Aliases for FHOD3 Gene
External Ids for FHOD3 Gene
Previous GeneCards Identifiers for FHOD3 Gene
The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]
GeneCards Summary for FHOD3 Gene
FHOD3 (Formin Homology 2 Domain Containing 3) is a Protein Coding gene. Diseases associated with FHOD3 include Hypertrophic Cardiomyopathy and Hemochromatosis, Type 2B. Gene Ontology (GO) annotations related to this gene include binding and actin binding. An important paralog of this gene is FHOD1.
UniProtKB/Swiss-Prot Summary for FHOD3 Gene
Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes.