Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	912	2p23.3	DNMT3A	DNA methyltransferase 3 alpha
Mouse	-	908	12 A1.1	Dnmt3a	DNA methyltransferase 3A
Rat	-	908	6q14	Dnmt3a	DNA methyltransferase 3 alpha
Gene and Protein Information Comments
Human DNMT3A has a shorter isoform of 723 amino acids.

Previous and Unofficial Names

DNA (cytosine-5-)-methyltransferase 3 alpha

Database Links
Alphafold	Q9Y6K1 (Hs), O88508 (Mm), Q1LZ53 (Rn)
BRENDA	2.1.1.37
ChEMBL Target	CHEMBL1992 (Hs), CHEMBL3108652 (Mm)
Ensembl Gene	ENSG00000119772 (Hs), ENSMUSG00000020661 (Mm), ENSRNOG00000026649 (Rn)
Entrez Gene	1788 (Hs), 13435 (Mm), 444984 (Rn)
Human Protein Atlas	ENSG00000119772 (Hs)
KEGG Enzyme	2.1.1.37
KEGG Gene	hsa:1788 (Hs), mmu:13435 (Mm), rno:444984 (Rn)
OMIM	602769 (Hs)
Pharos	Q9Y6K1 (Hs)
RefSeq Nucleotide	NM_153759 (Hs), NM_022552 (Hs), NM_001271753 (Mm), NM_001003958 (Rn)
RefSeq Protein	NP_715640 (Hs), NP_072046 (Hs), NP_001258682 (Mm), NP_001003958 (Rn)
UniProtKB	Q9Y6K1 (Hs), O88508 (Mm), Q1LZ53 (Rn)
Wikipedia	DNMT3A (Hs)

Enzyme Reaction
EC Number: 2.1.1.37

Inhibitor Comments

Azacitidine and decitabine are likely to be inhibitors of DNMT1 and DNMT3A. We infer primary target designation from reports of drug action in in vitro and in vivo studies despite the paucity of pharmacological affinity data.

Clinically-Relevant Mutations and Pathophysiology
Disease:  Tatton-Brown-Rahman syndrome; TBRS Synonyms: Tall stature-intellectual disability-facial dysmorphism syndrome [Orphanet: ORPHA404443] OMIM: 615879 Orphanet: ORPHA404443