EPB41L2 Gene - Erythrocyte Membrane Protein Band 4.1 Like 2
A member of the 4.1 family of cytoskeletal proteins involved in membrane stability and cell signaling.
Gene Information Card
| Symbol | EPB41L2 |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 2037 ncbi.nlm.nih.gov/gene/2037 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | O43491 |
| OMIM ID | 603237 |
| HGNC ID | 3379 |
| Aliases | 4.1B, DAL-1, EPB41L2 |
Description
EPB41L2 (Erythrocyte Membrane Protein Band 4.1 Like 2) encodes a member of the 4.1 family of cytoskeletal proteins. This protein, also known as 4.1B or DAL-1, is widely expressed and localizes to the plasma membrane where it links the spectrin-actin cytoskeleton to membrane proteins. It plays a role in maintaining cell shape, membrane stability, and signal transduction. EPB41L2 is implicated in tumor suppression and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meningioma | Loss of EPB41L2 expression contributes to tumorigenesis via disrupted cytoskeletal integrity and cell adhesion. | PMID: 10652317 |
| Breast cancer | Reduced EPB41L2 expression is associated with increased cell proliferation and invasion. | PMID: 15604238 |
| Schizophrenia | Genetic variants in EPB41L2 may alter synaptic function and neuronal connectivity. | ClinVar: SCV000123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Liver | 3.2 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.2 | High expression |
| HeLa | 6.5 | Moderate expression |
| MCF7 | 4.1 | Low expression |
| SH-SY5Y | 11.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Val189Met) | Missense | 0.02% | Unknown significance |
| c.890_891insA (p.Leu297fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with reduced tumor suppression.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • protein binding (GO:0005515) |
| • plasma membrane (GO:0005886) | • cytoskeletal protein binding (GO:0008092) |
| • actin cytoskeleton organization (GO:0030036) |
Pathways
• Cytoskeletal regulation by Rho GTPase
• Cell adhesion molecules (CAMs)
• Erythrocyte membrane protein interactions
Protein Summary
EPB41L2 encodes a 4.1B protein that contains a FERM domain, a spectrin-actin binding domain, and a C-terminal domain. It localizes to the plasma membrane and interacts with membrane proteins such as glycophorin C and ion transporters. The protein is critical for maintaining cell shape and membrane stability, and its loss is associated with tumor progression in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L2 Knockout HEK293 Cell Line | EDJ-KQ4532 | Human | 2037 | Details Get a Quote |
| EPB41L2 Knockout HCT 116 Cell Line | EDJ-KQ27151 | Human | 2037 | Details Get a Quote |
| EPB41L2 Knockout HeLa Cell Line | EDJ-KQ27152 | Human | 2037 | Details Get a Quote |
| EPB41L2 Knockout A-549 Cell Line | EDJ-KQ25889 | Human | 2037 | Details Get a Quote |
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