Aliases for DIAPH3 Gene
External Ids for DIAPH3 Gene
Previous HGNC Symbols for DIAPH3 Gene
Previous GeneCards Identifiers for DIAPH3 Gene
This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for DIAPH3 Gene
DIAPH3 (Diaphanous Related Formin 3) is a Protein Coding gene. Diseases associated with DIAPH3 include Auditory Neuropathy, Autosomal Dominant, 1 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Signaling by GPCR and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is DIAPH2.
UniProtKB/Swiss-Prot Summary for DIAPH3 Gene
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.