FHOD3

Aliases:
This biomarker is also known as:
  • FH1/FH2 domain-containing protein 3
  • Formin homolog overexpressed in spleen 2
  • FLJ22717
  • Formactin2
  • formactin-2
  • formin homolog overexpressed in spleen 2
  • Formactin-2
  • FHOD3
  • FLJ22297
  • formin homology 2 domain containing 3
  • FHOS2
  • hFHOS2
  • KIAA1695

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]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: FHOD3

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 to this 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 to this 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 to this 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 to this biomarker.

Version 5.1.0