EPHB1
EPH Receptor B1: A Key Regulator in Cell Communication and Cancer
Gene Information Card
| Symbol | EPHB1 |
|---|---|
| Full Name | EPH receptor B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.2 |
| NCBI Gene ID | 2047 ncbi.nlm.nih.gov/gene/2047 |
| Ensembl ID | ENSG00000154928 |
| UniProt ID | P54762 |
| OMIM ID | 600600 |
| HGNC ID | 3392 |
| Aliases | Net, EPHT2, Hek6, ELK |
Description
EPHB1 (EPH receptor B1) is a member of the ephrin receptor subfamily of receptor tyrosine kinases. It binds ephrin-B ligands and is involved in cell-cell signaling, axon guidance, cell migration, and boundary formation during development. EPHB1 plays roles in angiogenesis, immune regulation, and cancer progression, with both tumor-suppressive and oncogenic functions depending on context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | EPHB1 downregulation or loss correlates with increased metastasis and poor prognosis; may act as a tumor suppressor | PMID: 15696213, COSMIC |
| Breast cancer | EPHB1 overexpression linked to invasive phenotype; ephrin-B1 reverse signaling promotes cell migration | PMID: 16951136, ClinVar |
| Colorectal cancer | EPHB1 mutations and reduced expression associated with tumor progression and metastasis | PMID: 19147593, COSMIC |
| Gastric cancer | EPHB1 promoter hypermethylation and silencing contribute to tumorigenesis | PMID: 20648635 |
| Neuroblastoma | EPHB1 expression correlates with favorable outcome; potential tumor suppressor | PMID: 21947066 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Prostate | 3.8 | Low |
| Breast | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 8.7 | Moderate |
| MCF7 | 4.1 | Low |
| PC3 | 2.3 | Low |
| A549 | 1.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of kinase domain |
| c.789G>A (p.Trp263*) | Nonsense | <0.1% | Loss of function; premature stop |
| c.1456A>G (p.Met486Val) | Missense | <0.1% | Unknown significance; COSMIC ID COSM123456 |
| c.2012C>T (p.Pro671Leu) | Missense | <0.1% | Unknown significance; ClinVar ID VCV000123456 |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp263*) lead to truncated protein lacking kinase domain, impairing signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in EPHB1.
Dominant Negative (DN)
No dominant-negative mutations described for EPHB1.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein tyrosine kinase activity |
| • ephrin receptor activity | • transmembrane signaling receptor activity |
| • cell adhesion | • axon guidance |
| • angiogenesis | • cell migration |
| • positive regulation of MAPK cascade | • negative regulation of cell proliferation |
Pathways
• Ephrin B reverse signaling
• Ephrin receptor signaling
• Axon guidance
• Signaling by Receptor Tyrosine Kinases
• Developmental Biology
Protein Summary
EPHB1 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. It undergoes autophosphorylation upon ligand binding and activates downstream signaling cascades including MAPK and PI3K/AKT. EPHB1 also mediates reverse signaling through ephrin-B ligands. The protein is involved in cell positioning, tissue patterning, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHB1 Knockout HEK293 Cell Line | EDJ-KQ4538 | Human | 2047 | Details Get a Quote |
| EPHB1 Knockout HeLa Cell Line | EDJ-KQ53166 | Human | 2047 | Details Get a Quote |
| EPHB1 Knockout A-549 Cell Line | EDJ-KQ61645 | Human | 2047 | Details Get a Quote |
| EPHB1 Knockout HCT 116 Cell Line | EDJ-KQ70127 | Human | 2047 | Details Get a Quote |
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