Recombinant Human Formin-2 (FMN2), partial

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)

Subcellular Location

Cytoplasm, cytoskeleton; Cytoplasm, cytosol; Cytoplasm, perinuclear region; Nucleus; Nucleus, nucleolus; Cell membrane (Peripheral membrane protein); Cytoplasmic vesicle membrane (Peripheral membrane protein); Cytoplasm, cell cortex

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed almost exclusively in the developing and mature central nervous system

Subunit

Interacts with SPIRE1 (PubMed:21705804, PubMed:21730168). Binds actin (PubMed:20082305). Interacts with CDKN1A (PubMed:23375502)

• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Gregory S.G. et al. The DNA sequence and biological annotation of human chromosome 1. — Nature (2006)
• Totoki Y. et al. PubMed: CI-6FM9UGIHPC7GG (MAR-)
• Leader B. et al. Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system. — Mech. Dev. (2000)
• Shieh D.B. et al. Effects of genistein on beta-catenin signaling and subcellular distribution of actin-binding proteins in human umbilical CD105-positive stromal cells. — J. Cell. Physiol. (2010)
• Peng K.W. et al. Differential role of actin-binding proteins in controlling the adipogenic differentiation of human CD105-positive Wharton's Jelly cells. — Biochim. Biophys. Acta (2012)
• Yamada K. et al. Identification and functional characterization of FMN2, a regulator of the cyclin-dependent kinase inhibitor p21. — Mol. Cell (2013)
• Law R. et al. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. — Am. J. Hum. Genet. (2014)