Aliases for SETD5 Gene
External Ids for SETD5 Gene
Previous GeneCards Identifiers for SETD5 Gene
This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
GeneCards Summary for SETD5 Gene
SETD5 (SET Domain Containing 5) is a Protein Coding gene. Diseases associated with SETD5 include Mental Retardation, Autosomal Dominant 23 and Cleft Lip. Among its related pathways are PKMTs methylate histone lysines. An important paralog of this gene is KMT2E.
UniProtKB/Swiss-Prot Summary for SETD5 Gene
Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.