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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EPB41L2
erythrocyte membrane protein band 4.1 like 2
Chromosome 6 · 6q23.1-q23.2
NCBI Gene: 2037Ensembl: ENSG00000079819.20HGNC: HGNC:3379UniProt: A0A994J5B1
159PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of protein localization to cell cortexCOP9 signalosomecell junctionprotein bindingneurodegenerative diseasehair colorurolithiasisandrogenetic alopecia
✦AI Summary

EPB41L2 encodes a 113-kDa cytoskeletal adaptor protein that is widely expressed across human tissues 1. The protein contains conserved domains for membrane binding, spectrin-actin interaction, and a C-terminal domain shared with its paralog EPB41 1. EPB41L2 is essential for recruiting the dynein-dynactin complex and NUMA1 to the mitotic cell cortex during anaphase, supporting proper cell division. Alternative polyadenylation and splicing generate diverse EPB41L2 isoforms with tissue-specific subcellular localizations 2. In cancer contexts, EPB41L2 expression in cancer-associated fibroblasts (CAFs) correlates with poor prognosis in bladder cancer and promotes tumor microenvironment remodeling 3. Conversely, circRNA EPB41L2 functions as a tumor suppressor in lung adenocarcinoma by acting as a competing endogenous RNA that sequesters miR-211-5p, indirectly upregulating the tumor-suppressive gene CDH4 4. EPB41L2 appears in ubiquitin-related prognostic signatures for epithelial ovarian carcinoma, associated with altered immune landscape composition 5. Notably, BRAF::EPB41L2 gene fusions have been identified in pilocytic astrocytomas 6. These findings indicate EPB41L2 has dual roles: structural functions in cytoskeletal organization and context-dependent roles in cancer biology and immunotherapy response.

Sources cited
1
EPB41L2 encodes a 113-kDa protein with conserved membrane binding, spectrin-actin binding, and C-terminal domains; widely expressed with tissue-specific isoforms
PMID: 9598318
2
EPB41L2 required for dynein-dynactin complex and NUMA1 recruitment at mitotic cell cortex during anaphase
PMID: 23870127
3
Alternative polyadenylation and splicing generate diverse EPB41L2 isoforms across tissues
PMID: 27981895
4
EPB41L2 elevated in bladder cancer CAFs, serves as poor prognostic factor, promotes TME remodeling, and associates with reduced immunotherapy response
PMID: 38154234
5
CircRNA EPB41L2 functions as tumor suppressor in lung adenocarcinoma by sequestering miR-211-5p to upregulate CDH4
PMID: 32329852
6
EPB41L2 included in ubiquitin-related prognostic signature for epithelial ovarian carcinoma, associated with altered immune cell composition
PMID: 39448713
7
BRAF::EPB41L2 gene fusion identified in pilocytic astrocytoma
PMID: 36178221
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
hair colorOpen Targets
0.42Moderate
urolithiasisOpen Targets
0.41Moderate
androgenetic alopeciaOpen Targets
0.36Weak
cholelithiasisOpen Targets
0.32Weak
smoking initiationOpen Targets
0.30Weak
benign colon neoplasmOpen Targets
0.27Weak
agingOpen Targets
0.26Weak
sialadenitisOpen Targets
0.19Weak
gastric cancerOpen Targets
0.18Weak
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRIA1Protein interaction100%SPTAN1Protein interaction97%SPTA1Protein interaction96%SPTBN4Protein interaction92%SPTBN2Protein interaction92%NUMA1Protein interaction90%
Tissue Expression6 tissues
Ovary
100%
Heart
70%
Brain
52%
Lung
52%
Bone Marrow
35%
Liver
17%
Gene Interaction Network
Click a node to explore
EPB41L2GRIA1SPTAN1SPTA1SPTBN4SPTBN2NUMA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43491
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.76Intermediate
Observed/Expected LoF0.39 [0.30–0.51]
RankingsWhere EPB41L2 stands among ~20K protein-coding genes
  • #2,828of 20,598
    Most Researched159 · top quartile
  • #3,143of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedEPB41L2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family.
PMID: 9598318
Genomics · 1998
1.00
2
Expression of EPB41L2 in Cancer-Associated Fibroblasts: Prognostic Implications for Bladder Cancer and Response to Immunotherapy.
PMID: 38154234
Arch Med Res · 2024
0.90
3
Ubiquitin-related gene markers predict immunotherapy response and prognosis in patients with epithelial ovarian carcinoma.
PMID: 39448713
Sci Rep · 2024
0.80
4
Expression of Protein 4.1 Family in Breast Cancer: Database Mining for 4.1 Family Members in Malignancies.
PMID: 31063460
Med Sci Monit · 2019
0.80
5
CircRNA EPB41L2 inhibits tumorigenicity of lung adenocarcinoma through regulating CDH4 by miR-211-5p.
PMID: 32329852
Eur Rev Med Pharmacol Sci · 2020
0.70