DNMT3A DNA methyltransferase 3 alpha

Gene ID: 1788, updated on 6-Jun-2024
Gene type: protein coding
Also known as: TBRS; HESJAS; DNMT3A2; M.HsaIIIA

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. GeneReviews: Not available
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. GeneReviews: Not available
Acute myeloid leukemia MedGen: C0023467OMIM: 601626GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	See labs
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available
Heyn-Sproul-Jackson syndrome MedGen: C5231475OMIM: 618724GeneReviews: Not available	See labs
Many sequence variants affecting diversity of adult human height. GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available
Tatton-Brown-Rahman overgrowth syndrome MedGen: C4014545OMIM: 615879GeneReviews: Tatton-Brown-Rahman Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-04-29) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-04-29) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 2p23.3

Sequence:: Chromosome: 2; NC_000002.12 (25227874..25342590, complement)

Total number of exons:: 35

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DNMT3A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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