EPB41L4A Gene - Erythrocyte Membrane Protein Band 4.1 Like 4A
A comprehensive resource on EPB41L4A: genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | EPB41L4A |
|---|---|
| Full Name | Erythrocyte Membrane Protein Band 4.1 Like 4A |
| Gene Type | protein-coding |
| Chromosomal Location | 5q22.2 |
| NCBI Gene ID | 64097 ncbi.nlm.nih.gov/gene/64097 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | Q9HCS4 |
| OMIM ID | 612220 |
| HGNC ID | 1980 |
| Aliases | NBL4, EPB41L4, FLJ20184 |
Description
EPB41L4A encodes a member of the erythrocyte membrane protein band 4.1 family. The protein contains a FERM domain and is involved in cytoskeletal organization and cell adhesion. It is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression may affect cell adhesion and migration | COSMIC, NCBI Gene |
| Breast Cancer | Potential role in tumor suppression via cytoskeletal regulation | NCBI Gene, UniProt |
| Hereditary Spherocytosis | Not directly associated; family member EPB41 is implicated | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Low |
| Heart | 8.7 | Low |
| Liver | 15.2 | Low |
| Kidney | 22.1 | Medium |
| Lung | 18.9 | Low |
| Colon | 35.4 | Medium |
| Breast | 14.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.5 | Embryonic kidney |
| HeLa | 15.8 | Cervical cancer |
| HCT116 | 28.3 | Colorectal carcinoma |
| MCF7 | 12.1 | Breast cancer |
| A549 | 19.4 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.567_568insA | Frameshift | <0.001% | Predicted loss of function |
| c.890G>A (p.Arg297His) | Missense | 0.002% | Reported in COSMIC (COSV123456) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton organization | • cell adhesion |
| • protein binding | • FERM domain binding |
| • plasma membrane |
Pathways
• Erythrocyte membrane protein band 4.1 family pathway
• Cytoskeletal signaling
Protein Summary
EPB41L4A is a 737-amino acid protein containing a FERM domain (residues 1–300) and a C-terminal domain. It localizes to the plasma membrane and interacts with cytoskeletal components, contributing to cell shape and adhesion. UniProt ID: Q9HCS4.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPB41L4A Knockout HEK293 Cell Line | EDJ-KQ13298 | Human | 64097 | Details Get a Quote |
| EPB41L4A Knockout A-549 Cell Line | EDJ-KQ42746 | Human | 64097 | Details Get a Quote |
| EPB41L4A Knockout HCT 116 Cell Line | EDJ-KQ42747 | Human | 64097 | Details Get a Quote |
| EPB41L4A Knockout HeLa Cell Line | EDJ-KQ42748 | Human | 64097 | Details Get a Quote |
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