FMN2

Chr 1

formin 2

NCBI Gene: 56776 ENSG00000155816 UniProt: Q9NZ56

The protein acts as an actin nucleation factor that assembles and reorganizes the actin cytoskeleton, promotes nuclear actin filament formation in response to DNA damage, and protects against cellular stress by stabilizing cell cycle arrest pathways. Biallelic mutations cause autosomal recessive intellectual developmental disorder (MRT47). This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 47

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429