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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FRMD3
FERM domain containing 3
Chromosome 9 · 9q21.32
NCBI Gene: 257019Ensembl: ENSG00000172159.17HGNC: HGNC:24125UniProt: A2A2Y4
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactomyosin structure organizationcytoskeletoncytoskeletal protein bindingAbnormality of the skeletal systemhypertensionbone remodeling diseasemale reproductive organ cancer
✦AI Summary

FRMD3 (FERM domain containing 3) is a tumor suppressor protein that plays critical roles in cellular structure regulation and disease pathogenesis. The protein functions as a cytoskeletal regulator through protein-protein interactions, particularly with components of cell-cell junctions and cytoskeletal elements 1. FRMD3 acts as a tumor suppressor in breast cancer by promoting ubiquitination-mediated degradation of vimentin through interaction with UBE3A, leading to downregulation of focal adhesion complex proteins and subsequent inhibition of cell proliferation, migration, and invasion 2. In mammary epithelial cells, FRMD3 controls cell fate determination by modulating the Notch signaling pathway through regulation of Disheveled-2 degradation and nuclear localization 3. The protein is clinically significant in multiple disease contexts: reduced FRMD3 expression is associated with chr9 kidney disease severity and progression, with knockdown resulting in increased apoptotic activity and E-cadherin dysregulation in tubule epithelial cells 1. Genetic variants near FRMD3 are associated with diabetic kidney disease risk 45. Low FRMD3 expression correlates with poor outcomes in breast cancer patients and contributes to immune evasion by creating 'cold tumors' resistant to checkpoint inhibitors 26.

Sources cited
1
FRMD3 interacts with cytoskeletal components and cell-cell junctions, and its knockdown increases apoptosis and dysregulates E-cadherin in kidney cells
PMID: 39450948
2
FRMD3 acts as tumor suppressor by promoting vimentin degradation through UBE3A interaction, inhibiting breast cancer proliferation and metastasis
PMID: 36631457
3
FRMD3 controls mammary epithelial cell fate through Notch signaling by regulating Disheveled-2 degradation and nuclear localization
PMID: 38959315
4
Genetic variants near FRMD3 are associated with diabetic kidney disease protection
PMID: 26753002
5
FRMD3 identified as diabetic nephropathy gene through genome-wide association studies
PMID: 29147756
6
FRMD3 expression correlates with immune cell suppression and checkpoint inhibitor resistance in thyroid cancer
PMID: 35756646
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
hypertensionOpen Targets
0.37Weak
bone remodeling diseaseOpen Targets
0.31Weak
male reproductive organ cancerOpen Targets
0.31Weak
malunion fractureOpen Targets
0.31Weak
chronic primary adrenal insufficiencyOpen Targets
0.30Weak
exostosisOpen Targets
0.29Weak
familial glucocorticoid deficiencyOpen Targets
0.29Weak
psoriatic arthritisOpen Targets
0.28Weak
cornea transplantationOpen Targets
0.28Weak
Popliteal synovial cystOpen Targets
0.25Weak
joint diseaseOpen Targets
0.23Weak
corneal edemaOpen Targets
0.23Weak
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Abruptio PlacentaeOpen Targets
0.06Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
NephropathyOpen Targets
0.05Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALKBH4Shared pathway100%EPB41L4AShared pathway100%EPB41L5Shared pathway50%EPB41L1Shared pathway50%EPB41L2Shared pathway33%CDC42BPGShared pathway33%
Tissue Expression6 tissues
Heart
100%
Brain
33%
Bone Marrow
19%
Lung
6%
Ovary
3%
Liver
1%
Gene Interaction Network
Click a node to explore
FRMD3ALKBH4EPB41L4AEPB41L5EPB41L1EPB41L2CDC42BPG
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A2A2Y4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.77Intermediate
Observed/Expected LoF0.37 [0.25–0.56]
RankingsWhere FRMD3 stands among ~20K protein-coding genes
  • #13,910of 20,598
    Most Researched21
  • #3,668of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedFRMD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A Novel Role for FERM Domain-Containing Protein 3 in CKD.
PMID: 39450948
Kidney360 · 2024
1.00
2
Roles of Cadherin2 in Thyroid Cancer.
PMID: 35756646
Front Oncol · 2022
0.90
3
Tumor suppressor FRMD3 controls mammary epithelial cell fate determination via notch signaling pathway.
PMID: 38959315
Sci Adv · 2024
0.80
4
rs1888747 polymorphism in the FRMD3 gene, gene and protein expression: role in diabetic kidney disease.
PMID: 26753002
Diabetol Metab Syndr · 2016
0.70
5
FRMD3 inhibits the growth and metastasis of breast cancer through the ubiquitination-mediated degradation of vimentin and subsequent impairment of focal adhesion.
PMID: 36631457
Cell Death Dis · 2023
0.60