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Gene

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

Summary

Cytogenetic location
7q36.1
Coordinates
Chromosome 7: 148,807,383–148,884,291 (GRCh38)
Exons
20 exons across 76.9 kb
Protein
751 amino acids
Inheritance
Autosomal dominant
Also known as
EZH1, ENX-1, KMT6, KMT6A
MANE Select transcript
ENST00000320356.7NM_004456.5
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

  • Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)

    • Weaver syndromeAutosomal dominant

      An overgrowth syndrome caused by EZH2 variants, with tall stature, advanced bone age, characteristic facial features and variable learning difficulties.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How EZH2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where EZH2 sits. EZH2 and 10 genes near it on chromosome 7, from 148,345,837 to 149,345,836.Chromosome 77q36.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3148.4 Mb148.6 Mb148.8 Mb149 Mb149.2 MbCNTNAP2: 146,116,002–148,420,998, forward strandCNTNAP2C7orf33: 148,590,766–148,615,860, forward strandC7orf33CUL1: 148,697,914–148,801,228, forward strandCUL1EZH2: 148,807,383–148,884,291, reverse strandEZH2PDIA4: 149,003,046–149,028,667, reverse strandPDIA4ZNF786: 149,069,491–149,090,784, reverse strandZNF786ZNF425: 149,102,784–149,126,348, reverse strandZNF425ZNF398: 149,126,416–149,183,042, forward strandZNF398ZNF282: 149,195,502–149,226,243, forward strandZNF282ZNF212: 149,239,651–149,255,956, forward strandZNF212ZNF783: 149,262,022–149,297,303, forward strandZNF783Diagram of EZH2: 20 exons on the reverse strand of chromosome 7Exon 20: 5 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 18: 4 known disease-causing sitesExon 17: 5 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 20: 148,807,383–148,807,706, 324 basesExon 19: 148,809,071–148,809,155, 85 basesExon 18: 148,809,310–148,809,390, 81 basesExon 17: 148,810,333–148,810,414, 82 basesExon 16: 148,811,625–148,811,720, 96 basesExon 15: 148,813,959–148,814,137, 179 basesExon 14: 148,814,914–148,815,039, 126 basesExon 13: 148,815,506–148,815,546, 41 basesExon 12: 148,816,684–148,816,778, 95 basesExon 11: 148,817,222–148,817,391, 170 basesExon 10: 148,817,877–148,818,117, 241 basesExon 9: 148,819,596–148,819,687, 92 basesExon 8: 148,826,454–148,826,632, 179 basesExon 7: 148,827,164–148,827,266, 103 basesExon 6: 148,828,740–148,828,880, 141 basesExon 5: 148,829,728–148,829,848, 121 basesExon 4: 148,832,634–148,832,750, 117 basesExon 3: 148,846,470–148,846,598, 129 basesExon 2: 148,847,182–148,847,305, 124 basesExon 1: 148,884,164–148,884,291, 128 bases201510515′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 2.7 kb of the gene's 76.9 kb; 2,256 of those bases code for the protein.

How a genome test reads EZH2

23

positions in EZH2 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 76.9 kb of EZH2, introns included, not only the 2.7 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.). EZH2 gene: enhancer of zeste 2 polycomb repressive complex 2 subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/ezh2

Vancouver

Dante Labs. EZH2 gene: enhancer of zeste 2 polycomb repressive complex 2 subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ezh2

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