAAEGTRWVMWFGDGKFSVVCVEKLMPLSSFCSAFHQATYN
KQPMYRKAIYEVLQVAS
SRAGKLFPVCHDSDESDTAKAVEVQNKPMIEWALGGFQPSGPK
GLEPPEEEKNPYKEVYTDMWVEPEAAAYAPPPPAKKPRKSTAEKPKVKEIIDERTRERLV
YEVRQKCRNIEDICISCGSLNVTLEHPLFVGGMCQNCKNCFLECAYQYDD
DGYQSYCTIC
CGGREVLMCGNNNCCRCFCVECVDLLVGPGAAQAAIKEDPWNCYMCGHKGTYGLLRRRED
WPSRLQMFFANNHDQEFDPPKVYPPVPAEKRKPIRVLSLFDGIATGLLVLKDLGIQVDRY
IASEVCEDSITVGMVRHQGKIMYVGDVRSVTQKHIQEWGPFDLVIGGSPCNDLSIVNPAR
KGLYEGTGRLFFEFYRLLHDARPKEGDDRPFFWLFENVVAMGVSDKRDISRFLESN
PVMI
DAKEVSAAHRARYFWGNLPGMNRPLASTVNDKLELQECLEHGRIAKFSKVRTITTRSNSI
KQGKDQHFPVFMNEKEDILWCTEMERVFGFPVHYTDVSNMSRLARQRLLGRSWSVPVIRH
LFAPLKEYFACV
Sequence length 912
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cysteine and methionine metabolism
Metabolic pathways
Efferocytosis
MicroRNAs in cancer
  PRC2 methylates histones and DNA
RMTs methylate histone arginines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
neoplasm Neoplasm rs147001633, rs377577594 N/A
Tatton Brown Rahman Syndrome Tatton-Brown-Rahman overgrowth syndrome rs757823678, rs1573297136, rs149095705, rs1553414406, rs1395575712, rs1553412880, rs758845779, rs147001633, rs1164367418, rs750325978, rs1553412485, rs587777506, rs1558671136, rs587777507, rs377577594
View all (8 more)
N/A
acute myeloid leukemia Acute myeloid leukemia rs147001633, rs1573338559, rs377577594, rs779626155 N/A
Glioblastoma glioblastoma rs1558650888 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute erythroleukemia Associate 35967966
Adenomatous Polyposis Coli Associate 21347319
Adrenal Insufficiency Associate 25126948
Adrenocortical Carcinoma Associate 25078331, 37528470
Aging Premature Associate 34210413
Alzheimer Disease Associate 26371346, 36646969
Anemia Associate 32243522, 37160316
Anemia Aplastic Associate 25139356, 26132940, 29720492, 34587721, 37087521
Aortic Aneurysm Abdominal Associate 31001930
Aortic Aneurysm Thoracic Associate 36291095