DNA (cytosine-5)-methyltransferase 3A

DNMT3A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4U7T, 4QBR, 4U7P, 4QBS, 3A1B, 3LLR, 4QBQ, 3SVM, 3A1A, 2QRV
Identifiers
Aliases	DNMT3A, DNMT3A2, M.HsaIIIA, TBRS, DNA (cytosine-5-)-methyltransferase 3 alpha, DNA methyltransferase 3 alpha, HESJAS
External IDs	OMIM: 602769; MGI: 1261827; HomoloGene: 7294; GeneCards: DNMT3A; OMA:DNMT3A - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	25,342,590 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	3,964,443 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; ganglionic eminence; ; ventricular zone; ; Skeletal muscle tissue of biceps brachii; ; oocyte; ; placenta; ; right ovary; ; muscle of thigh; ; Skeletal muscle tissue of rectus abdominis; ; left ovary;
	Top expressed in
	tail of embryo; ; male urethra; ; lamina propria of urethra; ; ejaculatory duct; ; genital tubercle; ; epithelium of urethra; ; female urethra; ; medullary collecting duct; ; muscle layer of urethra; ; Rostral migratory stream;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	methyltransferase activity; transferase activity; DNA binding; DNA-methyltransferase activity; chromatin binding; metal ion binding; protein binding; identical protein binding; DNA (cytosine-5-)-methyltransferase activity; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; transcription corepressor activity; transcription factor binding;
Cellular component	cytoplasm; euchromatin; nuclear matrix; nucleoplasm; heterochromatin; XY body; chromosome, centromeric region; nucleus;
Biological process	response to ionizing radiation; regulation of gene expression by genetic imprinting; C-5 methylation of cytosine; response to estradiol; positive regulation of cell death; cellular response to ethanol; ageing; negative regulation of transcription by RNA polymerase II; DNA methylation involved in gamete generation; response to vitamin A; DNA methylation; methylation; negative regulation of gene expression, epigenetic; response to nutrient levels; response to lead ion; DNA methylation-dependent heterochromatin assembly; spermatogenesis; neuron differentiation; mitotic cell cycle; cellular response to amino acid stimulus; regulation of gene expression; DNA methylation involved in embryo development; response to ethanol; response to toxic substance; cellular response to hypoxia; hepatocyte apoptotic process; response to cocaine; DNA methylation on cytosine; chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	1788
	13435
	ENSG00000119772
	ENSMUSG00000020661
	Q9Y6K1
	O88508
NM_022552; NM_153759; NM_175629; NM_175630; NM_001320892;
	NM_001320893; NM_001375819
	NM_001271753; NM_007872; NM_153743
NP_001307821; NP_001307822; NP_072046; NP_715640; NP_783328;
	NP_783329; NP_001362748
	NP_001258682; NP_031898; NP_714965
	Wikidata
View/Edit Human	View/Edit Mouse

DNA (cytosine-5)-methyltransferase 3A (DNMT3A) is an enzyme that catalyzes the transfer of methyl groups to specific CpG structures in DNA, a process called DNA methylation. The enzyme is encoded in humans by the DNMT3A gene.

This enzyme is responsible for de novo DNA methylation. Such function is to be distinguished from maintenance DNA methylation which ensures the fidelity of replication of inherited epigenetic patterns. DNMT3A forms part of the family of DNA methyltransferase enzymes, which consists of the protagonists DNMT1, DNMT3A and DNMT3B.

While de novo DNA methylation modifies the information passed on by the parent to the progeny, it enables key epigenetic modifications essential for processes such as cellular differentiation and embryonic development, transcriptional regulation, heterochromatin formation, X-inactivation, imprinting and genome stability.

DNMT3a is the gene most commonly found mutated in clonal hematopoiesis, a common aging-related phenomenon in which hematopoietic stem cells (HSCs) or other early blood cell progenitors contribute to the formation of a genetically distinct subpopulation of blood cells.