Aliases for PRDM6 Gene
External Ids for PRDM6 Gene
Previous GeneCards Identifiers for PRDM6 Gene
The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]
GeneCards Summary for PRDM6 Gene
PRDM6 (PR/SET Domain 6) is a Protein Coding gene. Diseases associated with PRDM6 include Patent Ductus Arteriosus 3 and Familial Patent Arterial Duct. Among its related pathways are Lysine degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is HIC2.
UniProtKB/Swiss-Prot Summary for PRDM6 Gene
Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression.