Seroatlas · Human Serome Atlas

DNMT3A

DNA (cytosine-5)-methyltransferase 3A

Also known as: DNM3A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y6K1
Gene
DNMT3A
Ensembl
ENSG00000119772
Chromosome
2
Canonical length
912 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm
Quaternary structure
Homodimer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

912 residues, UniProt reviewed canonical sequence.

>Q9Y6K1|DNMT3A
     1  MPAMPSSGPG DTSSSAAERE EDRKDGEEQE EPRGKEERQE PSTTARKVGR PGRKRKHPPV
    61  ESGDTPKDPA VISKSPSMAQ DSGASELLPN GDLEKRSEPQ PEEGSPAGGQ KGGAPAEGEG
   121  AAETLPEASR AVENGCCTPK EGRGAPAEAG KEQKETNIES MKMEGSRGRL RGGLGWESSL
   181  RQRPMPRLTF QAGDPYYISK RKRDEWLARW KREAEKKAKV IAGMNAVEEN QGPGESQKVE
   241  EASPPAVQQP TDPASPTVAT TPEPVGSDAG DKNATKAGDD EPEYEDGRGF GIGELVWGKL
   301  RGFSWWPGRI VSWWMTGRSR AAEGTRWVMW FGDGKFSVVC VEKLMPLSSF CSAFHQATYN
   361  KQPMYRKAIY EVLQVASSRA GKLFPVCHDS DESDTAKAVE VQNKPMIEWA LGGFQPSGPK
   421  GLEPPEEEKN PYKEVYTDMW VEPEAAAYAP PPPAKKPRKS TAEKPKVKEI IDERTRERLV
   481  YEVRQKCRNI EDICISCGSL NVTLEHPLFV GGMCQNCKNC FLECAYQYDD DGYQSYCTIC
   541  CGGREVLMCG NNNCCRCFCV ECVDLLVGPG AAQAAIKEDP WNCYMCGHKG TYGLLRRRED
   601  WPSRLQMFFA NNHDQEFDPP KVYPPVPAEK RKPIRVLSLF DGIATGLLVL KDLGIQVDRY
   661  IASEVCEDSI TVGMVRHQGK IMYVGDVRSV TQKHIQEWGP FDLVIGGSPC NDLSIVNPAR
   721  KGLYEGTGRL FFEFYRLLHD ARPKEGDDRP FFWLFENVVA MGVSDKRDIS RFLESNPVMI
   781  DAKEVSAAHR ARYFWGNLPG MNRPLASTVN DKLELQECLE HGRIAKFSKV RTITTRSNSI
   841  KQGKDQHFPV FMNEKEDILW CTEMERVFGF PVHYTDVSNM SRLARQRLLG RSWSVPVIRH
   901  LFAPLKEYFA CV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNMT3A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
18 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 18 nTPM
  • thymus: 15 nTPM
  • retina: 14 nTPM
  • placenta: 12 nTPM
  • cerebellum: 12 nTPM
  • pituitary gland: 11 nTPM

Single-cell type

  • myonuclei: 262 nCPM
  • rod photoreceptor cells: 254 nCPM
  • gonadotrophs: 234 nCPM
  • cone photoreceptor cells: 224 nCPM
  • lactotrophs: 217 nCPM
  • thyrotrophs: 214 nCPM

Immune cell

  • NK-cell: 6.3 nTPM
  • naive CD4 T-cell: 5.7 nTPM
  • naive CD8 T-cell: 5 nTPM
  • plasmacytoid DC: 4.8 nTPM
  • MAIT T-cell: 4.6 nTPM
  • basophil: 4.2 nTPM

Brain region

  • basal ganglia: 43 nTPM
  • white matter: 38 nTPM
  • cerebral cortex: 36 nTPM
  • thalamus: 36 nTPM
  • cerebellum: 35 nTPM
  • hippocampal formation: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNMT3A.

Disease | AllUniProt

Conditions DNMT3A is implicated in, by any mechanism.

Disease | GeneticClinVar

210 pathogenic / likely-pathogenic of 1,306 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on DNMT3A was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.58
gnomAD pLI
0
gnomAD missense Z
3.45
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNMT3A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNMT3A as an antibody target. Whether an autoantibody or antibody against DNMT3A could matter depends on whether native DNMT3A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNMT3A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DNMT3A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DNMT3A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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