Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit

Alternative Names

  • EZH2
  • Enhancer of Zeste, Drosophila, Homolog 2
  • ENX1

Associated Diseases

Weaver Syndrome
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OMIM Number

601573

NCBI Gene ID

2146

Uniprot ID

Q15910

Length

76,971 bases

No. of Exons

25

No. of isoforms

5

Protein Name

Histone-lysine N-methyltransferase EZH2

Molecular Mass

85363 Da

Amino Acid Count

746

Genomic Location

chr7:148,807,374-148,884,344

Gene Map Locus
7q36.1

Description

EZH2 gene encodes a histone methyltransferase, which is a member of the Polycomb-group (PcG) family. This enzyme plays a role in transcriptional repression of certain genes and interacts with several proteins including the VAV1 oncoprotein. It is also involved in the di- and trimethylation of Lys-27 of histone H3 on PER1/2 promoters which is essential for the CRY1/2 proteins to inhibit transcription. The dysregulation of this methylation is associated with the development of various types of cancers including: prostate cancer, breast cancer, lymphomas and leukemias. In addition, defects in this enzyme are associated with Weaver syndrome, characterized by accelerated growth and osseous maturation, hoarse and low-pitched cry, unusual craniofacial appearance, and hypertonia with camptodactyly.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004456.5:c.2233G>ASaudi ArabiaNC_000007.14:g.148807669C>TPathogenicPathogenicWeaver SyndromeNG_032043.1:g.81681G>A; NM_004456.5:c.2233G>A; NP_004447.2:p.Glu745Lys39751554865675
NM_004456.5:c.349C>TLebanonNC_000007.14:g.148832648A>GUncertain SignificanceBreast CancerNG_032043.1:g.56702C>T; NM_004456.5:c.349C>T; NP_004447.2:p.Gln117Ter
NM_004456.5:c.44G>TUnited Arab EmiratesNC_000007.14:g.148847255C>AUncertain SignificanceUncertain SignificanceWeaver SyndromeNG_032043.1:g.42095G>T; NM_004456.5:c.44G>T; NP_004447.2:p.Trp15Leu760133156989285

Other Reports

Saudi Arabia

Al-Salem et al.(2013) described a 15-month-old boy with Weaver Syndrome who presented with remarkably accelerated growth pattern; his growth parameters were: weight 18.2 kg, length 89 cm, and OFC 49 cm.  He had a flat occiput, downslanting palpebral fissures, round face, retrognathia, and hypertelorism with mild degree of exophthalmos.  His physical examination showed umbilical hernia and discrepancy in the size of the lower extremities with the left side being smaller.  The left side of his body also showed exaggerated reflexes, increased tone, and reduction of power.  A de novo c.2233G>A missense mutation in exon 20 of the EZH2 gene was identified in the affected patient, resulting in a Glu745Lys amino acid substitution.  This mutation was not found in 200 Saudi Exomes and the Exome Variants Server (ESV) and this de novo mutation is likely to be disease causing. 

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