HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EPB41L5
erythrocyte membrane protein band 4.1 like 5
Chromosome 2 · 2q14.2
NCBI Gene: 57669Ensembl: ENSG00000115109.15HGNC: HGNC:19819UniProt: Q9HCM4
87PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingcytoskeletonactomyosin structure organizationneurodegenerative diseaselower urinary tract calculusinjuryAbruptio Placentae
✦AI Summary

EPB41L5 is a FERM domain protein that functions as a critical regulator of epithelial cell polarity and architectural integrity. Structurally, EPB41L5 oligomerizes through its FERM-adjacent domain, with this multimerization essential for its role in limiting apical membrane growth and maintaining polarized epithelial organization 1. The protein also regulates mechanotransduction in specialized epithelial cells; in podocytes, EPB41L5 loss impairs YAP/TAZ-dependent signaling and ARHGAP29 expression, leading to defective lamellipodia formation and slit diaphragm dysfunction 2. In proximal tubular epithelial cells, EPB41L5 serves as a differentiation marker, with its downregulation associated with dedifferentiation during lipotoxic stress 3. Disease relevance extends to cancer progression: EPB41L5 expression is elevated in gastric cancer patients with poor prognosis and mediates TGFβ-induced metastasis through p120-catenin interaction 4. Similarly, EPB41L5 is required for both mesenchymal and amoeboid invasion modes through the Arf6-AMAP1-EPB41L5-ZEB1 axis 5. Conversely, in glioblastoma, the tumor suppressor ZBTB7A represses EPB41L5 transcription to inhibit progression 6, and circular EPB41L5 functions as a glioma suppressor by regulating the miR-19a/EPB41L5/AKT axis 7. EPB41L5 appears as a candidate disease gene in Mendelian disease studies 8, suggesting broader clinical significance beyond cancer biology.

Sources cited
1
EPB41L5 and Drosophila Yurt oligomerize through FERM-FA domains and multimerization is crucial for epithelial cell polarity regulation
PMID: 30082297
2
EPB41L5 loss in podocytes impairs YAP/TAZ mechanotransduction and ARHGAP29 expression, causing slit diaphragm and protein uptake defects
PMID: 37443829
3
EPB41L5 is a marker of proximal tubular epithelial cell differentiation and its downregulation associates with dedifferentiation during lipotoxicity
PMID: 39675352
4
EPB41L5 is upregulated in gastric cancer, mediates TGFβ-induced metastasis via p120-catenin interaction, and is a therapeutic target
PMID: 30814110
5
EPB41L5 is required for both mesenchymal and amoeboid cancer cell invasion through the Arf6-AMAP1-EPB41L5-ZEB1 axis
PMID: 27754741
6
ZBTB7A suppresses glioblastoma progression by transcriptional repression of EPB41L5, linking EPB41L5 to EMT and cancer metastasis
PMID: 36596853
7
Circular EPB41L5 functions as a glioma suppressor by regulating the miR-19a/EPB41L5/p-AKT axis and inhibiting glioma cell proliferation and invasion
PMID: 31905344
8
EPB41L5 is identified as a candidate gene linked to human genetic disease in a large diagnostic sequencing cohort
PMID: 28600779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
injuryOpen Targets
0.31Weak
lower urinary tract calculusOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.26Weak
amputationOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.12Weak
smoking initiationOpen Targets
0.10Suggestive
severe acute respiratory syndromeOpen Targets
0.09Suggestive
scoliosisOpen Targets
0.09Suggestive
glioblastomaOpen Targets
0.08Suggestive
COVID-19Open Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Familial drusenOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CRB3Protein interaction100%CRB2Protein interaction100%CNTNAP1Protein interaction86%NXNProtein interaction85%EPB41Protein interaction85%PATJProtein interaction85%
Tissue Expression6 tissues
Liver
100%
Lung
45%
Ovary
35%
Brain
35%
Heart
30%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
EPB41L5CRB3CRB2CNTNAP1NXNEPB41PATJ
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HCM4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.45 [0.34–0.61]
RankingsWhere EPB41L5 stands among ~20K protein-coding genes
  • #5,474of 20,598
    Most Researched87
  • #4,221of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedEPB41L5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
AMPK protects proximal tubular epithelial cells from lysosomal dysfunction and dedifferentiation induced by lipotoxicity.
PMID: 39675352
Autophagy · 2025
0.90
3
A YAP/TAZ-ARHGAP29-RhoA Signaling Axis Regulates Podocyte Protrusions and Integrin Adhesions.
PMID: 37443829
Cells · 2023
0.80
4
Circ-EPB41L5 regulates the host gene
PMID: 31905344
Aging (Albany NY) · 2020
0.70
5
ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
PMID: 36596853
Exp Mol Med · 2023
0.60