FMN2
Function
Actin-binding protein that is involved in actin cytoskeleton assembly and reorganization (PubMed:21730168, PubMed:22330775). Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2 (PubMed:21730168, PubMed:22330775). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis (By similarity). Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest (PubMed:23375502). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480). Protects cells against apoptosis by protecting CDKN1A against degradation (PubMed:23375502).
Involvement in disease
Intellectual developmental disorder, autosomal recessive 47
MRT47
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT47 patients show delayed development, with cognition and speech more affected than motor skills.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the formin homology family. Cappuccino subfamily.
Tissue Specificity
Expressed almost exclusively in the developing and mature central nervous system.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Cytosol
- Cytoplasm
- Perinuclear region
- Nucleus
- Nucleus
- Nucleolus
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasmic vesicle membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasm
- Cell cortex
- Colocalizes with the actin cytoskeleton (PubMed:20082305). Recruited to the membranes via its interaction with SPIRE1 (By similarity). Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion (By similarity). Accumulates in the nucleus following DNA damage (PubMed:26287480).
Alternative names
Formin-2, FMN2