EPB41L4B Gene - Erythrocyte Membrane Protein Band 4.1 Like 4B
Comprehensive genomic and proteomic analysis of EPB41L4B, a member of the band 4.1 family involved in cytoskeletal organization and cell signaling.
Gene Information Card
| Symbol | EPB41L4B |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 Like 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 54566 ncbi.nlm.nih.gov/gene/54566 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q9HCM9 |
| OMIM ID | 612405 |
| HGNC ID | 1981 |
| Aliases | EHM2, FLJ20184, MGC117188 |
Description
EPB41L4B encodes a member of the band 4.1 family of cytoskeletal proteins. These proteins link the plasma membrane to the actin cytoskeleton and are involved in cell shape regulation, cell adhesion, and signal transduction. EPB41L4B is widely expressed and has been implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell adhesion and migration | COSMIC, literature |
| No specific Mendelian disease reported | N/A | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.3 | Low |
| Kidney | 12.1 | Medium |
| Testis | 20.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.4 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| HEK293 | 14.6 | Embryonic kidney cell line |
| MCF7 | 9.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown |
| c.567_568insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of protein function.
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) | • lamellipodium (GO:0030027) |
| • cell adhesion (GO:0007155) |
Pathways
• Cytoskeletal signaling
• Cell adhesion (integrin pathway)
Protein Summary
EPB41L4B is a 737-amino acid protein containing a FERM domain, which mediates membrane localization and interaction with transmembrane proteins. It plays a role in maintaining cell shape and motility. The protein is localized to the plasma membrane and lamellipodia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L4B Knockout HEK293 Cell Line | EDJ-KQ11466 | Human | 54566 | Details Get a Quote |
| EPB41L4B Knockout A-549 Cell Line | EDJ-KQ39769 | Human | 54566 | Details Get a Quote |
| EPB41L4B Knockout HCT 116 Cell Line | EDJ-KQ39770 | Human | 54566 | Details Get a Quote |
| EPB41L4B Knockout HeLa Cell Line | EDJ-KQ39771 | Human | 54566 | Details Get a Quote |
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