EZH2 Chromosome 7
Enhancer of zeste 2 polycomb repressive complex 2 subunit
Upload your DNA to see your personal genotypes for variants in EZH2.
What This Gene Does
This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Histone lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing"
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000106462
Associated Conditions (9)
Weaver syndrome
Inborn genetic diseases
EZH2-related disorder
Intellectual disability
Medulloblastoma SHH activated and TP53 wild-type
Neurodevelopmental disorder
Childhood neoplasm
Hereditary cancer-predisposing syndrome
Neoplasm
Key Variants
RS1336390351
Conflicting classifications of pathogenicity
Weaver syndrome, Inborn genetic diseases, Weaver syndrome
Health Risk
RS1388815758
Conflicting classifications of pathogenicity
Weaver syndrome, Weaver syndrome
Health Risk
RS151023145
Conflicting classifications of pathogenicity
Weaver syndrome, Weaver syndrome
Health Risk
RS1554481435
Conflicting classifications of pathogenicity
Weaver syndrome, Inborn genetic diseases, Weaver syndrome
Health Risk
RS199645805
Conflicting classifications of pathogenicity
Weaver syndrome, EZH2-related disorder, Weaver syndrome
Health Risk
RS2129468233
Conflicting classifications of pathogenicity
Weaver syndrome, Weaver syndrome
Health Risk
RS2129477011
Conflicting classifications of pathogenicity
Weaver syndrome, Weaver syndrome
Health Risk
RS368128494
Conflicting classifications of pathogenicity
Weaver syndrome, Intellectual disability, Weaver syndrome
Health Risk
RS61732846
Conflicting classifications of pathogenicity
Weaver syndrome, Weaver syndrome
Health Risk
RS747009766
Conflicting classifications of pathogenicity
Weaver syndrome, Inborn genetic diseases, EZH2-related disorder
Health Risk
RS747028969
Conflicting classifications of pathogenicity
Inborn genetic diseases, Weaver syndrome, Inborn genetic diseases
Health Risk
RS757601923
Conflicting classifications of pathogenicity
Weaver syndrome, Weaver syndrome
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1336390351 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Inborn genetic diseases, Weaver syndrome |
| RS1388815758 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS151023145 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS1554481435 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Inborn genetic diseases, Weaver syndrome |
| RS199645805 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, EZH2-related disorder, Weaver syndrome |
| RS2129468233 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS2129477011 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS368128494 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Intellectual disability, Weaver syndrome |
| RS61732846 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS747009766 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Inborn genetic diseases, EZH2-related disorder |
| RS747028969 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Weaver syndrome, Inborn genetic diseases |
| RS757601923 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS768812143 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS775407864 | Health Risk | Conflicting classifications of pathogenicity | Weaver syndrome, Weaver syndrome |
| RS1060503430 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1064795225 | Health Risk | Likely pathogenic | — |
| RS1064796617 | Health Risk | Likely pathogenic | — |
| RS1131692184 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1321951994 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1554481113 | Health Risk | Likely pathogenic | — |
| RS1554486390 | Health Risk | Likely pathogenic | Medulloblastoma SHH activated and TP53 wild-type, Medulloblastoma SHH activated and TP53 wild-type |
| RS1554499814 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1563181659 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1563205364 | Health Risk | Likely pathogenic | — |
| RS1584844589 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1584862620 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1584862929 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1584875099 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS1802412684 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS193921148 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS2129469054 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS2129476891 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS2129476917 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2536334836 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS2536397734 | Health Risk | Likely pathogenic | Childhood neoplasm, Hereditary cancer-predisposing syndrome, Childhood neoplasm |
| RS2537032583 | Health Risk | Likely pathogenic | EZH2-related disorder, EZH2-related disorder |
| RS587783627 | Health Risk | Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS886039601 | Health Risk | Likely pathogenic | — |
| RS1563181538 | Health Risk | Pathogenic | Weaver syndrome, Weaver syndrome |
| RS193921146 | Health Risk | Pathogenic | Weaver syndrome, Weaver syndrome |
| RS193921147 | Health Risk | Pathogenic | Weaver syndrome, Weaver syndrome |
| RS2129465354 | Health Risk | Pathogenic | Weaver syndrome, Weaver syndrome |
| RS2129467486 | Health Risk | Pathogenic | Weaver syndrome, Weaver syndrome |
| RS587783625 | Health Risk | Pathogenic | Weaver syndrome, EZH2-related disorder, Weaver syndrome |
| RS587783626 | Health Risk | Pathogenic | Weaver syndrome, EZH2-related disorder, Weaver syndrome |
| RS776312600 | Health Risk | Pathogenic | Weaver syndrome, Weaver syndrome |
| RS1808822115 | Health Risk | Pathogenic/Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS2129467664 | Health Risk | Pathogenic/Likely pathogenic | Weaver syndrome, Weaver syndrome |
| RS397515548 | Health Risk | Pathogenic/Likely pathogenic | Weaver syndrome, EZH2-related disorder, Neoplasm |
| RS797045568 | Health Risk | Pathogenic/Likely pathogenic | Weaver syndrome, Weaver syndrome |