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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FMN1
formin 1
Chromosome 15 Β· 15q13.3
NCBI Gene: 342184Ensembl: ENSG00000248905.10HGNC: HGNC:3768UniProt: A0A5F9ZHS8
34PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolnucleoplasmformin-nucleated actin cable assemblynucleuscutaneous melanomaprostate carcinomaandrogenetic alopecianevus
✦AI Summary

FMN1 (formin 1) is a non-diaphanous formin family protein that regulates actin cytoskeleton dynamics and plays essential roles in development and cellular organization 1. The protein consists of conserved FMH1, FMH2, FH1, and FH2 domains, with the FMH2 domain functioning as an alpha-catenin binding region 1. FMN1 promotes actin filament assembly and bundling, and unlike diaphanous-related formins, it is not subject to canonical autoinhibition through DID/DAD domains or Rho GTPase activation 2. The protein's activity is negatively regulated by FNBP4, which acts as a stationary inhibitor by binding to the FH1 domain and interdomain connector, preventing FMN1 from displacing capping proteins at actin filament barbed ends 2. Clinically, mutations in the FMN1/GREM1 locus are associated with Cenani-Lenz syndrome, characterized by oligosyndactyly and metacarpal abnormalities, through effects on the BMP signaling pathway 3. Additionally, genetic variants in the FMN1/GREM1 region interact with body mass index in colorectal cancer risk, suggesting a role in cancer susceptibility 4. FMN1 serves as a scaffold protein interacting with multiple cellular components including profilin, SRC, and various FNBP proteins 1.

Sources cited
1
FMN1 is a non-diaphanous formin with conserved FMH1, FMH2, FH1, and FH2 domains that functions as a scaffold protein
PMID: 15202026
2
FMN1 promotes actin assembly and bundling, is not subject to canonical autoinhibition, and is negatively regulated by FNBP4
PMID: 40316024
3
FMN1/GREM1 mutations are associated with Cenani-Lenz syndrome through BMP pathway effects
PMID: 30569497
4
FMN1/GREM1 genetic variants interact with BMI in colorectal cancer risk
PMID: 37249599
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
cutaneous melanomaOpen Targets
0.48Moderate
prostate carcinomaOpen Targets
0.45Moderate
androgenetic alopeciaOpen Targets
0.45Moderate
nevusOpen Targets
0.42Moderate
non-neoplastic nevusOpen Targets
0.42Moderate
hamartomaOpen Targets
0.42Moderate
skin agingOpen Targets
0.41Moderate
Hereditary breast and ovarian cancer syndromeOpen Targets
0.37Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.37Weak
melanocytic nevusOpen Targets
0.33Weak
albuminuriaOpen Targets
0.33Weak
idiopathic pulmonary fibrosisOpen Targets
0.32Weak
smoking initiationOpen Targets
0.32Weak
perinatal diseaseOpen Targets
0.32Weak
Umbilical herniaOpen Targets
0.31Weak
colorectal cancerOpen Targets
0.31Weak
sensorineural hearing lossOpen Targets
0.31Weak
Abnormality of the gastrointestinal tractOpen Targets
0.30Weak
stomach diseaseOpen Targets
0.30Weak
central nervous system cancerOpen Targets
0.27Weak
Pathogenic Variants2
NM_001277313.2(FMN1):c.1867+14927_1867+14960delPathogenic
Breast-ovarian cancer, familial, susceptibility to, 4
β˜…β˜†β˜†β˜†2020
NM_001277313.2(FMN1):c.1867+10788_1867+10789dupPathogenic
Hereditary breast ovarian cancer syndrome
β˜…β˜†β˜†β˜†2018
View on ClinVar β†—
Related Genes
PFN4Protein interaction93%PFN3Protein interaction90%PRPF40AProtein interaction80%PFN1Protein interaction75%SCG5Protein interaction74%GREM1Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Lung
92%
Bone Marrow
21%
Heart
13%
Ovary
10%
Liver
9%
Gene Interaction Network
Click a node to explore
FMN1PFN4PFN3PRPF40APFN1SCG5GREM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q68DA7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.69–1.00]
RankingsWhere FMN1 stands among ~20K protein-coding genes
  • #11,154of 20,598
    Most Researched34
  • #4,490of 5,498
    Most Pathogenic Variants2
  • #9,697of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedFMN1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification and characterization of the human FMN1 gene in silico.
PMID: 15202026
Int J Mol Med Β· 2004
1.00
2
Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
PMID: 30569497
Am J Med Genet A Β· 2019
0.90
3
Nuclear protein FNBP4: A novel inhibitor of non-diaphanous formin FMN1-mediated actin cytoskeleton dynamics.
PMID: 40316024
J Biol Chem Β· 2025
0.80
4
A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk.
PMID: 37249599
Cancer Res Β· 2023
0.70
5
Identification and characterization of human FHOD3 gene in silico.
PMID: 15010865
Int J Mol Med Β· 2004
0.60