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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPB41L3
erythrocyte membrane protein band 4.1 like 3
Chromosome 18 · 18p11.31
NCBI Gene: 23136Ensembl: ENSG00000082397.18HGNC: HGNC:3380UniProt: A0A0A0MRA8
196PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcell junctioncell-cell junctionplasma membraneProptosisAbruptio Placentaebenign soft tissue neoplasmprotozoa infectious disease
✦AI Summary

EPB41L3 (erythrocyte membrane protein band 4.1 like 3), also known as DAL-1, encodes a neuronally enriched membrane-cytoskeleton adaptor protein functioning as a tumor suppressor. Primary function: EPB41L3 inhibits cell proliferation and promotes apoptosis 1, playing critical roles in cell spreading, migration, and cytoskeletal scaffolding that support oligodendrocyte-axon adhesions essential for proper myelination 2. Mechanism: The protein modulates protein arginine N-methyltransferase activity and is regulated by transcription factors like CDC5L 1. EPB41L3 influences extracellular matrix and adhesion-related gene expression; FOXA1 O-GlcNAcylation promotes repression of EPB41L3 in breast cancer metastasis 3. Disease relevance: EPB41L3 is frequently silenced through promoter hypermethylation in gastric cancer and cervical neoplasia, contributing to disease progression 1, 4. Biallelic EPB41L3 loss-of-function variants cause autosomal recessive developmental disorder with seizures, intellectual disability, hypotonia, and delayed myelination 2. A genetic locus containing EPB41L3 is associated with lacunar stroke risk 5. Clinical significance: EPB41L3 DNA methylation serves as a biomarker for cervical precancers in HPV-positive women 6, 7, while reduced expression predicts poor gastric cancer prognosis 1. Epigenetic reactivation via demethylation agents shows tumor-suppressive potential 8.

Sources cited
1
EPB41L3 functions as tumor suppressor with reduced expression in gastric cancer; regulated by transcription factor CDC5L; influences extracellular matrix pathways
PMID: 39354571
2
EPB41L3 encodes 4.1B protein essential for oligodendrocyte-axon adhesions and myelination; biallelic loss-of-function variants cause developmental disorder with seizures and myelination defects
PMID: 39292993
3
FOXA1 O-GlcNAcylation promotes breast cancer metastasis by orchestrating repression of adhesion-related genes including EPB41L3
PMID: 37595040
4
EPB41L3 DNA methylation is elevated in cervical intraepithelial neoplasia among women with HIV-1 and associates with lower CD4 count
PMID: 30005021
5
EPB41L3 methylation serves as biomarker for cervical precancer detection in hrHPV-positive women with high specificity and predictive value
PMID: 38250859
6
EPB41L3 locus (ZBTB14-EPB41L3) associated with lacunar stroke risk in genome-wide association studies
PMID: 33773637
7
Individual CpG-sites in EPB41L3 methylation effectively predict high-grade cervical lesions, outperforming global methylation analysis
PMID: 38960143
8
EPB41L3 is epigenetically silenced in cervical, breast, and ovarian cancer through promoter methylation; can be reactivated using artificial transcription factors and demethylation drugs
PMID: 25830725
Disease Associationsⓘ20
ProptosisOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.31Weak
benign soft tissue neoplasmOpen Targets
0.29Weak
protozoa infectious diseaseOpen Targets
0.27Weak
septic shockOpen Targets
0.24Weak
adrenal gland diseaseOpen Targets
0.23Weak
alcohol dependenceOpen Targets
0.22Weak
ovarian neoplasmOpen Targets
0.22Weak
cerebellar degenerationOpen Targets
0.21Weak
retinal degenerationOpen Targets
0.19Weak
complex neurodevelopmental disorderOpen Targets
0.18Weak
gastric cancerOpen Targets
0.10Suggestive
lung cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
complicationOpen Targets
0.06Suggestive
medical procedureOpen Targets
0.06Suggestive
trauma complicationOpen Targets
0.06Suggestive
Spinocerebellar ataxia type 40Open Targets
0.05Suggestive
autosomal dominant sensory ataxia 1Open Targets
0.05Suggestive
null syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CADM1Protein interaction99%PRMT3Protein interaction91%SPTAN1Protein interaction83%SPTBN1Protein interaction77%EPB41Protein interaction67%EPB41L1Protein interaction56%
Tissue Expression6 tissues
Brain
100%
Lung
22%
Ovary
21%
Heart
12%
Bone Marrow
10%
Liver
3%
Gene Interaction Network
Click a node to explore
EPB41L3CADM1PRMT3SPTAN1SPTBN1EPB41EPB41L1
PROTEIN STRUCTURE
Preparing viewer…
PDB6IBE · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.44 [0.35–0.56]
RankingsWhere EPB41L3 stands among ~20K protein-coding genes
  • #2,159of 20,598
    Most Researched196 · top quartile
  • #3,657of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedEPB41L3
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
FOXA1 O-GlcNAcylation-mediated transcriptional switch governs metastasis capacity in breast cancer.
PMID: 37595040
Sci Adv · 2023
1.00
2
Performance of Human Gene EPB41L3 and HPV 16/18 Viral DNA Methylation to Triage hrHPV-Positive Women.
PMID: 38250859
Vaccines (Basel) · 2023
0.90
3
Expression and hypermethylation of JAM and EPB41L3 in cervical squamous cell carcinoma: Clinical significance and applications.
PMID: 38213260
Histol Histopathol · 2024
0.80
4
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol · 2021
0.80
5
Associations of human gene EPB41L3 DNA methylation and cervical intraepithelial neoplasia in women living with HIV-1 in Africa.
PMID: 30005021
AIDS · 2018
0.70