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 Regulation of actin cytoskeleton and G-protein signaling_RhoB regulation pathway. GO annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is DIAPH2.
UniProtKB/Swiss-Prot for DIAPH3 Gene
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. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity).