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FLASH GENE
Symbol FMN2 contributors: mct - updated : 01-03-2014
HGNC name formin 2
HGNC id 14074
Corresponding disease
NSMR9 non syndromic mental retardation 9
Location 1q43      Physical location : 240.255.184 - 240.638.483
Synonym name formin 2-like
DNA
TYPE functioning gene
STRUCTURE 383.31 kb     18 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
ACTN2 1q42-q43 actinin, alpha 2 MTR 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase LOC388754 1 similar to 60S ribosomal protein L35 RYR2 1q42.1-q43 ryanodine receptor 2 (cardiac) ZP4 1q43 zona pellucida glycoprotein 4 LOC391178 1 hypothetical gene supported by AL122093 LOC391179 1 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CHRM3 1q41-q44 cholinergic receptor, muscarinic 3 LOC128136 1q43 similar to Hydroxymethylglutaryl-CoA synthase, cytoplasmic (HMG-CoA synthase) (3-hydroxy-3-methylglutaryl coenzyme A synthase) LOC284711 1q43 similar to 40S ribosomal protein S7 (S8) FMN2 1q43 formin 2 LOC266783 1q43 proteasome 26S non-ATPase subunit 2 pseudogene FLJ21195 1q43 protein related to DAN and cerberus LOC391180 1 similar to 40S ribosomal protein S11 RGS7 1q43 regulator of G-protein signalling 7 LOC388755 1 LOC388755 FH 1q42.1 fumarate hydratase KMO 1q42-q44 kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) OPN3 1q43 opsin 3 (encephalopsin, panopsin) CHML 1q32-q41 choroideremia-like (Rab escort protein 2) FLJ32978 1q43 hypothetical protein FLJ32978 LOC391181 1 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) EXO1 1q43 exonuclease 1 LOC391182 1 similar to 60S ribosomal protein L23a FLJ40773 1q43 hypothetical protein FLJ40773 LOC391183 1 similar to ribosomal protein L24-like; 60S ribosomal protein L30 isolog; my024 protein; homolog of yeast ribosomal like protein 24 LOC391184 1 similar to RCC1-like LOC343365 1q43 similar to capicua homolog LOC388756 1 similar to hypothetical protein LOC349114 LOC388757 1 LOC388757 LOC339077 1q43 hypothetical gene supported by AK092558; AL137655; BC006361 KAB 1q44 KARP-1-binding protein SDCCAG8 1q44 serologically defined colon cancer antigen 8 AKT3 1q43-q44 v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
regionally located RYR2-FMN2-CKTSF1B2 (PRDC) locus at chromosome 1q43 and RYR3-FMN1-CKTSF1B1 (Gremlin) locus at chromosome 15q13-q14 were paralogous regions (paralogons)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 6440 - 1722 - 2004 15289902
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervous    highly Homo sapiensFetal
 brain     Homo sapiensAdult
 braindiencephalonhypothalamus highly
Reproductivefemale systemovary  highly
Visualeyeretina  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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