Gene
FHOD3
formin homology 2 domain containing 3
- HGNC 26178↗(opens in a new tab)
- Ensembl gene ENSG00000134775↗(opens in a new tab)
- NCBI Gene 80206↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q12.2
- Coordinates
- Chromosome 18: 36,297,713–36,780,220 (GRCh38)
- Exons
- 29 exons across 482.5 kb
- Protein
- 1,622 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FHOS2, KIAA1695, FLJ22297, FLJ22717
- MANE Select transcript
- ENST00000590592.6NM_001281740.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How FHOD3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.7 kb of the gene's 482.5 kb; 4,869 of those bases code for the protein.
How a genome test reads FHOD3
3
positions in FHOD3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 482.5 kb of FHOD3, introns included, not only the 5.7 kb of exons.
Genes linked to the same conditions
- ACADVLacyl-CoA dehydrogenase very long chainShares 1 condition
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- ALPK3alpha kinase 3Shares 1 condition
- BRAFB-Raf proto-oncogene, serine/threonine kinaseShares 1 condition
- CDKN1Ccyclin dependent kinase inhibitor 1CShares 1 condition
- CSRP3cysteine and glycine rich protein 3Shares 1 condition
- DHHdesert hedgehog signaling moleculeShares 1 condition
- DHX37DEAH-box helicase 37Shares 1 condition
- DMPKDM1 protein kinaseShares 1 condition
- ERFETS2 repressor factorShares 1 condition
- ETFAelectron transfer flavoprotein subunit alphaShares 1 condition
- ETFBelectron transfer flavoprotein subunit betaShares 1 condition
Traits linked to FHOD3
The Human Phenotype Ontology lists these as features of the rare conditions FHOD3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FHOD3 gene: formin homology 2 domain containing 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/fhod3
Dante Labs. FHOD3 gene: formin homology 2 domain containing 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fhod3
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