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Gene Information
Gene symbol: DIAPH3
Gene name: diaphanous homolog 3 (Drosophila)
HGNC ID: 15480
Synonyms: DRF3, FLJ34705, AN, NSDAN
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | DIAPH1 | 1 hits |
| 2 | DIAPH2 | 1 hits |
| 3 | FMN1 | 1 hits |
| 4 | INF2 | 1 hits |
| 5 | NOS1AP | 1 hits |
| 6 | RHOA | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 21278336 | Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2). |
| 2 | 21278336 | In a yeast two-hybrid screen, we identified the diaphanous autoregulatory domains (DADs) of the mammalian diaphanous-related formins (mDias) mDia1, mDia2, and mDia 3 as INF2_DID-interacting partners. |
| 3 | 21278336 | We investigated the influence of this INF2_DID/mDia_DAD interaction on mDia mediated actin polymerization and on serum response factor (SRF) activation. |
| 4 | 21278336 | We find that the interaction of INF2_DID with mDia_DAD inhibited mDia-mediated, Rho-activated actin polymerization, as well as SRF-responsive gene transcriptional changes. |
| 5 | 26086034 | Human Kidney Disease-causing INF2 Mutations Perturb Rho/Dia Signaling in the Glomerulus. |
| 6 | 26086034 | Mutations in Inverted Formin 2 (INF2), a diaphanous formin family protein that regulates actin cytoskeleton dynamics, cause focal segmental glomerulosclerosis (FSGS) and Charcot-Marie-Tooth Disease (CMT) in humans. |
| 7 | 26086034 | In addition to directly remodeling actin filaments in vitro, we have shown that INF2 regulates intracellular actin dynamics and actin dependent cellular behavior by opposing Rhoa/Dia signaling. |
| 8 | 26086034 | The edema, podocyte dysfunction, and an altered glomerular filtration barrier observed in the zebrafish pronephros correlate with mistrafficking of glomerular slit diaphragm proteins, defective slit-diaphragm signaling, and disinhibited diaphanous formin (mDia) activity. |
| 9 | 26086034 | Of particular interest, this INF2 knockdown phenotype is also rescued by loss of either RhoA or Dia2. |
| 10 | 26086034 | This simple assay allows the demonstration that INF2 functions, at least in part, to modulate Dia-mediated Rho signaling, and that disease causing mutations specifically impair this regulatory function. |
| 11 | 26086034 | These data support a model in which disease-associated diaphanous inhibitory domain (DID) mutants in INF2 interfere with its binding to and inhibition of Dia, leading to uncontrolled Rho/Dia signaling and perturbed actin dynamics. |
| 12 | 33523862 | Pharmacologic inhibition of CDC42 or its effectors, formin proteins, reduced NOS1AP-induced filopodia formation. |
| 13 | 33523862 | PMR in NOS1AP knockdown podocytes was also rescued by constitutively active CDC42Q61L or the formin DIAPH3 Modeling a NOS1AP patient variant in knock-in human kidney organoids revealed malformed glomeruli with increased apoptosis. |