Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol EZH2
Synonyms ENX-1 | ENX1 | EZH2b | KMT6 | KMT6A | WVS | WVS2
Gene Description EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit, encodes the catalytic subunit of the polycomb repressive complex 2, which methylates histone H3 to represses gene transcription, including a number of tumor suppressor genes (PMID: 24362326, PMID: 30112706). EZH2 mutations and overexpression has been observed in a variety of tumor types, including non-Hodgkin lymphoma (PMID: 30112706), leukemia (PMID: 29289837), and ovarian cancer (PMID: 29726819).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
A237S missense unknown EZH2 A237S lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). A237S has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Oct 2019).
A677G missense gain of function EZH2 A677G lies within the SET domain of the Ezh2 protein (Uniprot.org). A677G confers a gain of function on Ezh2, as demonstrated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 22323599, PMID: 25253781).
A682G missense gain of function EZH2 A682G (corresponds to A677G in the canonical isoform) lies within the SET domain of the Ezh2 protein (Uniprot.org). A682G confers a gain of function on Ezh2, as demonstrated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 22323599, PMID: 25253781).
A687V missense gain of function EZH2 A687V lies within the SET domain of the Ezh2 protein (UniProt.org). A687V confers a gain of function on the Ezh2 protein, as demonstrated by enhanced methylation of monomethylated substrates and increased H3K27 trimethylation levels in cell culture (PMID: 22850114, PMID: 25253781).
A692V missense gain of function EZH2 A692V (corresponds to A687V in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). A687V confers a gain of function on the Ezh2 protein, as demonstrated by enhanced methylation of monomethylated substrates and increased H3K27 trimethylation levels in cell culture (PMID: 22850114, PMID: 25253781).
act mut unknown gain of function EZH2 act mut indicates that this variant results in a gain of function in the Ezh2 protein. However, the specific amino acid change has not been identified.
C530W missense unknown EZH2 C530W lies within the CXC domain of the Ezh2 protein (UniProt.org). C530W has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
C534fs frameshift loss of function - predicted EZH2 C534fs likely results in a truncation of the Ezh2 protein at aa 534 of 746, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), C534fs is predicted to result in a loss of function in the Ezh2 protein.
C571W missense loss of function - predicted EZH2 C571W lies within the CXC domain of the Ezh2 protein (UniProt.org). C571W is predicted to confer a loss of function on Ezh2, as the corresponding variant in an alternate isoform (C576W) results in reduced H3K27 trimethylation activity (PMID: 20601953).
C571Y missense unknown EZH2 C571Y lies within the CXC domain of the Ezh2 protein (UniProt.org). C571Y is predicted to destabilize Ezh2 protein based on structural modeling (PMID: 24367637), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
C576W missense loss of function - predicted EZH2 C576W lies within a CXC domain of the Ezh2 protein (UniProt.org). C576W is predicted to confer a loss of function to the Ezh2 protein, as demonstrated by reduced H3K27 trimethylation activity (PMID: 20601953).
D136A missense loss of function - predicted EZH2 D136A lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). D136A results in basal methyltransferase activity similar to wild-type Ezh2 in in vitro assays, however, is predicted to lead to deficient allosteric activation of polycomb repressive complex 2 (PRC2) as demonstrated by decreased stimulated methyltransferase activity in in vitro assays (PMID: 29681499).
D142V missense loss of function EZH2 D142V lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). D142V results in basal methyltransferase activity similar to wild-type Ezh2 in in vitro assays, however, leads to deficient allosteric activation of polycomb repressive complex 2 (PRC2) as demonstrated by reduced global H3K27me2 and H3K27me3 levels in murine cultured cells, and decreased stimulated methyltransferase activity in in vitro assays (PMID: 29681499).
D185H missense unknown EZH2 D185H lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). D185H has been identified in the scientific literature (PMID: 30608448, PMID: 28833756, PMID: 26693053), but has not been characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
D233Y missense unknown EZH2 D233Y lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). D233Y has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
E162* nonsense loss of function - predicted EZH2 E162* results in a premature truncation of the Ezh2 protein at amino acid 162 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E162* is predicted to lead to a loss of Ezh2 protein function.
E169D missense unknown EZH2 E169D lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). E169D has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
E246* nonsense loss of function - predicted EZH2 E246* results in a premature truncation of the Ezh2 protein at amino acid 246 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E246* is predicted to lead to a loss of Ezh2 protein function.
E396* nonsense loss of function - predicted EZH2 E396* results in a premature truncation of the Ezh2 protein at amino acid 396 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E396* is predicted to lead to a loss of Ezh2 protein function.
E59* nonsense loss of function - predicted EZH2 E59* results in a premature truncation of the Ezh2 protein at amino acid 59 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E59* is predicted to lead to a loss of Ezh2 protein function.
E720K missense unknown EZH2 E720K lies within the SET domain of the Ezh2 protein (UniProt.org). E720K has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
E721D missense unknown EZH2 E721D lies within the SET domain of the Ezh2 protein (UniProt.org). E721D has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
E740K missense unknown EZH2 E740K does not lie within any known functional domains of the Ezh2 protein (UniProt.org). E740K has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
E740Q missense unknown EZH2 E740Q does not lie within any known functional domains of the Ezh2 protein (UniProt.org). E740Q has been identified in the scientific literature (PMID: 31708574), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Jul 2020).
F120L missense unknown EZH2 F120L lies within the DNMT1, DNMT3B, and DNMT3A-interacting regions of the Ezh2 protein (UniProt.org). F120L has been demonstrated to occur as a drug resistant mutation in the context of EZH2 Y111N (PMID: 28135235), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020). Y
F145L missense loss of function EZH2 F145L lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). F145L results in basal methyltransferase activity similar to wild-type Ezh2 in in vitro assays, however, leads to deficient allosteric activation of polycomb repressive complex 2 (PRC2) as demonstrated by loss of global H3K27 methylation in murine cultured cells, and decreased stimulated methyltransferase activity in in vitro assays (PMID: 29681499).
F673C missense unknown EZH2 F673C lies within the SET domain of the Ezh2 protein (UniProt.org). F673C has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
G159R missense unknown EZH2 G159R lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). G159R has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
G266E missense unknown EZH2 G266E does not lie within any known functional domains of the Ezh2 protein (UniProt.org). G266E has been identified in sequencing studies (PMID: 22237151), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Mar 2020).
G5R missense unknown EZH2 G5R lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). G5R has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
H530N missense unknown EZH2 H530N lies within the CXC domain of the Ezh2 protein (UniProt.org). H530N is predicted to destabilize Ezh2 protein based on structural modeling (PMID: 24367637), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
H689A missense loss of function EZH2 H689A lies within the SET domain of Ezh2 (UniProt.org). H689A is a catalytic-activity dead mutant form of Ezh2 (PMID: 23684459, PMID: 15099518).
I109K missense unknown EZH2 I109K lies within the D1 domain of the Ezh2 protein (PMID: 26360609). I109K has been demonstrated to occur as a secondary mutation that confers resistance to Ezh2 inhibitors (PMID: 26360609), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020). Y
inact mut unknown loss of function EZH2 inact mut indicates that this variant results in a loss of function of the Ezh2 protein. However, the specific amino acid change has not been identified.
K234N missense unknown EZH2 K234N lies within the DNMT1, DNMT3A and DNMT3B-interacting regions of the Ezh2 protein (UniProt.org). K234N has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
K241Q missense unknown EZH2 K241Q lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). K241Q has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
L149Q missense loss of function EZH2 L149Q lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). L149Q results in basal methyltransferase activity similar to wild-type Ezh2 in in vitro assays, however, leads to deficient allosteric activation of polycomb repressive complex 2 (PRC2) as demonstrated by loss of global H3K27 methylation in murine cultured cells, and decreased stimulated methyltransferase activity in in vitro assays (PMID: 29681499).
L71* nonsense loss of function - predicted EZH2 L71* results in a premature truncation of the Ezh2 protein at amino acid 71 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L71* is predicted to lead to a loss of Ezh2 protein function.
M662T missense unknown EZH2 M662T lies within the SET domain of the Ezh2 protein (UniProt.org). M662T has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
mutant unknown unknown EZH2 mutant indicates an unspecified mutation in the EZH2 gene.
N152fs frameshift loss of function - predicted EZH2 N152fs results in a change in the amino acid sequence of the Ezh2 protein beginning at aa 152 of 746, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), N152fs is predicted to result in a loss of function in the Ezh2 protein.
N423T missense unknown EZH2 N423T lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). N423T has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
over exp none no effect EZH2 over exp indicates an over expression of the EZH2 protein. However, the mechanism causing the over expression is unspecified.
P132S missense loss of function EZH2 P132S lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). P132S results in basal methyltransferase activity similar to wild-type Ezh2 in in vitro assays, however, leads to deficient allosteric activation of polycomb repressive complex 2 (PRC2) as demonstrated by loss of global H3K27 methylation in murine cultured cells, and decreased stimulated methyltransferase activity in in vitro assays, and the ability to abrogate the H3K27 hypermethylation effects of the EZH2 Y646N gain of function mutant in cultured cells (PMID: 29681499, PMID: 26694085).
P746S missense unknown EZH2 P746S does not lie within any known functional domains of the Ezh2 protein (UniProt.org). P746S has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
positive unknown unknown EZH2 positive indicates the presence of the EZH2 gene, mRNA, and/or protein.
Q540P missense unknown EZH2 Q540P lies within the CXC domain of the Ezh2 protein (UniProt.org). Q540P has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
Q62K missense unknown EZH2 Q62K lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Q62K has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
Q62R missense unknown EZH2 Q62R lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Q62R has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R18C missense unknown EZH2 R18C lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R18C has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R207Q missense unknown EZH2 R207Q lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R207Q has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R213H missense unknown EZH2 R213H lies within DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R213H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R216Q missense no effect - predicted EZH2 R216Q lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R216Q demonstrates H3K27 trimethylation at similar levels to wild-type Ezh2 in culture (PMID: 25609585) and therefore, is predicted to have no effect on the Ezh2 protein function.
R288Q missense unknown EZH2 R288Q lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Ezh2 has been identified in sequencing studies (PMID: 27843138, PMID: 28069802, PMID: 20601953), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R34L missense unknown EZH2 R34L lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R34L has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R353C missense unknown EZH2 R353C lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). R353C has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R355G missense unknown EZH2 R355G lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). R355G has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R497Q missense unknown EZH2 R497Q lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). R497Q has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R653I missense unknown EZH2 R653I lies within the SET domain of the Ezh2 protein (UniProt.org). R653I has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R679S missense unknown EZH2 R679S lies within the SET domain of the Ezh2 protein (UniProt.org). R679S has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
R685C missense loss of function - predicted EZH2 R685C lies within the SET domain of the Ezh2 protein (UniProt.org). R685C (reported as R690C) is predicted to confer a loss of function to the Ezh2 protein, as demonstrated by a loss of downstream H3K27 trimethylation activity (PMID: 20601953).
R78H missense unknown EZH2 R78H lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). R78H has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
S21A missense gain of function EZH2 S21A lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). S21A confers a gain of function to the Ezh2 protein, as demonstrated by increased global levels of H3K27 trimethylation, and is transforming in cell culture (PMID: 23684459, PMID: 16224021).
S21D missense gain of function EZH2 S21D lies within the DNMT1, DNMT3A and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). S21D results in increased Stat3 methylation and activation, is transforming in culture, and promotes tumor growth in animal models (PMID: 23239736, PMID: 16224021, PMID: 23684459).
S229L missense unknown EZH2 S229L lies within the CDYL-interacting region of the Ezh2 protein (UniProt.org). S229L has been identified in the scientific literature (PMID: 28561778), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
T678_R679delinsKK indel unknown EZH2 T678_R679delinsKK results in a deletion of two amino acids in the SET domain of the Ezh2 protein from amino acids 678 to 679, combined with the insertion of two lysines (K) at the same site (UniProt.org). T678_R679delinsKK has been demonstrated to confer Tazemetostat (EPZ-6438) resistance in culture (PMID: 28231254), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020). Y
V577A missense unknown EZH2 V577A lies within the CXC domain of the Ezh2 protein (UniProt.org). V577A has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
V626M missense loss of function EZH2 V626M (corresponds to V621M in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). V626M confers a loss of function to the Ezh2 protein as indicated by decreased H3K27 histone methylation activity in EZH1 and EZH2-deficient cells in culture and in mouse models (PMID: 29244146).
W60* nonsense loss of function - predicted EZH2 W60* results in a premature truncation of the Ezh2 protein at amino acid 60 of 746 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W60* is predicted to lead to a loss of Ezh2 protein function.
wild-type none no effect Wild-type EZH2 indicates that no mutation has been detected within the EZH2 gene.
Y111D missense unknown EZH2 Y111D lies within the D1 domain of the Ezh2 protein (PMID: 26360609). Y111D has been demonstrated as to occur as a secondary mutation that confers resistance to Ezh2 inhibitors (PMID: 30555699, PMID: 26360609), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020). Y
Y111N missense unknown EZH2 Y111N lies within the D1 domain of the Ezh2 protein (PMID: 26360609). Y111N has been demonstrated to occur as a secondary mutation that confers resistance to Ezh2 inhibitors (PMID: 26360609), but has not been biochemically characterized and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020). Y
Y153C missense loss of function EZH2 Y153C lies within the DNMT1, DNMT3A, and DNMT3B-interacting region of the Ezh2 protein (UniProt.org). Y153C results in basal methyltransferase activity similar to wild-type Ezh2 in in vitro assays, however, leads to deficient allosteric activation of polycomb repressive complex 2 (PRC2) as demonstrated by loss of global H3K27 methylation in murine cultured cells, and decreased stimulated methyltransferase activity in in vitro assays (PMID: 29681499).
Y641C missense gain of function EZH2 Y641C lies within the SET domain of the Ezh2 protein (UniProt.org). Y641C confers a gain of function to the Ezh2 protein, as demonstrated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21856302, PMID: 22323599).
Y641F missense gain of function EZH2 Y641F lies within the SET domain of the Ezh2 protein (UniProt.org). Y641F confers a gain of function to the Ezh2 protein, as indicated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21190999, PMID: 21078963, PMID: 22323599, PMID: 25253781).
Y641H missense gain of function EZH2 Y641H lies within the SET domain of the Ezh2 protein (UniProt.org). Y641H confers a gain of function to the Ezh2 protein, as indicated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21078963, PMID: 26735435, PMID: 22323599).
Y641N missense gain of function EZH2 Y641N lies within the SET domain of the Ezh2 protein (UniProt.org). Y641N confers a gain of function to the Ezh2 protein, as indicated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21190999, PMID: 21078963, PMID: 22323599, PMID: 25253781).
Y641S missense gain of function EZH2 Y641S lies within the SET domain of the Ezh2 protein (UniProt.org). Y641S confers a gain of function to the Ezh2 protein, as indicated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21190999, PMID: 21078963, PMID: 22323599).
Y641X missense unknown EZH2 Y641X indicates any EZH2 missense mutation that results in the tyrosine (Y) at amino acid 641 being replaced by a different amino acid. EZH2 Y641X often results in elevated Ezh2 catalytic activity and increased H3K27 trimethylation (PMID: 21078963, PMID: 21190999).
Y646* nonsense gain of function EZH2 Y646* (corresponds to Y641* in the canonical isoform) results in a premature truncation of the Ezh2 protein at amino acid 646 of 746 (UniProt.org). Y646* confers a gain of function to the Ezh2 protein, resulting in genome-wide increase in H3K27 trimethylation and transcriptional repression in cell culture (PMID: 30692681).
Y646C missense gain of function EZH2 Y646C (corresponds to Y641C in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). Y646C confers a gain of function to the Ezh2 protein, as demonstrated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21856302, PMID: 22323599).
Y646F missense gain of function EZH2 Y646F (corresponds to Y641F in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). Y646F confers a gain of function to the Ezh2 protein, as demonstrated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21190999, PMID: 24563539, PMID: 30692681).
Y646H missense gain of function EZH2 Y646H (corresponds to Y641H in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). Y646H is predicted to confer a gain of function to the Ezh2 protein, as indicated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21078963, PMID: 26735435, PMID: 22323599).
Y646N missense gain of function EZH2 Y646N (corresponds to Y641N in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). Y646N confers a gain of function to the Ezh2 protein, as demonstrated by increased trimethylation at H3K27 (PMID: 22194861, PMID: 30692681) and promotion of tumor growth in cell line-derived xenograft models (PMID: 25493630).
Y646S missense gain of function EZH2 Y646S (corresponds to Y641S in the canonical isoform) lies within the SET domain of the Ezh2 protein (UniProt.org). Y646S confers a gain of function to the Ezh2 protein, as indicated by increased methyltransferase activity with dimethylated substrates, and increased H3K27 trimethylation in cell culture (PMID: 21190999, PMID: 21078963, PMID: 22323599).
Y726* nonsense unknown EZH2 Y726* results in a premature truncation of the Ezh2 protein at amino acid 726 of 746 (UniProt.org). Y726* has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
Y728* nonsense unknown EZH2 Y728* results in a premature truncation of the Ezh2 protein at amino acid 728 of 746 (UniProt.org). Y728* has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
Y728Lfs*6 frameshift unknown EZH2 Y728Lfs*6 indicates a shift in the reading frame starting at amino acid 728 and terminating 6 residues downstream causing a premature truncation of the 746 amino acid Ezh2 protein (UniProt.org). Y728Lfs*6 has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).
Y736C missense unknown EZH2 Y736C does not lie within any known functional domains of the Ezh2 protein (UniProt.org). Y736C has not been characterized in the scientific literature and therefore, its effect on Ezh2 protein function is unknown (PubMed, Apr 2020).