Aliases for SETD6 Gene
External Ids for SETD6 Gene
Previous GeneCards Identifiers for SETD6 Gene
This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for SETD6 Gene
SETD6 (SET Domain Containing 6, Protein Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with SETD6 include B-Cell Childhood Acute Lymphoblastic Leukemia and Familial Colorectal Cancer Type X. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include NF-kappaB binding and protein-lysine N-methyltransferase activity. An important paralog of this gene is SETD3.
UniProtKB/Swiss-Prot Summary for SETD6 Gene
Protein-lysine N-methyltransferase. Monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity (PubMed:21131967). Monomethylates 'Lys-8' of H2AZ (H2AZK8me1) (PubMed:23324626). Required for the maintenance of embryonic stem cell self-renewal (By similarity).