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FHOD3

Synonyms
FHOS2, Formactin2
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
7
VUS
2,082
Likely benign
4,218
Benign
5,060

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on FHOD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.1%
Abnormality of the musculoskeletal system
31.6%
Abnormality of blood and blood-forming tissues
21.1%
Abnormality of head or neck
21.1%
Abnormality of the nervous system
21.1%
Abnormality of the integument
15.8%
Growth abnormality
15.8%
Abnormality of limbs
10.5%
Abnormality of the digestive system
10.5%
Abnormality of the ear
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the immune system
10.5%
Abnormality of the cardiovascular system
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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