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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FREM3
FRAS1 related extracellular matrix 3
Chromosome 4 · 4q31.21
NCBI Gene: 166752Ensembl: ENSG00000183090.5HGNC: HGNC:25172UniProt: P0C091
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GO:0005615extracellular matrixcell-matrix adhesionepithelial structure maintenancemalariamyeloid leukemiaAbruptio Placentaechronic obstructive pulmonary disease
✦AI Summary

FREM3 is an extracellular matrix protein that plays important roles in basement membrane structure and cellular functions. The protein localizes to epithelial basement membranes, with a broader distribution pattern compared to other FRAS1/Frem family members, being found in various skin and internal epithelial basement membranes where it colocalizes with collagen VII 1. FREM3 functions independently from the mutually stabilized Fras1/Frem1/Frem2 protein complex, contributing to basement membrane biology and epithelial-mesenchymal integrity 2. The gene shows significant clinical relevance through genetic polymorphisms that confer protection against severe malaria, with variants in FREM3 associated with reduced malaria susceptibility in African populations 34. Additionally, FREM3 polymorphisms have been linked to neuropsychiatric phenotypes, including major depressive disorder susceptibility, altered amygdala reactivity, and perceptual processing speed, potentially through effects on gene expression 56. The protein is also implicated in neurodegenerative diseases, with FREM3-expressing neurons being among those most affected by TDP-43 pathology in ALS/ALS-FTD motor cortex 7. These diverse associations suggest FREM3 plays crucial roles in both structural integrity and disease susceptibility across multiple organ systems.

Sources cited
1
FREM3 localizes broadly to epithelial basement membranes and colocalizes with collagen VII
PMID: 18563433
2
FREM3 operates independently from other Fras1/Frem proteins and contributes to basement membrane biology
PMID: 21182980
3
FREM3 polymorphisms are associated with differential susceptibility to severe malaria in Tanzania
PMID: 25805752
4
FREM3 variants confer protection against severe malaria in Kenyan children
PMID: 30033078
5
FREM3 polymorphisms affect gene expression, amygdala reactivity, and perceptual processing speed in depression
PMID: 26441752
6
FREM3 variants show combined effects with EHD3 in major depressive disorder susceptibility
PMID: 22337703
7
FREM3-expressing neurons are among those most affected by TDP-43 pathology in ALS/ALS-FTD
PMID: 41803120
Disease Associationsⓘ20
malariaOpen Targets
0.33Weak
myeloid leukemiaOpen Targets
0.33Weak
Abruptio PlacentaeOpen Targets
0.24Weak
chronic obstructive pulmonary diseaseOpen Targets
0.20Weak
hypertensionOpen Targets
0.05Suggestive
goutOpen Targets
0.04Suggestive
depressive disorderOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
hypertensive heart diseaseOpen Targets
0.03Suggestive
kidney failureOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
drug allergyOpen Targets
0.03Suggestive
essential hypertensionOpen Targets
0.03Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
dyshidrosisOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
Fraser syndromeOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FREM2Shared pathway80%FREM1Shared pathway60%GYPEProtein interaction58%THBS3Shared pathway50%MSLNShared pathway50%FRAS1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
93%
Lung
14%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
FREM3FREM2FREM1GYPETHBS3MSLNFRAS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P0C091
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.67–0.93]
RankingsWhere FREM3 stands among ~20K protein-coding genes
  • #16,453of 20,598
    Most Researched12
  • #8,659of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedFREM3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human neocortical expansion involves glutamatergic neuron diversification.
PMID: 34616067
Nature · 2021
1.00
2
Multi-modal dissection of cell-type specific TDP-43 pathology in the motor cortex.
PMID: 41803120
Nat Commun · 2026
0.90
3
USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania.
PMID: 25805752
J Infect Dis · 2015
0.80
4
Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study.
PMID: 30033078
Lancet Haematol · 2018
0.70
5
FRAS1-related extracellular matrix 3 (FREM3) single-nucleotide polymorphism effects on gene expression, amygdala reactivity and perceptual processing speed: An accelerated aging pathway of depression risk.
PMID: 26441752
Front Psychol · 2015
0.60