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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FHOD3
formin homology 2 domain containing 3
Chromosome 18 · 18q12.2
NCBI Gene: 80206Ensembl: ENSG00000134775.17HGNC: HGNC:26178UniProt: Q2V2M9
35PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin filament bindingactin filament organizationsarcomere organizationcardiomyopathy, familial hypertrophic, 28hypertrophic cardiomyopathyAbnormality of the cardiovascular systematrial fibrillation
✦AI Summary

FHOD3 (formin homology 2 domain containing 3) is an actin-organizing protein that plays a crucial role in cardiomyocyte sarcomere organization and cardiac muscle function 1. The protein contains conserved FHDHN, FH1, FH2, and FHDHC domains and exists in multiple isoforms due to alternative splicing 2. FHOD3 functions in actin filament polymerization and organization, particularly in cardiac myofibrils, where it is essential for proper sarcomere assembly and maintenance 1. Loss of FHOD3 function leads to severe sarcomere disorganization, impaired calcium handling, compromised mitochondrial function, and reduced contractility in cardiomyocytes 1. The protein also appears to regulate CaMKII signaling pathways, with FHOD3 deficiency triggering CaMKII phosphorylation and activation 1. Mutations in FHOD3 are definitively associated with hypertrophic cardiomyopathy (HCM), with the gene recently receiving definitive classification for HCM causation by the ClinGen expert panel 34. Additionally, intermediate-effect variants in FHOD3 contribute to HCM genetic burden and can modify disease severity, particularly when combined with other pathogenic variants 5. These findings establish FHOD3 as a critical non-sarcomeric gene in cardiac muscle function and inherited cardiomyopathy.

Sources cited
1
FHOD3 deficiency causes sarcomere disorganization, impaired calcium handling, mitochondrial dysfunction, reduced contractility, and CaMKII activation in cardiomyocytes
PMID: 41540467
2
FHOD3 contains conserved FHDHN, FH1, FH2, and FHDHC domains and exists in multiple isoforms due to alternative splicing
PMID: 15010865
3
FHOD3 receives definitive classification for hypertrophic cardiomyopathy causation by ClinGen expert panel
PMID: 39132495
4
FHOD3 has definitive evidence for causing hypertrophic cardiomyopathy
PMID: 39971408
5
Intermediate-effect variants in FHOD3 contribute to HCM genetic burden and can modify disease severity
PMID: 40879562
Disease Associationsⓘ21
cardiomyopathy, familial hypertrophic, 28Open Targets
0.76Strong
hypertrophic cardiomyopathyOpen Targets
0.64Moderate
Abnormality of the cardiovascular systemOpen Targets
0.38Weak
atrial fibrillationOpen Targets
0.35Weak
genetic disorderOpen Targets
0.34Weak
Abnormal abdomen morphologyOpen Targets
0.31Weak
adolescent idiopathic scoliosisOpen Targets
0.30Weak
Abnormal erythrocyte morphologyOpen Targets
0.30Weak
Phenotypic abnormalityOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.27Weak
aortic diseaseOpen Targets
0.27Weak
Loss of consciousnessOpen Targets
0.27Weak
deficiency anemiaOpen Targets
0.26Weak
gastric ulcerOpen Targets
0.24Weak
kidney transplantOpen Targets
0.24Weak
ovarian dysfunctionOpen Targets
0.21Weak
upper extremity fractureOpen Targets
0.21Weak
dilated cardiomyopathyOpen Targets
0.20Weak
appendicitisOpen Targets
0.19Weak
exostosisOpen Targets
0.19Weak
Cardiomyopathy, familial hypertrophic, 28UniProt
Pathogenic Variants5
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)Pathogenic
Cardiomyopathy, familial hypertrophic, 28
★★☆☆2025→ Residue 528
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del)Pathogenic
Cardiomyopathy, familial hypertrophic, 28|Inborn genetic diseases|not provided
★★☆☆2025→ Residue 527
NM_001281740.3(FHOD3):c.1646+1G>CLikely pathogenic
Cardiovascular phenotype
★☆☆☆2024
NM_001281740.3(FHOD3):c.4787-1G>ALikely pathogenic
Cardiomyopathy, familial hypertrophic, 28
★☆☆☆2024
NM_001281740.3(FHOD3):c.1646G>A (p.Ser549Asn)Likely pathogenic
Cardiovascular phenotype
★☆☆☆2022→ Residue 549
View on ClinVar ↗
Related Genes
DESProtein interaction76%ALPK3Co-mentioned in literature40%FHOD1Shared pathway32%KLHL24Co-mentioned in literature30%SYNPO2LShared pathway29%MYLK3Shared pathway29%
Tissue Expression6 tissues
Heart
100%
Brain
5%
Ovary
2%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FHOD3DESALPK3FHOD1KLHL24SYNPO2LMYLK3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2V2M9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.41–0.59]
RankingsWhere FHOD3 stands among ~20K protein-coding genes
  • #10,965of 20,598
    Most Researched35
  • #3,611of 5,498
    Most Pathogenic Variants5
  • #4,056of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedFHOD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
PMID: 33495597
Nat Genet · 2021
1.00
2
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
PMID: 34526680
Nat Rev Cardiol · 2022
0.90
3
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
PMID: 39132495
medRxiv · 2024
0.80
4
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
PMID: 39971408
J Am Coll Cardiol · 2025
0.70
5
Identification and characterization of human FHOD3 gene in silico.
PMID: 15010865
Int J Mol Med · 2004
0.60