Aliases for KMT5B Gene
External Ids for KMT5B Gene
Previous HGNC Symbols for KMT5B Gene
This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for KMT5B Gene
KMT5B (Lysine Methyltransferase 5B) is a Protein Coding gene. Diseases associated with KMT5B include Autism Spectrum Disorder Susceptibility, Kmt5b-Related and Immunodeficiency With Hyper-Igm, Type 2. Among its related pathways are Chromatin organization and Glucocorticoid receptor regulatory network. An important paralog of this gene is KMT5C.
UniProtKB/Swiss-Prot for KMT5B Gene
Histone methyltransferase that specifically trimethylates Lys-20 of histone H4. H4 Lys-20 trimethylation represents a specific tag for epigenetic transcriptional repression. Mainly functions in pericentric heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin in these regions. KMT5B is targeted to histone H3 via its interaction with RB1 family proteins (RB1, RBL1 and RBL2) (By similarity). Plays a role in myogenesis by regulating the expression of target genes, such as EID3.