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Details of EZH2 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| EZH2 | KMT6 | Q15910 | EZH2_HUMAN | 2146 | ENSG00000106462 | Histone-lysine N-methyltransferase EZH2 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Weaver syndrome 2 (WVS2) [MIM:614421]: A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614421 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ezh2 | E(z) | mes-2 | Sp-Enz1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| EED | EZH2 | 1 | EED | EZH2 | cpx422 | yes | yes | yes | Known |
| EZH2 | SUZ12 | 1 | EZH2 | SUZ12 | cpx422 | yes | yes | yes | Known |