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FHOD3

Chr 18q12.2

formin homology 2 domain containing 3

Aliases:
FHOS2, KIAA1695, FLJ22297, FLJ22717
MANE:
ENST00000590592.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypertrophic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Dilated and arrhythmogenic cardiomyopathy

Disease associations (Open Targets)

  • cardiomyopathy, familial hypertrophic, 28

    0.76
  • hypertrophic cardiomyopathy

    0.63
  • Abnormality of the cardiovascular system

    0.38
  • hereditary disease

    0.34
  • atrial fibrillation

    0.33
  • Phenotypic abnormality

    0.30
  • Loss of consciousness

    0.29
  • deficiency anemia

    0.29
  • Abnormal abdomen morphology

    0.27
  • adolescent idiopathic scoliosis

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Formin-like protein 3

Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis (By similarity). In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignment

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.