FHOD3

Aliases
  • FH1/FH2 domain-containing protein 3
  • FHOD3
  • FHOS2
  • FLJ22297
  • FLJ22717
  • Formactin-2
  • Formactin2
  • Formin homolog overexpressed in spleen 2
  • KIAA1695
  • formactin-2
  • formin homolog overexpressed in spleen 2
  • formin homology 2 domain containing 3
  • hFHOS2
Description
From NCBI 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]
Attributes
QA State
Under Review
Type
Gene
HGNC Name
FHOD3
Certifications
  • None
QA State for Prostate
Under Review

 Non-Public Biomarker

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 Non-Public Biomarker

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 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.

 Non-Public Biomarker

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.