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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 |
|
