Identity
HGNC
LOCATION
18q12.2
LOCUSID
ALIAS
FHOS2,Formactin2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80206
MIM: 609691
HGNC: 26178
Ensembl: ENSG00000134775
Variants:
dbSNP: 80206
ClinVar: 80206
TCGA: ENSG00000134775
COSMIC: FHOD3
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38160043 | 2024 | Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers. | 0 |
| 38160043 | 2024 | Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers. | 0 |
| 38051749 | 2023 | A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study. | 0 |
| 38051749 | 2023 | A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study. | 0 |
| 33586461 | 2021 | Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy. | 5 |
| 33586461 | 2021 | Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy. | 5 |
| 31742804 | 2020 | Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy. | 6 |
| 32335906 | 2020 | Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy. | 8 |
| 32447646 | 2020 | FHOD3 promotes carcinogenesis by regulating RhoA/ROCK1/LIMK1 signaling pathway in medulloblastoma. | 2 |
| 31742804 | 2020 | Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy. | 6 |
| 32335906 | 2020 | Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy. | 8 |
| 32447646 | 2020 | FHOD3 promotes carcinogenesis by regulating RhoA/ROCK1/LIMK1 signaling pathway in medulloblastoma. | 2 |
| 30468920 | 2019 | RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3. | 13 |
| 30468920 | 2019 | RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3. | 13 |
| 30442288 | 2018 | Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy. | 32 |
Citation
Dessen P
FHOD3 (formin homology 2 domain containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50968/fhod3-(formin-homology-2-domain-containing-3)
