EPHB3 (Ephrin Type-B Receptor 3)
A receptor tyrosine kinase involved in cell migration, axon guidance, and cancer progression.
Gene Information Card
| Symbol | EPHB3 |
|---|---|
| Full Name | Ephrin type-B receptor 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 2049 ncbi.nlm.nih.gov/gene/2049 |
| Ensembl ID | ENSG00000182580 |
| UniProt ID | P54753 |
| OMIM ID | 601839 |
| HGNC ID | 3395 |
| Aliases | ETK2, Hek2, Mdk5, Tyro6 |
Description
EPHB3 (Ephrin type-B receptor 3) is a member of the Eph receptor tyrosine kinase family that binds ephrin-B ligands. It plays critical roles in developmental processes such as axon guidance, cell migration, and tissue boundary formation. In adults, EPHB3 is implicated in cancer progression, angiogenesis, and immune regulation. Dysregulation of EPHB3 expression or function is associated with various malignancies and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of EPHB3 expression correlates with tumor progression and poor prognosis; epigenetic silencing via promoter methylation is common. | PMID: 15833848, COSMIC |
| Gastric cancer | Reduced EPHB3 expression is associated with lymph node metastasis and advanced tumor stage. | PMID: 20077513 |
| Prostate cancer | EPHB3 overexpression promotes cell migration and invasion through activation of Src/FAK signaling. | PMID: 22926525 |
| Breast cancer | EPHB3 is overexpressed in triple-negative breast cancer and linked to poor survival. | PMID: 25695676 |
| Lung cancer | EPHB3 mutations and altered expression contribute to tumor growth and metastasis. | COSMIC, PMID: 28783719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Low |
| Prostate | 6.7 | Low |
| Breast | 5.2 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HCT116 | 9.8 | Moderate expression in colorectal carcinoma cells |
| MCF7 | 6.1 | Low expression in breast cancer cells |
| PC3 | 7.4 | Moderate expression in prostate cancer cells |
| A549 | 5.3 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <1% | Likely affects ligand binding; reported in colorectal cancer |
| c.1567G>A (p.Gly523Arg) | Missense | <1% | Found in lung adenocarcinoma; functional impact unknown |
| c.2101_2102insA (p.Thr701Asnfs*5) | Frameshift | <1% | Predicted loss of kinase domain; observed in gastric cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain or disrupt ligand binding are classified as loss-of-function.
Gain of Function (GOF)
Missense mutations in the kinase domain (e.g., p.Arg412Cys) may enhance kinase activity, but evidence is limited.
Dominant Negative (DN)
No dominant-negative mutations have been conclusively described for EPHB3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004714 - transmembrane receptor protein tyrosine kinase activity | • GO:0005005 - ephrin receptor activity |
| • GO:0007411 - axon guidance | • GO:0007155 - cell adhesion |
| • GO:0016477 - cell migration | • GO:0048011 - neurotrophin TRK receptor signaling pathway |
| • GO:0030154 - cell differentiation |
Pathways
• Ephrin B reverse signaling
• Ephrin receptor signaling
• Axon guidance
• Signaling by receptor tyrosine kinases
Protein Summary
EPHB3 is a single-pass type I membrane protein with an N-terminal ephrin-binding domain, a cysteine-rich region, two fibronectin type III repeats, a transmembrane segment, and a cytoplasmic tyrosine kinase domain. Upon binding ephrin-B ligands, EPHB3 undergoes dimerization and autophosphorylation, initiating downstream signaling cascades that regulate cytoskeletal dynamics, cell adhesion, and migration. The protein is widely expressed in embryonic tissues and plays a key role in neural development. In cancer, EPHB3 can act as either a tumor suppressor or oncogene depending on cellular context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHB3 Knockout HEK293 Cell Line | EDJ-KQ1919 | Human | 2049 | Details Get a Quote |
| EPHB3 Knockout HCT 116 Cell Line | EDJ-KQ21837 | Human | 2049 | Details Get a Quote |
| EPHB3 Knockout HeLa Cell Line | EDJ-KQ53167 | Human | 2049 | Details Get a Quote |
| EPHB3 Knockout A-549 Cell Line | EDJ-KQ61646 | Human | 2049 | Details Get a Quote |
| EPHB3 Knockout HAP1 Cell Line | EDC08038 | Human | 2049 | Details Get a Quote |
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