Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol L3MBTL2
Synonyms H-l(3)mbt-l | L3MBT
Gene Description L3MBTL2, L3MBTL histone methyl-lysine binding protein 2, is a Polycomb group protein that plays a role in embryonic development, stem cell proliferation and differentiation (PMID: 22770845), transcriptional regulation (PMID: 21596310), chromatin remodeling (PMID: 30760872) and the DNA damage response pathway (PMID: 29581593). L3MBTL2 mutations have been identified in hepatocellular carcinoma (PMID: 24055508) and ovarian carcinoma (PMID: 25390899), and a fusion with BCOR has been reported in endometrial stromal sarcoma (PMID: 32156473).


Additional content available in CKB BOOST