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DNMT3A (NM_153759) - DNA methyltransferase 3 alpha

Dna (Cytosine-5)-Methyltransferase 3a Isoform B

Mutations Visualisation

Protein summary

This is an alternative isoform of DNMT3A protein. View all 4 isoforms
DNMT3A: DNA (cytosine-5)-methyltransferase 3A isoform b
Description:

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].

Strand
-
Chromosome
2
Protein
723 residues
All mutations
138
PTM sites
22
CDS
25,457,147 - 25,475,066
Transcription
25,455,829 - 25,475,184
20.19% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 1788
UniProt
Ensembl