EISSN
| Euchromatic histone-lysine N-methyltransferase 2 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | ? | ||||||
| NCBI gene | 10919 | ||||||
| HGNC | 24066 | ||||||
| OMIM | 606786 | ||||||
| RefSeq | NM_006709 | ||||||
| UniProt | Q96KQ7 | ||||||
| |||||||
Euchromatic histone-lysine N-methyltransferase 2 (EHMT2), also known as G9a, is a protein encoded by the EHMT2 gene in humans. EHMT2 is a member of the histone methyltransferase family, which plays a crucial role in the epigenetic regulation of gene expression.
Function[edit | edit source]
EHMT2 is primarily responsible for the mono- and dimethylation of lysine 9 on histone H3 (H3K9me1 and H3K9me2), which are marks associated with transcriptional repression. This enzyme is involved in the formation of euchromatin, a less condensed form of chromatin that is generally transcriptionally active. However, the methylation of H3K9 by EHMT2 is a key mechanism for the establishment of heterochromatin and the silencing of genes.
EHMT2 interacts with various proteins and complexes, including HP1 (heterochromatin protein 1), to mediate gene silencing. It is also involved in the regulation of DNA methylation and has been implicated in the control of cell cycle progression, apoptosis, and cell differentiation.
Clinical Significance[edit | edit source]
EHMT2 has been associated with several diseases, including cancer, neurological disorders, and metabolic diseases. Overexpression of EHMT2 has been observed in various types of cancer, such as lung cancer, breast cancer, and prostate cancer, where it contributes to tumor progression and metastasis by silencing tumor suppressor genes.
In neurological disorders, EHMT2 has been linked to intellectual disability and autism spectrum disorders. Mutations or dysregulation of EHMT2 can lead to aberrant gene expression patterns that affect brain development and function.
Research and Therapeutic Potential[edit | edit source]
EHMT2 is a target for drug development due to its role in disease. Inhibitors of EHMT2 are being explored as potential therapeutic agents for cancer and other diseases. These inhibitors aim to reactivate silenced genes and restore normal cellular functions.
Also see[edit | edit source]
References[edit | edit source]
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