EZH2 - enhancer of zeste 2 polycomb repressive complex 2 subunit Gene
Also Known as WVS; ENX1; KMT6; WVS2; ENX-1; EZH2b; KMT6A
Species: Homo sapiens
About EZH2
This gene has 20 transcripts (splice variants), 237 orthologues, 19 paralogues and is associated with 118 phenotypes. Broad expression in bone marrow (RPKM 9.3), testis (RPKM 8.6) and 14 other tissues.
Summary
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]
EZH2 Products (43)
| mRNA | Protein | Name |
|---|---|---|
| XM_047420000.1 | XP_047275956.1 | histone-lysine N-methyltransferase EZH2 isoform X19 |
| XM_011515894.3 | XP_011514196.1 | histone-lysine N-methyltransferase EZH2 isoform X15 |
| XM_011515893.3 | XP_011514195.1 | histone-lysine N-methyltransferase EZH2 isoform X14 |
| XM_047420008.1 | XP_047275964.1 | histone-lysine N-methyltransferase EZH2 isoform X29 |
| XM_011515895.3 | XP_011514197.1 | histone-lysine N-methyltransferase EZH2 isoform X17 |
| XM_011515892.3 | XP_011514194.1 | histone-lysine N-methyltransferase EZH2 isoform X13 |
| XM_005249964.5 | XP_005250021.1 | histone-lysine N-methyltransferase EZH2 isoform X22 |
| NM_001203247.2 | NP_001190176.1 | histone-lysine N-methyltransferase EZH2 isoform c |
| NM_001203249.2 | NP_001190178.1 | histone-lysine N-methyltransferase EZH2 isoform e |
| XM_011515887.4 | XP_011514189.1 | histone-lysine N-methyltransferase EZH2 isoform X8 |
| XM_011515896.3 | XP_011514198.1 | histone-lysine N-methyltransferase EZH2 isoform X24 |
| XM_047419989.1 | XP_047275945.1 | histone-lysine N-methyltransferase EZH2 isoform X1 |
| XM_047419997.1 | XP_047275953.1 | histone-lysine N-methyltransferase EZH2 isoform X10 |
| XM_011515901.4 | XP_011514203.1 | histone-lysine N-methyltransferase EZH2 isoform X29 |
| XM_047420002.1 | XP_047275958.1 | histone-lysine N-methyltransferase EZH2 isoform X23 |
| XM_047420001.1 | XP_047275957.1 | histone-lysine N-methyltransferase EZH2 isoform X20 |
| NM_001203248.2 | NP_001190177.1 | histone-lysine N-methyltransferase EZH2 isoform d |
| XM_011515883.3 | XP_011514185.1 | histone-lysine N-methyltransferase EZH2 isoform X1 |
| XM_011515885.3 | XP_011514187.1 | histone-lysine N-methyltransferase EZH2 isoform X4 |
| XM_047420009.1 | XP_047275965.1 | histone-lysine N-methyltransferase EZH2 isoform X30 |
| XM_017011817.3 | XP_016867306.1 | histone-lysine N-methyltransferase EZH2 isoform X1 |
| XM_047419993.1 | XP_047275949.1 | histone-lysine N-methyltransferase EZH2 isoform X6 |
| NM_004456.5 | NP_004447.2 | histone-lysine N-methyltransferase EZH2 isoform a |
| XM_047419995.1 | XP_047275951.1 | histone-lysine N-methyltransferase EZH2 isoform X7 |
| XM_047419999.1 | XP_047275955.1 | histone-lysine N-methyltransferase EZH2 isoform X18 |
| XM_017011819.2 | XP_016867308.1 | histone-lysine N-methyltransferase EZH2 isoform X16 |
| XM_047419994.1 | XP_047275950.1 | histone-lysine N-methyltransferase EZH2 isoform X6 |
| XM_047419990.1 | XP_047275946.1 | histone-lysine N-methyltransferase EZH2 isoform X2 |
| XM_017011820.3 | XP_016867309.1 | histone-lysine N-methyltransferase EZH2 isoform X21 |
| XM_047419991.1 | XP_047275947.1 | histone-lysine N-methyltransferase EZH2 isoform X3 |
| NM_152998.3 | NP_694543.1 | histone-lysine N-methyltransferase EZH2 isoform b |
| XM_005249962.5 | XP_005250019.1 | histone-lysine N-methyltransferase EZH2 isoform X2 |
| XM_047420006.1 | XP_047275962.1 | histone-lysine N-methyltransferase EZH2 isoform X26 |
| XM_047420007.1 | XP_047275963.1 | histone-lysine N-methyltransferase EZH2 isoform X28 |
| XM_047419998.1 | XP_047275954.1 | histone-lysine N-methyltransferase EZH2 isoform X14 |
| XM_047419996.1 | XP_047275952.1 | histone-lysine N-methyltransferase EZH2 isoform X9 |
| XM_047420004.1 | XP_047275960.1 | histone-lysine N-methyltransferase EZH2 isoform X25 |
| XM_011515899.4 | XP_011514201.1 | histone-lysine N-methyltransferase EZH2 isoform X27 |
| XM_005249963.5 | XP_005250020.1 | histone-lysine N-methyltransferase EZH2 isoform X6 |
| XM_047420005.1 | XP_047275961.1 | histone-lysine N-methyltransferase EZH2 isoform X26 |
| XM_011515889.3 | XP_011514191.1 | histone-lysine N-methyltransferase EZH2 isoform X11 |
| XM_011515890.3 | XP_011514192.1 | histone-lysine N-methyltransferase EZH2 isoform X12 |
| XM_047419992.1 | XP_047275948.1 | histone-lysine N-methyltransferase EZH2 isoform X5 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of ESC/E(Z) complex |
IDA
IDA: Inferred from direct assay
|
15385962 | GOA |
| located in chromatin |
IDA
IDA: Inferred from direct assay
|
19734898 | GOA |
| is active in chromosome |
IDA
IDA: Inferred from direct assay
|
19734898 | GOA |
| located in chromosome, telomeric region |
IGI
IGI: Inferred from genetic interaction
|
9214638 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19144645 | GOA |
EZH2 Protein Structure
EZH2_WD-Binding: WD repeat binding protein EZH2 (39 - 68)
SET: SET domain (628 - 731)
- 0
- 200
- 400
- 600
- 751 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase EZH2 |
|
EZH2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 24183680 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 26496610 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 27705803 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 20075857 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 33961781 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 23238014 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 34591612 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 20543829 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 23684459 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 37553330 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 27728805 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 19734898 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 22439931 | |
|
Intra
|
EZH2 | Q15910 | SUZ12 | Homo sapiens | Q15022 | 23079660 | |
|
Intra
|
EZH2 | Q15910 | JARID2 | Homo sapiens | Q92833-1 | 20075857 | |
|
Intra
|
EZH2 | Q15910 | JARID2 | Homo sapiens | Q92833-1 | 20075857 | |
|
Intra
|
EZH2 | Q15910 | ASXL1 | Homo sapiens | Q8IXJ9 | 22897849 | |
|
Cross
|
EZH2 | Q15910 | Dnmt3l | Mus musculus | Q9CWR8 | 24074865 | |
|
Intra
|
EZH2 | Q15910 | SUV39H1 | Homo sapiens | O43463 | 23455924 | |
|
Intra
|
EZH2 | Q15910 | STAT3 | Homo sapiens | P40763 | 23684459 | |
|
Intra
|
EZH2 | Q15910 | PHF1 | Homo sapiens | O43189 | 26496610 | |
|
Intra
|
EZH2 | Q15910 | PHF1 | Homo sapiens | O43189 | 27705803 | |
|
Intra
|
EZH2 | Q15910 | PHF1 | Homo sapiens | O43189 | 33961781 | |
|
Intra
|
EZH2 | Q15910 | PHF1 | Homo sapiens | O43189 | 34591612 | |
|
Intra
|
EZH2 | Q15910 | DNMT1 | Homo sapiens | P26358 | 16357870 | |
|
Intra
|
EZH2 | Q15910 | DNMT1 | Homo sapiens | P26358 | 22094255 | |
|
Intra
|
EZH2 | Q15910 | DNMT1 | Homo sapiens | P26358 | 16357870 | |
|
Intra
|
EZH2 | Q15910 | CEP63 | Homo sapiens | Q96MT8 | 25416956 | |
|
Intra
|
EZH2 | Q15910 | DNMT3B | Homo sapiens | Q9UBC3 | 24074865 | |
|
Intra
|
EZH2 | Q15910 | DNMT3B | Homo sapiens | Q9UBC3 | 27728808 | |
|
Intra
|
EZH2 | Q15910 | DNMT3B | Homo sapiens | Q9UBC3 | 16357870 | |
|
Intra
|
EZH2 | Q15910 | PML-RAR | Homo sapiens | Q15156 | 17560333 | |
|
Intra
|
EZH2 | Q15910 | PML-RAR | Homo sapiens | Q15156 | 17560333 | |
|
Intra
|
EZH2 | Q15910 | DNMT3A | Homo sapiens | Q9Y6K1 | 16357870 | |
|
Intra
|
EZH2 | Q15910 | DNMT3A | Homo sapiens | Q9Y6K1 | 16357870 | |
|
Intra
|
EZH2 | Q15910 | DNMT3A | Homo sapiens | Q9Y6K1 | 24074865 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 26496610 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 34591612 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 22094255 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 22897849 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 22439931 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 33961781 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 27705803 | |
|
Intra
|
EZH2 | Q15910 | EED | Homo sapiens | O75530 | 24981860 | |
|
Intra
|
EZH2 | Q15910 | FOXP3 | Homo sapiens | Q9BZS1 | 30510991 | |
|
Intra
|
EZH2 | Q15910 | FOXP3 | Homo sapiens | Q9BZS1 | 30510991 | |
|
Intra
|
EZH2 | Q15910 | FOXP3 | Homo sapiens | Q9BZS1 | 30510991 |
EZH2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80507 | KMT6/EZH2 Antibody (YA320) | IHC-P, ICC/IF | Human |
| HY-P83287 | KMT6/EZH2 Antibody (YA3032) | WB | Human |
| HY-P83287A | KMT6/EZH2 Antibody (YA3032)(PBS only) | WB | Human |
| HY-P86229 | KMT6/EZH2 Antibody (YA5921) | WB, IHC-P, ICC/IF, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Chronic Leukemia |
|
|
| Tatton-Brown-Rahman Syndrome |
|
|
| Colorectal Cancer |
|
|
| Lymphoma |
|
|
| Transitional Cell Carcinoma |
|
|
| Essential Thrombocythemia |
|
|
| Breast Cancer |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Myelofibrosis |
|
|
| Wilms Tumor 1 |
|
|
| Rhabdoid Cancer |
|
|
| Lung Cancer |
|
|
| Eye Disease |
|
|
| Gastric Cancer |
|
|
| Melanoma, Uveal |
|
|
| Down Syndrome |
|
|
| Polycythemia Vera |
|
|
| Diffuse Large B-Cell Lymphoma |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Malignant Pleural Mesothelioma |
|
|
| Chordoma |
|
|
| Sotos Syndrome |
|
|
| Rett Syndrome |
|
|
| B-Cell Lymphoma |
|
|
| Nervous System Disease |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Ewing Sarcoma |
|
|
| Ovarian Clear Cell Carcinoma |
|
|
| Breast Myoepithelial Carcinoma |
|
|
| Suppression Of Tumorigenicity 12 |
|
|
| Medulloblastoma |
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Histone Mutated Tumor |
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
|
| Myelodysplastic Syndrome |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Melanoma, Cutaneous Malignant 1 |
|
|
| Esophageal Cancer |
|
|
| Retinitis Pigmentosa |
|
|
| Alpha-Thalassemia |
|
|
| Ezb Diffuse Large B-Cell Lymphoma |
|
|
| Mantle Cell Lymphoma |
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Hepatocellular Carcinoma |
|
|
| Peripheral Nervous System Disease |
|
|
| Epithelioid Sarcoma |
|
|
| Rhabdomyosarcoma |
|
|
| Primary Hyperoxaluria |
|
|
| Fragile X Syndrome |
|
|
| Myeloproliferative Neoplasm |
|
|
| Weaver Syndrome |
|
|
| Neuroblastoma |
|
|
| Cholangiocarcinoma |
|
|
| Follicular Lymphoma |
|
|
| Prostate Cancer |
|
|
| Bone Marrow Cancer |
|
|
| Gallbladder Cancer |
|
|
| Ovarian Cancer |
|
|
| Bladder Cancer |
|
|
| Kabuki Syndrome 1 |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Skin Melanoma |
|
|
| Nasopharyngeal Carcinoma |
|
|
| Hyperoxaluria, Primary, Type I |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | EZH2 | VGNC | VGNC:62018 |
| Rattus norvegicus | EZH2 | RGD | RGD:1595860 |
| Mus musculus | EZH2 | MGD | MGI:107940 |
| Canis familiaris | EZH2 | VGNC | VGNC:40541 |
| Macaca mulatta | EZH2 | VGNC | VGNC:72458 |
| Bos taurus | EZH2 | VGNC | VGNC:28675 |
| Others | EZH2 | NCBI |