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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPB41L4B
erythrocyte membrane protein band 4.1 like 4B
Chromosome 9 · 9q31.3
NCBI Gene: 54566Ensembl: ENSG00000095203.16HGNC: HGNC:19818UniProt: Q59GC2
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of keratinocyte proliferationactomyosin structure organizationpositive regulation of gene expressionwound healingneurodegenerative diseaseAbnormality of the skeletal systemdyshidrosisbrain disease
✦AI Summary

EPB41L4B is a FERM-domain cytoskeletal protein that regulates epithelial cell structure and proliferation through multiple mechanisms. It functions as an essential mediator of CRB3-driven proliferation in mammary epithelial cells by modulating endocytic trafficking and amphiregulin secretion 1. EPB41L4B positively regulates cell adhesion and migration in vitro and may contribute to wound healing [UniProt annotation]. The protein is involved in organizing the circumferential actomyosin belt in epithelial cells [UniProt annotation], supporting its role in maintaining epithelial architecture. Clinically, EPB41L4B has emerging relevance in multiple diseases. In ulcerative colitis, elevated EPB41L4B expression characterizes a molecular subgroup with mild disease severity but increased progression risk to colorectal cancer 2. In prostate cancer, EPB41L4B upregulation is associated with ERG overexpression and earlier biochemical recurrence 3. In breast cancer, EPB41L4B functions as a prognostic biomarker; high expression correlates with worse survival outcomes and immunosuppressive microenvironment, while its knockdown inhibits cell viability and migration while promoting apoptosis 4. Additionally, EPB41L4B shows dysregulation at both DNA methylation and transcriptome levels in placentas from pregnancies complicated by maternal anxiety and depression, suggesting potential epigenetic biomarker value 5. EPB41L4B was identified as a respiratory disease biomarker upregulated in RSV-infected bronchial epithelial cells 6.

Sources cited
1
EPB41L4B is an essential mediator of CRB3-driven epithelial cell proliferation through modulation of endocytic trafficking and amphiregulin secretion
PMID: 30440051
2
EPB41L4B is a subgroup-specific gene in ulcerative colitis associated with mild disease but higher progression risk to colorectal cancer
PMID: 37843347
3
EPB41L4B upregulation in prostate cancer is associated with ERG overexpression and earlier biochemical recurrence
PMID: 20860828
4
EPB41L4B is a prognostic biomarker in breast cancer; high expression predicts worse survival and immunosuppressive microenvironment; knockdown inhibits cell viability and migration
PMID: 38864225
5
EPB41L4B is dysregulated at DNA methylation and transcriptome levels in placentas from pregnancies with maternal anxiety and depression
PMID: 37549439
6
EPB41L4B is upregulated in RSV-infected bronchial epithelial cells and identified as a respiratory disease biomarker
PMID: 19459069
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
Abnormality of the skeletal systemOpen Targets
0.36Weak
dyshidrosisOpen Targets
0.30Weak
brain diseaseOpen Targets
0.28Weak
esophageal ulcerOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
injuryOpen Targets
0.19Weak
metabolic syndromeOpen Targets
0.15Weak
breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
chronic kidney diseaseOpen Targets
0.07Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
placenta praeviaOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
AnxietyOpen Targets
0.04Suggestive
Left bundle branch blockOpen Targets
0.04Suggestive
premature birthOpen Targets
0.03Suggestive
papillary thyroid carcinomaOpen Targets
0.03Suggestive
stomach diseaseOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARHGEF18Protein interaction96%PRKCIProtein interaction91%PRKCZProtein interaction91%TAAR1Protein interaction85%FRMD5Shared pathway25%FRMD3Shared pathway17%
Tissue Expression6 tissues
Liver
100%
Brain
29%
Ovary
27%
Heart
25%
Lung
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
EPB41L4BARHGEF18PRKCIPRKCZTAAR1FRMD5FRMD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59GC2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.13–0.29]
RankingsWhere EPB41L4B stands among ~20K protein-coding genes
  • #9,199of 20,598
    Most Researched47
  • #1,030of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedEPB41L4B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Construction of molecular subgroups of ulcerative colitis.
PMID: 37843347
Eur Rev Med Pharmacol Sci · 2023
1.00
2
CRB3 and the FERM protein EPB41L4B regulate proliferation of mammary epithelial cells through the release of amphiregulin.
PMID: 30440051
PLoS One · 2018
0.90
3
Exome sequencing in one family with gastric- and rectal cancer.
PMID: 26872740
BMC Genet · 2016
0.80
4
Prognostic Value and Immune Signatures of Anoikis-related Genes in Breast Cancer.
PMID: 38864225
J Immunother · 2024
0.70
5
Epigenetic modifications appear in the human placenta following anxiety and depression during pregnancy.
PMID: 37549439
Placenta · 2023
0.60