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FLASH GENE

Symbol

FMN2

contributors: mct - updated : 01-03-2014

HGNC name	formin 2
HGNC id	14074

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous         highly Homo sapiens Fetal   brain         Homo sapiens Adult   brain diencephalon hypothalamus   highly Reproductive female system ovary     highly Visual eye retina     highly

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminus of FMN2 is the important domain required for CDKN1A stability
	a FH1 domain containing 11 proline repeats
	a short sequence motif C-terminal adjacent to the formin-2-FH2 domain could be characterized that mediates the interaction with SPIRE1 and is conserved among the members of the Fmn subgroup of formins

HOMOLOGY

interspecies

homolog to murine Fmn2

Homologene

FAMILY

formin homology family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus,nucleolus
text	localizes to punctae along dendrites

basic FUNCTION	play a role in cytoskeletal organization and/or establishment of cell polarity
	may be involved in maintenance of the meiotic spindle
	is involved in the formation of a dynamic actin meshwork on meiotic spindle and the migration of chromosomes
	SPIRE1, SPIRE2 cooperate with FMN2 to drive asymmetric oocyte division
	is a crucial protein involved in the control of CDKN1A (
	has an important role in cytoskeletal organization and actin nucleation
	in mammalian oocytes, three actin binding proteins, FMN2, SPIRE1, and profilin, synergistically organize a dynamic cytoplasmic actin meshwork that mediates translocation of the spindle toward the cortex and is required for successful fertilization

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	SPIRE1 and SPIRE2 cooperate with Formin-2 (FMN2) to nucleate actin filaments
	target regulated by induction of CDKN1A and by multiple other stress responses, including DNA damage and hypoxia, which have in common activation of cell cycle arrest
	SPIRE1 recruits FMN2 and facilitates its association with barbed ends, followed by rapid processive assembly and release of SPIRE1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NSMR9

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in parathyloid tumor, glioblastoma, retinoblastoma and chondrosarcoma constitutional   deletion     in a boy with non-syndromic intellectual disability

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

germline inactivation of mouse Fmn2 resulted in animals with decreased spine density that have a conditioned fear-learning defect