SMYD3

Chr 1

SET and MYND domain containing 3

Also known as: KMT3E, ZMYND1, ZNFN3A1, bA74P14.1

NCBI Gene: 64754 ENSG00000185420 UniProt: Q9H7B4 OMIM: 608783

This gene encodes a histone methyltransferase that specifically methylates lysine-4 of histone H3 and lysine-5 of histone H4, functioning as part of RNA polymerase II complexes to regulate transcriptional activation. Mutations cause autosomal dominant developmental delays and intellectual disability with onset in early childhood. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Multiple*

Mechanism· predicted