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Gene

DNMT3B

DNA methyltransferase 3 beta

Summary

Cytogenetic location
20q11.21
Coordinates
Chromosome 20: 32,762,385–32,809,356 (GRCh38)
Exons
23 exons across 47 kb
Protein
853 amino acids
MANE Select transcript
ENST00000328111.6NM_006892.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Dyskeratosis Congenita

    • Telomere syndromes

      Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.

How DNMT3B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 20, with a bracket where DNMT3B sits. DNMT3B and 17 genes near it on chromosome 20, from 32,285,871 to 33,285,870.Chromosome 2020q11.21p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3332.4 Mb32.6 Mb32.8 Mb33 Mb33.2 MbKIF3B: 32,277,627–32,335,011, forward strandKIF3BASXL1: 32,358,266–32,439,319, forward strandASXL1NOL4L: 32,443,059–32,585,352, reverse strandNOL4LC20orf203: 32,631,625–32,673,941, reverse strandC20orf203: 32,632,183–32,743,567, reverse strandCOMMD7: 32,702,648–32,743,977, reverse strandCOMMD7DNMT3B: 32,762,385–32,809,356, forward strandDNMT3BMAPRE1: 32,819,769–32,856,294, forward strandMAPRE1EFCAB8: 32,858,923–32,961,845, forward strandEFCAB8SUN5: 32,983,773–33,004,433, reverse strandSUN5BPIFB2: 33,007,696–33,023,709, forward strandBPIFB2BPIFB6: 33,029,189–33,044,230, forward strandBPIFB6BPIFB3: 33,053,903–33,073,847, forward strandBPIFB3BPIFB4: 33,079,643–33,111,751, forward strandBPIFB4BPIFA2: 33,161,768–33,181,412, forward strandBPIFA2BPIFA3: 33,217,310–33,227,806, forward strandBPIFA3BPIFA1: 33,235,987–33,243,311, forward strandBPIFA1BPIFB1: 33,273,480–33,310,382, forward strandBPIFB1Diagram of DNMT3B: 23 exons on the forward strand of chromosome 20Exon 2: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 20: 3 known disease-causing sitesExon 21: 4 known disease-causing sitesExon 22: 1 known disease-causing siteExon 23: 7 known disease-causing sitesExon 1: 32,762,385–32,762,699, 315 basesExon 2: 32,780,318–32,780,465, 148 basesExon 3: 32,781,353–32,781,414, 62 basesExon 4: 32,784,758–32,784,859, 102 basesExon 5: 32,786,502–32,786,627, 126 basesExon 6: 32,787,230–32,787,451, 222 basesExon 7: 32,788,854–32,789,012, 159 basesExon 8: 32,791,601–32,791,708, 108 basesExon 9: 32,792,626–32,792,770, 145 basesExon 10: 32,793,536–32,793,595, 60 basesExon 11: 32,795,409–32,795,534, 126 basesExon 12: 32,795,650–32,795,694, 45 basesExon 13: 32,796,790–32,796,869, 80 basesExon 14: 32,797,187–32,797,299, 113 basesExon 15: 32,798,460–32,798,643, 184 basesExon 16: 32,799,244–32,799,328, 85 basesExon 17: 32,800,153–32,800,298, 146 basesExon 18: 32,800,835–32,800,925, 91 basesExon 19: 32,801,278–32,801,426, 149 basesExon 20: 32,802,385–32,802,470, 86 basesExon 21: 32,805,338–32,805,407, 70 basesExon 22: 32,806,209–32,806,327, 119 basesExon 23: 32,807,762–32,809,356, 1,595 bases1246810121416182022235′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.3 kb of the gene's 47 kb; 2,562 of those bases code for the protein.

How a genome test reads DNMT3B

40

positions in DNMT3B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 47 kb of DNMT3B, introns included, not only the 4.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). DNMT3B gene: DNA methyltransferase 3 beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/dnmt3b

Vancouver

Dante Labs. DNMT3B gene: DNA methyltransferase 3 beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dnmt3b

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