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FLASH GENE
Symbol INF2 contributors: mct/npt/pgu - updated : 01-02-2017
HGNC name inverted formin, FH2 and WH2 domain containing
HGNC id 23791
Corresponding disease
CMTDIE Charcot-Marie-Tooth disease, dominant intermediate E
FSGS5 focal segmental glomerulosclerosis 5
Location 14q32.33      Physical location : 105.155.942 - 105.185.947
Synonym name
  • inverted formin 2
  • chromosome 14 open reading frame 151
  • chromosome 14 open reading frame 173
  • HBEBP2-binding protein C
    • Synonym symbol(s) C14orf151, C14orf173, MGC13251, DKFZp762A0214, pp9484, FLJ22056
    DNA
    TYPE functioning gene
    STRUCTURE 30.01 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    mode radiation hybrid
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 4668 - 1240 - 2009 19366733
    23 - 4725 - 1249 - 2009 19366733
    5 - 1704 - 234 - 2009 19366733
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Urinarykidneynephronrenal capsule   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchawnn cell Homo sapiens
    Urinarypodocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal diaphanous inhibitory domain (DID), and this DID-containing N terminus of INF2 does not directly bind the Rho GTPase CDC42
  • an FH1 domain and a dimeric formin homology 2 (FH2) domain that binds filament barbed ends and is critical for polymerization and depolymerization activities , and the (FH2) domain accelerates actin filament assembly and remains at the barbed end, modulating elongation
  • a C-terminal diaphanous autoregulatory domain (DAD)/ WASP homology-2 (WH2) domain, actin monomer-binding, required for depolymerization activity, and also serves as a diaphanous autoregulatory domain (DAD), which binds to the N-terminal diaphanous inhibitory domain (DID) , but do not display barbed end binding abilities , and WH2 domain of INF2 might aid in actin nucleation, in a manner perhaps similar to FMNL3 and other formins
    • HOMOLOGY
    Homologene
    FAMILY
  • diaphanous formin family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • formin protein with the unique biochemical ability to accelerate actin filament depolymerization
  • physiologically, INF2 acts in the secretory pathway
  • INF2 and stable, detyrosinated microtubules are central players in centrosome reorientation in T cells
  • upon TCR triggering the INF2 formin, together with the formins DIAPH1 and FMNL1, promotes the formation of a specialized array of stable detyrosinated MT that breaks the symmetrical organization of the T-cell microtubule (MT) cytoskeleton
  • unusual formin protein in that it accelerates both actin polymerization and depolymerization, the latter through an actin filament-severing activity
  • important role for the formin INF2 in specifying the function of fibrillar focal adhesions (FAs) through its ability to generate dorsal stress fibers (SFs)
  • in addition to the common formin ability to accelerate actin nucleation and elongation, INF2 can also sever filaments and accelerate their depolymerization
  • FHOD1 and INF2 are novel components and additional actin-based regulators of podosomes in primary human macrophages
  • FHOD1 and INF2 are novel regulators of inter- and intra-structural contractility of podosomes
  • encoding a diaphanous formin family protein that regulates actin cytoskeleton dynamics, and cause human focal segmental glomerulosclerosis (FSGS)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the Rho-GTPase CDC42 and myelin and lymphocyte protein (MAL) that are implicated in essential steps of myelination and myelin maintenance
  • INF2-induced actin filaments may drive initial mitochondrial constriction, which allows DNM1L-driven secondary constriction
  • formin protein with unique biochemical effects on actin
  • SPIRE1 cooperates with INF2 to regulate actin assembly at ER-mitochondrial contacts
  • SPOP recognizes a Ser/Thr (S/T)-rich motif in the C-terminal region of INF2 and triggers atypical polyubiquitination of INF2
  • INF2 is important for SPOP inactivation-induced prostate cancer cell migration and invasion
  • interacts with INF2
    • cell & other
    REGULATION
    Other post-translationally modified by a C-terminal farnesyl group, and this modification is required for ER interaction
    ASSOCIATED DISORDERS
    corresponding disease(s) FSGS5 , CMTDIE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in mice, normal Inf2 function is not required for glomerular development but normal Inf2 is required for regulation of the actin-based behaviors necessary for response to and/or recovery from injury