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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPB41L1
erythrocyte membrane protein band 4.1 like 1
Chromosome 20 · 20q11.23
NCBI Gene: 2036Ensembl: ENSG00000088367.23HGNC: HGNC:3378UniProt: A0A0C4DH22
88PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingactomyosin structure organizationcytoskeletonhair colorautosomal dominant non-syndromic intellectual disabilitybasal cell carcinomaatrial fibrillation
✦AI Summary

EPB41L1 encodes protein 4.1N, a structural adaptor protein that functions to confer stability and plasticity to neuronal membranes through interactions with the spectrin-actin-based cytoskeleton, integral membrane channels, and membrane-associated guanylate kinases 1. The gene undergoes alternative polyadenylation and splicing to generate protein diversity, with expression occurring across multiple tissues 1. EPB41L1 plays critical roles in cell adhesion and migration 2. In kidney renal clear cell carcinoma (KIRC), EPB41L1 is downregulated, and reduced expression correlates with poor prognosis; the protein coordinates with amyloid beta precursor protein to regulate cancer cell adhesion, thereby promoting metastasis and tumor invasion 2. Similarly, in glioblastoma multiforme, miR-431-5p suppresses EPB41L1 expression, and this downregulation promotes cell proliferation, invasion, and migration while inhibiting apoptosis 3. In cervical cancer, EPB41L1 expression was identified as one of four predictive genes in a model for lymph node metastasis risk assessment, demonstrating superior diagnostic performance compared to conventional imaging 4. Germline deletions involving EPB41L1 at chromosome 20.2 are associated with intellectual developmental disorder, autosomal dominant 11, characterized by growth retardation, feeding difficulties, hypotonia, and psychomotor developmental delay 5. Genomic alterations including loss of heterozygosity of EPB41L1 have been identified in gastric adenocarcinoma and linked to peritoneal invasion 6.

Sources cited
1
EPB41L1 encodes protein 4.1N; alternative polyadenylation and splicing generate protein diversity
PMID: 27981895
2
EPB41L1 plays roles in cell adhesion and migration; downregulation in KIRC correlates with poor prognosis and increased metastasis
PMID: 32760223
3
miR-431-5p suppresses EPB41L1 in glioblastoma, promoting proliferation, invasion, and migration
PMID: 31749885
4
EPB41L1 is a predictive gene for lymph node metastasis in cervical cancer
PMID: 40181462
5
20q11.2 deletions involving EPB41L1 cause intellectual developmental disorder with growth retardation and developmental delay
PMID: 38511524
6
EPB41L1 loss of heterozygosity identified in gastric adenocarcinoma and associated with peritoneal invasion
PMID: 25368240
Disease Associationsⓘ21
hair colorOpen Targets
0.45Moderate
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
basal cell carcinomaOpen Targets
0.37Weak
atrial fibrillationOpen Targets
0.35Weak
Alzheimer diseaseOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
keratinocyte carcinomaOpen Targets
0.30Weak
squamous cell carcinomaOpen Targets
0.28Weak
Abnormal brain morphologyOpen Targets
0.27Weak
cutaneous squamous cell carcinomaOpen Targets
0.25Weak
placental retentionOpen Targets
0.24Weak
intellectual disability, autosomal dominant 11Open Targets
0.19Weak
musculoskeletal system diseaseOpen Targets
0.17Weak
vertebral joint diseaseOpen Targets
0.16Weak
phototoxic dermatitisOpen Targets
0.15Weak
complex neurodevelopmental disorderOpen Targets
0.12Weak
cancerOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
self-injurious ideationOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
Intellectual developmental disorder, autosomal dominant 11UniProt
Pathogenic Variants1
NM_012156.2(EPB41L1):c.1912C>T (p.Arg638Cys)Likely pathogenic
Abnormal brain morphology
★☆☆☆→ Residue 638
View on ClinVar ↗
Related Genes
TPRNProtein interaction100%GRIA1Protein interaction100%EZRProtein interaction97%RDXProtein interaction95%GRXCR2Protein interaction93%MYO7AProtein interaction88%
Tissue Expression6 tissues
Brain
100%
Heart
44%
Ovary
33%
Lung
12%
Liver
8%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
EPB41L1TPRNGRIA1EZRRDXGRXCR2MYO7A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H4G0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.28 [0.21–0.39]
RankingsWhere EPB41L1 stands among ~20K protein-coding genes
  • #5,407of 20,598
    Most Researched88
  • #4,926of 5,498
    Most Pathogenic Variants1
  • #1,874of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedEPB41L1
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
A gene-based predictive model for lymph node metastasis in cervical cancer: superior performance over imaging techniques.
PMID: 40181462
J Transl Med · 2025
1.00
2
High-density array comparative genomic hybridization detects novel copy number alterations in gastric adenocarcinoma.
PMID: 25368240
Anticancer Res · 2014
0.90
3
Abnormal expression and prognostic significance of EPB41L1 in kidney renal clear cell carcinoma based on data mining.
PMID: 32760223
Cancer Cell Int · 2020
0.80
4
Mechanism of microRNA-431-5p-
PMID: 31749885
Arch Med Sci · 2019
0.70
5
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
PMID: 38511524
Am J Med Genet A · 2024
0.60