FHOD3 formin homology 2 domain containing 3
Gene ID: 80206, updated on 10-Oct-2024Gene type: protein coding
Also known as: CMH28; FHOS2; Formactin2
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- Go to complete Gene record for FHOD3
- Go to Variation Viewer for FHOD3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cardiomyopathy, familial hypertrophic, 28 | See labs |
| Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. GeneReviews: Not available | |
| Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 18q12.2
- Sequence:
- Chromosome: 18; NC_000018.10 (36297713..36780220)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FHOD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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